Publications by authors named "Concezio Di Rocco"

213 Publications

Introduction. Controversies in the management of single-suture craniosynostosis.

Neurosurg Focus 2021 Apr;50(4):E1

4Department of Plastic Surgery, Children's Hospital of Philadelphia, Pennsylvania.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3171/2021.1.FOCUS2130DOI Listing
April 2021

Computer tomography-based quantitative analysis of the orbital proptosis severity in infants with syndromic craniosynostosis: case-control study.

Childs Nerv Syst 2021 Feb 8. Epub 2021 Feb 8.

Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma-UOC Radiologia e Neuroradiologia, Polo Diagnostica per immagini, radioterapia, oncologia ed ematologia, Area diagnostica per immagini, Largo Francesco Vito 1, -00168, Rome, Italy.

Purpose: Evaluation of orbital proptosis and sutural synostosis pattern along the coronal ring in craniofaciosynostosis patients with or without fibroblastic growth factor receptor 2 (FGFR2) mutation.

Methods: High-resolution computer tomography was used to assess, in children with or without FGFR2 mutation, the early synostotic involvement of the "major" and "minor" sutures/synchondroses of the coronal arch along with the following orbital parameters: interorbital angle, bone orbital cavity volume, globe volume, ventral globe volume, ventral globe index.

Results: Infants with FGFR2 mutation showed an increased number of closed minor sutures/synchondroses along the posterior coronal branch while both groups showed a comparable synostotic involvement of the minor sutures of the anterior coronal branch. FGFR2 infants with posterior coronal branch synostotic involvement showed a higher degree of proptosis due to both reduced bony cavity volume and increased globe volume (p<0.05).

Conclusions: Our data show that FGFR2 mutation together with posterior coronal branch synostotic involvement has a synergic effect in causing a more severe degree of orbital proptosis.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-021-05062-6DOI Listing
February 2021

Neurocutaneous melanocytosis (melanosis).

Childs Nerv Syst 2020 10 13;36(10):2571-2596. Epub 2020 Oct 13.

Pediatric Neurosurgery, International Neuroscience Institute (INI), Hannover, Germany.

Neurocutaneous melanosis (NCM; MIM # 249400; ORPHA: 2481], first reported by the Bohemian pathologist Rokitansky in 1861, and now more precisely defined as neurocutaneous melanocytosis, is a rare, congenital syndrome characterised by the association of (1) congenital melanocytic nevi (CMN) of the skin with overlying hypertrichosis, presenting as (a) large (LCMN) or giant and/or multiple (MCMN) melanocytic lesions (or both; sometimes associated with smaller "satellite" nevi) or (b) as proliferative melanocytic nodules; and (2) melanocytosis (with infiltration) of the brain parenchyma and/or leptomeninges. CMN of the skin and leptomeningeal/nervous system infiltration are usually benign, more rarely may progress to melanoma or non-malignant melanosis of the brain. Approximately 12% of individuals with LCMN will develop NCM: wide extension and/or dorsal axial distribution of LCMN increases the risk of NCM. The CMN are recognised at birth and are distributed over the skin according to 6 or more patterns (6B patterns) in line with the archetypical patterns of distribution of mosaic skin disorders. Neurological manifestations can appear acutely in infancy, or more frequently later in childhood or adult life, and include signs/symptoms of intracranial hypertension, seizures/epilepsy, cranial nerve palsies, motor/sensory deficits, cognitive/behavioural abnormalities, sleep cycle anomalies, and eventually neurological deterioration. NMC patients may be symptomatic or asymptomatic, with or without evidence of the typical nervous system changes at MRI. Associated brain and spinal cord malformations include the Dandy-Walker malformation (DWM) complex, hemimegalencephaly, cortical dysplasia, arachnoid cysts, Chiari I and II malformations, syringomyelia, meningoceles, occult spinal dysraphism, and CNS lipoma/lipomatosis. There is no systemic involvement, or only rarely. Pathogenically, single postzygotic mutations in the NRAS (neuroblastoma RAS viral oncogene homologue; MIM # 164790; at 1p13.2) proto-oncogene explain the occurrence of single/multiple CMNs and melanocytic and non-melanocytic nervous system lesions in NCM: these disrupt the RAS/ERK/mTOR/PI3K/akt pathways. Diagnostic/surveillance work-ups require physical examination, ophthalmoscopy, brain/spinal cord magnetic resonance imaging (MRI) and angiography (MRA), positron emission tomography (PET), and video-EEG and IQ testing. Treatment strategies include laser therapy, chemical peeling, dermabrasion, and surgical removal/grafting for CMNs and shunt surgery and surgical removal/chemo/radiotherapy for CNS lesions. Biologically targeted therapies tailored (a) BRAF/MEK in NCM mice (MEK162) and GCMN (trametinib); (b) PI3K/mTOR (omipalisib/GSK2126458) in NMC cells; (c) RAS/MEK (vemurafenib and trametinib) in LCMNs cells; or created experimental NMC cells (YP-MEL).
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-020-04770-9DOI Listing
October 2020

Introduction to phacomatoses (neurocutaneous disorders) in childhood.

Childs Nerv Syst 2020 10 17;36(10):2229-2268. Epub 2020 Sep 17.

Pediatric Neurosurgery, International Neuroscience Institute [INI], Hanover, Germany.

The Dutch ophthalmologist, Jan van der Hoeve, first introduced the terms phakoma/phakomata (from the old Greek word "ϕαχοσ" = lentil, spot, lens-shaped) to define similar retinal lesions recorded in tuberous sclerosis (1920) and in neurofibromatosis (1923). He later applied this concept: (a) to similar lesions in other organs (e.g. brain, heart and kidneys) (1932) and (b) to other disorders (i.e. von Hippel-Lindau disease and Sturge-Weber syndrome) (1933), and coined the term phakomatoses. At the same time, the American neurologist Paul Ivan Yakovlev and psychiatrist Riley H. Guthrie (1931) established the key role of nervous systems and skin manifestations in these conditions and proposed to name them neurocutaneous syndromes (or ectodermoses, to explain the pathogenesis). The Belgian pathologist, Ludo van Bogaert, came to similar conclusions (1935), but used the term neuro-ectodermal dysplasias. In the 1980s, the American paediatric neurologist Manuel R. Gomez introduced the concept of "hamartia/hamartoma" instead of phakoma/phakomata. "Genodermatoses" and "neurocristopathies" were alternative terms still used to define these conditions. Nowadays, however, the most acclaimed terms are "phacomatoses" and "neurocutaneous disorders", which are used interchangeably. Phacomatoses are a heterogeneous group of conditions (mainly) affecting the skin (with congenital pigmentary/vascular abnormalities and/or tumours), the central and peripheral nervous system (with congenital abnormalities and/or tumours) and the eye (with variable abnormalities). Manifestations may involve many other organs or systems including the heart, vessels, lungs, kidneys and bones. Pathogenically, they are explained by interplays between intra- and extra-neuronal signalling pathways encompassing receptor-to-protein and protein-to-protein cascades involving RAS, MAPK/MEK, ERK, mTOR, RHOA, PI3K/AKT, PTEN, GNAQ and GNA11 pathways, which shed light also to phenotypic variability and overlapping. We hereby review the history, classification, genomics, clinical manifestations, diagnostic criteria, surveillance protocols and therapies, in phacomatoses: (1) predisposing to development of tumours (i.e. the neurofibromatoses and allelic/similar disorders and schwannomatosis; tuberous sclerosis complex; Gorlin-Goltz and Lhermitte-Duclos-Cowden syndromes); (2) with vascular malformations (i.e. Sturge-Weber and Klippel-Trenaunay syndromes; megalencephaly/microcephaly-capillary malformation syndromes; CLOVES, Wyburn-Mason and mixed vascular nevus syndromes; blue rubber bleb nevus syndrome; hereditary haemorrhagic telangiectasia); (3) with vascular tumours (von Hippel-Lindau disease; PHACE(S)); (4) with pigmentary/connective tissue mosaicism (incontinentia pigmenti; pigmentary/Ito mosaicism; mTOR-related megalencephaly/focal cortical dysplasia/pigmentary mosaicism; RHOA-related ectodermal dysplasia; neurocutaneous melanocytosis; epidermal/papular spilus/Becker nevi syndromes; PENS and LEOPARD syndromes; encephalocraniocutaneous lipomatosis; lipoid proteinosis); (5) with dermal dysplasia (cerebellotrigeminal dermal dysplasia); and (6) with twin spotting or similar phenomena (phacomatosis pigmentovascularis and pigmentokeratotica; and cutis tricolor).
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-020-04758-5DOI Listing
October 2020

Jim Tait Goodrich.

Childs Nerv Syst 2020 10;36(10):2187-2188

Pediatric Neurosurgery, International Neuroscience Institute, Hannover, Germany.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-020-04804-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393026PMC
October 2020

Posterior Cranial Fossa Maldevelopment in Infants with Repaired Open Myelomeningoceles: Double Trouble or a Dynamic Process of Posterior Cranial Fossa Abnormalities?

World Neurosurg 2020 09 22;141:e989-e997. Epub 2020 Jun 22.

Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Radiology and Neuroradiology, Diagnostics For Images, Radiotherapy, Oncology and Hematology, Diagnostic Area for Images, Rome, Italy; Institute of Radiology, Catholic University of the Sacred Heart, Rome, Italy.

Objective: Two degrees of posterior cranial fossa (PCF) maldevelopment can be hypothesized in children with myelomeningocele (MMC). This paper investigates the PCF deformation by quantitative magnetic resonance imaging analysis in MMC subjects with and without Chiari 2 malformation (CM2).

Methods: PCF bone volume (PCFV), PCF brain volume (PCFBV), lengths of PCF, ventriculomegaly, level, and extension of the dysraphism were analyzed by magnetic resonance image scanning of 51 newborns with MMC surgically repaired at birth (and 41 controls). The possible correlation among PCF hypoplasia, level/extension of the spinal dysraphism, and ventriculomegaly was assessed.

Results: In MMC and CM2, the dysraphism level was above L4 in 30 and below L4 in 10 subjects. PCFV/PCFBV ratio and supraocciput and exocciput lengths were significantly reduced; foramen magnum diameters, mammillo-pontine distance, and pons length were significantly increased (P < 0.05). In isolated MMC, the dysraphism level was below L4 in all cases. PCFV/PCFBV ratio and supraocciput length were significantly reduced; pons length was significantly increased (P < 0.05). The lower the MMC level, the lower the incidence of CM2. A positive correlation was found between PCF hypoplasia and MMC level above L4 (P < 0.001), while a negative correlation was found among PCF hypoplasia and MMC extension (P = 0.006), PCF hypoplasia, and ventriculomegaly (P = 0.02).

Conclusions: PCF hypoplasia has to be considered a dynamic maldevelopment process in the 2 cohorts rather than 2 separated entities. The level of MMC is the main but not the unique cause influencing the severity of PCF maldevelopment.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.wneu.2020.06.106DOI Listing
September 2020

Multimodal assessment of motor pathways and intracortical connections in functional hemispherectomy.

Childs Nerv Syst 2020 Dec 9;36(12):3085-3093. Epub 2020 May 9.

Neurology, Neurophysiology and Neurobiology Unit, Department of Medicine, Università Campus Bio-Medico di Roma, Rome, Italy.

Purpose: For selected children with medically intractable epilepsy, hemispherectomy can be an excellent treatment option and its efficacy in achieving seizure freedom or reduction in seizure frequency has been shown in several studies, but patients' selection could not be straightforward and often it is taken on subjective basis. We described a multimodal approach to assess patient eligible for hemispherectomy and possibly predicting post-surgical outcomes.

Methods: We describe pre- and post-surgical clinical features along with neuroradiological results by magnetic resonance imaging (MRI), functional magnetic resonance imaging (fMRI), MR-tractography (MRT), and neurophysiological study by single and paired pulses transcranial magnetic stimulation (TMS) in a child with cerebral palsy with epileptic encephalopathy, eligible for epilepsy surgery.

Results: Presurgical TMS evaluation showed a lateralization of motor function on the left motor cortex for both arms, and results were confirmed by MRI studies. Interestingly, after surgery, both epilepsy and motor performances improved and TMS showed enhancement of intracortical inhibition and facilitation activity.

Conclusion: Functional hemispherectomy is an effective treatment for drug-resistant epilepsy, and multimodal presurgical assessment may be a useful approach to guide surgeons in selecting patients. Moreover, pre- and post-surgical evaluation of these patients may enhance our understanding of brain plasticity phenomena.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-020-04617-3DOI Listing
December 2020

Craniofacial Sutural Pattern and Surgical Management in Patients With Different Degrees of Trigonocephaly Severity.

J Comput Assist Tomogr 2020 May/Jun;44(3):374-379

International Neuroscience Institute, Hannover, Germany.

The aim of this study was to identify quantitative tools to classify the severity of trigonocephaly to guide surgical management and predict outcome.

Methods: We reviewed high-resolution computed tomography images of 59 patients with metopic synostosis. We assessed the craniofacial sutural pattern as well as interfrontal and metopic angles, and we related the frontal angulation degree with the sutural pattern, the surgical management, and clinical outcome.

Results: We identified 3 groups according to the severity of trigonocephaly. No difference was found between the sutural pattern of nasion complex and severity, whereas the closure of zygomatic maxillary sutures increased with the severity degree (P < 0.05). The operative management was related to the severity degree (P < 0.001) and to the reduced age (P = 0.009).

Conclusions: Interfrontal and metopic angles are complementary measurements to evaluate with high accuracy the degree of frontal angulation. In preoperative assessment, they may guide surgery decision in particular when the choice is not straightforward.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/RCT.0000000000001002DOI Listing
May 2020

Cranial and ventricular size following shunting or endoscopic third ventriculostomy (ETV) in infants with aqueductal stenosis: further insights from the International Infant Hydrocephalus Study (IIHS).

Childs Nerv Syst 2020 07 21;36(7):1407-1414. Epub 2020 Jan 21.

Department of Pediatric Neurosurgery, Dana Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel.

Purpose: The craniometrics of head circumference (HC) and ventricular size are part of the clinical assessment of infants with hydrocephalus and are often utilized in conjunction with other clinical and radiological parameters to determine the success of treatment. We aimed to assess the effect of endoscopic third ventriculostomy (ETV) and shunting on craniometric measurements during the follow-up of a cohort of infants with symptomatic triventricular hydrocephalus secondary to aqueductal stenosis.

Methods: We performed a post hoc analysis of data from the International Infant Hydrocephalus Study (IIHS)-a prospective, multicenter study of infants (< 24 months old) with hydrocephalus from aqueductal stenosis who were treated with either an ETV or shunt. During various stages of a 5-year follow-up period, the following craniometrics were measured: HC, HC centile, HC z-score, and frontal-occipital horn ratio (FOR). Data were compared in an analysis of covariance, adjusting for baseline variables including age at surgery and sex.

Results: Of 158 enrolled patients, 115 underwent an ETV, while 43 received a shunt. Both procedures led to improvements in the mean HC centile position and z-score, a trend which continued until the 5-year assessment point. A similar trend was noted for FOR which was measured at 12 months and 3 years following initial treatment. Although the values were consistently higher for ETV compared with shunt, the differences in HC value, centile, and z-score were not significant. ETV was associated with a significantly higher FOR compared with shunting at 12 months (0.52 vs 0.44; p = 0.002) and 3 years (0.46 vs 0.38; p = 0.03) of follow-up.

Conclusion: ETV and shunting led to improvements in HC centile, z-score, and FOR measurements during long-term follow-up of infants with hydrocephalus secondary to aqueductal stenosis. Head size did not significantly differ between the treatment groups during follow-up, however ventricle size was greater in those undergoing ETV when measured at 1 and 3 years following treatment.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-020-04503-yDOI Listing
July 2020

Orbito-facial dysmorphology in patients with different degrees of trigonocephaly severity: quantitative morpho-volumetric analysis in infants with non-syndromic metopic craniosynostosis.

Childs Nerv Syst 2020 06 16;36(6):1263-1273. Epub 2019 Dec 16.

UOC Radiologia e Neuroradiologia - Polo Diagnostica per immagini, radioterapia, oncologia ed ematologia, Area diagnostica per immagini, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Francesco Vito, 1, 00168, Rome, Italy.

Purpose: Craniofacial dysmorphology varies significantly along a wide spectrum of severity in metopic cranial synostosis (MCS). This study aimed to quantify craniofacial changes, in MCS, to investigate their relationships with the severity of trigonocephaly.

Methods: By combining the metopic ridge and interfrontal angles, we identified three groups of trigonocephaly severity (mild group n.14, moderate group n.19, severe group n.18). We perform a quantitative analysis using high-resolution CT images evaluating (1) cranial fossae dimensions; (2) vault indices and ratios: interparietal/ intercoronal (IPD/ICD), interparietal/intertemporal (IPD/ITD), cephalic index, vertico-longitudinal index; (3) orbito-facial distances (midfacial depth, maxillary height, upper facial index, orbital distances, globe protrusions), maxilla and orbital volumes; (4) supratentorial (ICV) and infratentorial (PCFV) cranial volumes and supratentorial (WBV) and infratentorial (PCFBV) brain volumes.

Results: In all groups, middle skull base lengths and upper midface index were increased. In moderate and severe groups: anterior hemifossa lengths were reduced, IPD/ICD and vertico-longitudinal index were changed; midfacial depth, anterior, mild, and lateral interorbital distances were reduced; globe protrusions were increased. The comparison between moderate and severe groups showed an increase of both globe protrusions and IPD/ICD. Among all groups, ICV and WBV were reduced in the severe group.

Conclusion: This morpho-volumetric study provides new insights in understanding the craniofacial changes occurring in infants at different severity of trigonocephaly. The increase of globe protrusions and the reduction of supratentorial volumes found in the severe group reflect the severity of trigonocephaly; these findings might have a clinical and surgical relevance.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-019-04456-xDOI Listing
June 2020

Should we stop using the term "malformation" for Chiari type I?

Childs Nerv Syst 2019 10;35(10):1649-1650

Pediatric Neurosurgery, International Neuroscience Institute, Hannover, Germany.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-019-04311-zDOI Listing
October 2019

Chiari type I and hydrocephalus.

Childs Nerv Syst 2019 10 21;35(10):1701-1709. Epub 2019 Jun 21.

Fondazione Policlinico Gemelli IRCCS, Neurochirurgia Infantile, Roma, Italy.

Purpose: The association between Chiari type I malformation (CIM) and hydrocephalus raises a great interest because of the still unclear pathogenesis and the management implications. The goal of this paper is to review the theories on the cause-effect mechanisms of such a relationship and to analyze the results of the management of this condition.

Methods: A review of the literature has been performed, focusing on the articles specifically addressing the problem of CIM and hydrocephalus and on the series reporting about its treatment. Also, the personal authors' experience is briefly discussed.

Results: As far as the pathogenesis is concerned, it seems clear that raised intracranial pressure due to hydrocephalus can cause a transient and reversible tonsillar caudal ectopia ("pressure from above" hypothesis), which is something different from CIM. A "complex" hypothesis, on the other hand, can explain the occurrence of hydrocephalus and CIM because of the venous engorgement resulting from the hypoplasia of the posterior cranial fossa (PCF) and the occlusion of the jugular foramina, leading to cerebellar edema (CIM) and CSF hypo-resorption (hydrocephalus). Nevertheless, such a mechanism can be advocated only in a minority of cases (syndromic craniosynostosis). In non-syndromic CIM subjects, the presence of hydrocephalus could be explained by an occlusion of the basal CSF pathways, which would occur completely in a minority of cases (only 7-10% of CIM patients show hydrocephalus) while it would be partial in the remaining cases (no hydrocephalus). This hypothesis still needs to be demonstrated. As far as the management is concerned, the strategy to treat the hydrocephalus first is commonly accepted. Because of the "obstructive" origin of CIM-related hydrocephalus, the use of endoscopic third ventriculostomy (ETV) is straightforward. Actually, the analysis of the literature, concerning 63 cases reported so far, reveals very high success rates of ETV in treating hydrocephalus (90.5%), CIM (78.5%), and syringomyelia symptoms (76%) as well as in giving a radiological improvement of both CIM (74%) and syringomyelia (89%). The failures of ETV were not attributable to CIM or syringomyelia. Only 11% of cases required PCF decompression after ETV.

Conclusions: The association between CIM and hydrocephalus probably results from different, multifactorial, and not yet completely understood mechanisms, which place the affected patients in a peculiar subgroup among those constituting the heterogeneous CIM population. ETV is confirmed as the best first approach for this subset of patients.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-019-04245-6DOI Listing
October 2019

Cerebellar mutism: the predictive role of preoperative language evaluation.

Childs Nerv Syst 2020 06 14;36(6):1153-1157. Epub 2019 Jun 14.

Pediatric Neurosurgery, Institute of Neurosurgery and Institute of Infantile Neuropsychiatry, Fondazione Policlinico Gemelli IRCSS, Rome, Italy.

Background: The association between preoperative language impairment and development of cerebellar mutism after surgical treatment of posterior fossa tumors has gained increasing interest in recent years based on the concept that both local compression/infiltration of the infratentorial periventricular anatomical structures involved in speech and language, as well as an increased distraction of supratentorial periventricular anatomical structures, due to an associated hydrocephalus, involved in the coordination of speech circuits, might lead to the subclinical presence of language disturbances already at diagnosis, predicting the development of a cerebellar mutism syndrome after tumor removal.

Methods: A thorough review of the literature on the subject has been performed, together with a review of our institutional experience reporting the related long-term (10 years) results.

Results And Conclusions: According to our institutional experience, 20/70 (28.5%) children presented preoperative language impairment and developed cerebellar mutism after surgery. A residual impairment persists in 75% of the cases at a follow-up of 2 years, and in 50% of the cases at 10 years, a finding which actually depicts cerebellar mutism no more as a transient deficit but among long-term sequelae. The appearance of complex dysarthria in the postoperative period is a negative prognostic factor for the long-term persistence of speech disturbances.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-019-04252-7DOI Listing
June 2020

The unseen third dimension: a novel approach for assessing head shape severity in infants with isolated sagittal synostosis.

Childs Nerv Syst 2019 08 12;35(8):1351-1356. Epub 2019 Jun 12.

Area diagnostica per immagini, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Università Cattolica del Sacro Cuore, Largo Francesco Vito 1, 00168, Rome, Italy.

Purpose: This study aimed to develop a novel approach to assess the severity of skull dysmorphology in infants with isolated sagittal synostosis (ISS) and its relationship with the surgical results.

Methods: We divided 66 infants with ISS into three groups by combining the scaphocephalic (SSI-A) and platycephalic (VLI) indices as descriptors of the relation between length, width, and height. We evaluated each skull for morphology as hyperdolichocephalic (< 66%) versus dolichocephalic (66-77%) and as hyperplatycephalic (< 78%) versus platycephalic skull (78-85%). A score system was developed as follows: 2 points for values < 66% and < 78% and 1 point for values between 66 and 77% and 78 and 85% in SSI-A and VLI, respectively. The overall score was calculated and it was used to classify our patients on a 4-point ordinal scale, according to the severity of head shape (2 = mild, 3 = moderate, 4 = severe).

Results: Thirty-two infants resulted in mild group, 17 in moderate group, and 17 in severe group. SSI-A and VLI were reduced according to the severity of ISS. We demonstrated a positive correlation between SSA-A and VLI in mild subgroup of patients while we found a negative correlation between SSA-A and VLI in moderate and in severe subgroups. Moreover, a positive correlation was found between severe subgroup and Sloan III class of surgical results.

Conclusion: This study describes a simple tool to better classify infants with ISS, considering the three-dimensional morphology of the skull, because it evaluates both the dolichocephalic and platycephalic component.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-019-04246-5DOI Listing
August 2019

Quantitative analysis of cranial-orbital changes in infants with anterior synostotic plagiocephaly.

Childs Nerv Syst 2018 09 14;34(9):1725-1733. Epub 2018 May 14.

Polo scienze delle immagini, di laboratorio ed infettivologiche Area diagnostica per immagini Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.

Purpose: The effects of premature fusion of one coronal suture cause skull and orbital alterations in term of side-to-side asymmetry. This study aimed to quantify the cranio-orbital complex changes related to the severity of skull base dysmorphology in patients with unicoronal synostosis.

Methods: Twenty-four infants affected by unicoronal synostosis were subdivided in three subgroups according to the severity of skull base deformity and their high-resolution CT images were quantitatively analyzed (groups IIa, IIb, III). Dimensions of cranial fossae, intracranial volume (ICV), ICV synostotic and ICV non synostotic side, whole brain volume (WBV), orbital volumes (OV), ICV/WBV, ICV/ICV, and OV/OV were evaluated.

Results: Asymmetry and reduction in the growth of the anterior and middle fossae were found in all groups while asymmetry of the posterior cranial fossa was found only in IIb and III groups. In all groups, ICV, WBV, and ICV/WBV were not significantly different while ICVICV and OVOV resulted significant difference (p < 0.05). ICV resulted reduction only in group III. OV on the synostotic side was not significantly reduced although a trend in progressively reducing volumes was noted according to the severity of the group.

Conclusion: Skull and orbital changes revealed a side-to-side asymmetry but the effects of the premature synostosis were more severe in group III suggesting an earlier timing of premature unicoronal synostosis in group III with respect to the other groups. The assessment of the skull base deformity might be an indirect parameter of severity of skull orbital changes and it might be useful for surgical planning.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-018-3824-8DOI Listing
September 2018

BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche.

Bone 2018 07 17;112:58-70. Epub 2018 Apr 17.

Istituto di Anatomia Umana e Biologia Cellulare, Università Cattolica del Sacro Cuore, 00168 Rome, Italy; Fondazione Policlinico Universitario "Agostino Gemelli", 00168 Rome, Italy. Electronic address:

Nonsyndromic craniosynostosis (NCS) is the premature ossification of skull sutures, without associated clinical features. Mutations in several genes account for a small number of NCS patients; thus, the molecular etiopathogenesis of NCS remains largely unclear. Our study aimed at characterizing the molecular signaling implicated in the aberrant ossification of sutures in NCS patients. Comparative gene expression profiling of NCS patient sutures identified a fused suture-specific signature, including 17 genes involved in primary cilium signaling and assembly. Cells from fused sutures displayed a reduced potential to form primary cilia compared to cells from control patent sutures of the same patient. We identified specific upregulated splice variants of the Bardet Biedl syndrome-associated gene 9 (BBS9), which encodes a structural component of the ciliary BBSome complex. BBS9 expression increased during in vitro osteogenic differentiation of suture-derived mesenchymal cells of NCS patients. Also, Bbs9 expression increased during in vivo ossification of rat sutures. BBS9 functional knockdown affected the expression of primary cilia on patient suture cells and their osteogenic potential. Computational modeling of the upregulated protein isoforms (observed in patients) predicted that their binding affinity within the BBSome may be affected, providing a possible explanation for the aberrant suture ossification in NCS.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2018.04.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5970090PMC
July 2018

Surgical management of cerebellopontine angle arachnoid cysts associated with hearing deficit in pediatric patients.

J Neurosurg Pediatr 2018 02 24;21(2):119-123. Epub 2017 Nov 24.

1Department of Neurosurgery, International Neuroscience Institute, Hannover; and.

OBJECTIVE Few cases of cerebellopontine angle (CPA) arachnoid cysts in pediatric patients have been described in the literature, and in only 2 of these cases were the patients described as suffering from hearing deficit. In this article, the authors report on 3 pediatric patients with CPA arachnoid cysts (2 with hearing loss and 1 with recurrent headaches) who underwent neurosurgical treatment at the authors' institution. METHODS Four pediatric patients were diagnosed with CPA arachnoid cysts at the International Neuroscience Institute during the period from October 2004 through August 2012, and 3 of these patients underwent surgical treatment. The authors describe the patients' clinical symptoms, the surgical approach, and the results on long-term follow-up. RESULTS One patient (age 14 years) who presented with headache (without hearing deficit) became asymptomatic after surgical treatment. The other 2 patients who underwent surgical treatment both had hearing loss. One of these children (age 9 years) had recent-onset hypacusia and experienced complete recovery immediately after the surgery. The other (age 6 years) had a longer history (2 years) of progressive hearing loss and showed an interruption of the deficit progression and only mild improvement at the follow-up visit. CONCLUSIONS CPA arachnoid cysts are uncommon in pediatric patients. The indication and timing of the surgical treatment are fundamental, especially when a hearing deficit is present.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3171/2017.8.PEDS17341DOI Listing
February 2018

Problems of reconstructive cranioplasty after traumatic brain injury in children.

Childs Nerv Syst 2017 Oct 6;33(10):1759-1768. Epub 2017 Sep 6.

Department of Neurosurgery, International Neuroscience Institute, Hannover, Germany.

Cranial repair after traumatic brain injury in children is still burdened by unsolved problems and controversial issues, mainly due to the high rate of resorption of autologous bone as well as the absence of valid alternative material to replace the autologous bone. Indeed, inert biomaterials are associated to satisfactory results in the short period but bear the continuous risk of complications related to the lack of osteointegration capacity. Biomimetic materials claiming osteoconductive properties that could balance their mechanical limits seem to allow good cranial bone reconstruction. However, these results should be confirmed in the long term and in larger series. Further complicating factors that may affect cranial reconstruction after head injury should be identified in the possible associated alterations of CSF dynamics and in difficulties to manage the traumatic skin lesion and the surgical wound, which also might impact on the cranioplasty outcome. All the abovementioned considerations should be taken into account when dealing with the cranial reconstruction after decompressive craniectomy in children.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-017-3541-8DOI Listing
October 2017

Correction to: Sphenoid dysplasia in neurofibromatosis type 1: a new technique for repair.

Childs Nerv Syst 2017 12;33(12):2211

Department of Neurosurgery, International Neuroscience Institute, Rudolf Pichlmayr Str. 4, 30625, Hannover, Germany.

The published version of this article unfortunately contained an error. All names of the authors have been published incorrectly. Given in this article are the corrected author names.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-017-3605-9DOI Listing
December 2017

Postoperative Epileptic Seizures in Children: Is the Brain Incision a Risk Factor?

Neurosurgery 2018 04;82(4):465-472

Pediatric Neuro-surgery, International Neuroscience Insti-tute, Hannover, Germany.

Background: Postoperative seizures (PSs) after neurosurgical operations are common but little is known about the role of surgical brain incision on their genesis. This topic has not been addressed so far.

Objective: To verify if the corticotomy affects the risk of PSs and postoperative epilepsy (PE) in children.

Methods: One hundred forty-three consecutive pediatric cases operated on for supratentorial lesions at the same institution in the last 15 yr have been retrospectively reviewed by dividing them into group A, 68 children who required brain corticotomy mainly for hemispheric tumors, and group B, 75 children treated through extracortical approaches mainly for suprasellar and optic tumors. Patients with possible "epileptic" biases, like preoperative seizures, were excluded.

Results: No significant differences have been found between group A and B as far as incidence of PSs (11.7% vs 14.5%) and PE (4.5% vs 6.5%), timing, and type of seizures are concerned after a mean 6.8 yr follow-up. The size of corticotomy in group A (<3 cm2 vs >3 cm2) had no impact on epileptogenesis as well as the other variables considered in both groups (age, sex, extent of lesion resection).

Conclusion: This study shows that the surgical cortical "trauma" would not represent a risk factor for PSs and PE. According to the present analysis and the literature, other causes seem to be involved (namely, electrolytic imbalance and brain gliosis). This information is important for preoperative surgical planning and postoperative management. A validation by both adult series and prospective studies is needed.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1093/neuros/nyx221DOI Listing
April 2018

Prenatal Diagnosis and Multimodal Neonatal Treatment of a Rare Pial Arteriovenous Fistula: Case Report and Review of the Literature.

World Neurosurg 2017 Aug 27;104:1050.e13-1050.e18. Epub 2017 May 27.

Department of Radiology, Catholic University of Sacred Heart, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy.

Background: Intracranial pial arteriovenous fistulas (PAVFs) are direct communications between the arterial and venous system of the brain, with the characteristic absence of a plexiform nidus, as seen in the classic cerebral arteriovenous malformations. These vascular malformations, usually occurring in the pediatric population, very rarely are diagnosed in utero, because of a lack of understanding of the condition and because they may be hard to visualize.

Case Description: We report a rare case of a mass-effect PAVF diagnosed with fetal magnetic resonance imaging, involving the right cerebral hemisphere, fed by a pericallosal artery and associated with a giant venous dilatation. The PAVF initially was managed by the endovascular embolization. The recruitment of a middle cerebral artery feeder and the rapidly enlarging size of the venous pouch with mass effect required subsequent surgery.

Conclusions: The 2-stage multimodal treatment resulted in complete disappearance of the PAVF without complications.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.wneu.2017.05.121DOI Listing
August 2017

Myelomeningocele Repair: Surgical Management Based on a 30-Year Experience.

Acta Neurochir Suppl 2017 ;124:143-148

Pediatric Neurosurgery - A. Gemelli Hospital, Catholic University Medical School, Largo A. Gemelli, Rome, Italy.

Background: Myelomeningocele (MMC) is a rare but severe spinal defect resulting from a failed neurulation process. Surgical repair is a delicate procedure that needs accurate neuroanatomical knowledge and adequate surgical planning.

Materials And Methods: The authors report on the main problems of the surgical management of this type of dysraphism. The technique used for reconstruction, and the management strategies, are analyzed according to the authors' experience with more than 600 cases, in comparison with the relevant literature.

Results: Tip and tricks of more than 30 years of MMC surgical management are reported, with special mention of the timing of surgery, the management of early hydrocephalus, and the principles of the repair, from the dissection to the closure of five separate layers (arachnoid, dura, muscular fascia, subcutaneous layer, skin).

Conclusions: Accuracy and attention to the reconstruction are crucial for achieving good results and avoiding perioperative complications.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-3-319-39546-3_22DOI Listing
November 2017

Pediatric intracranial primary anaplastic ganglioglioma.

Childs Nerv Syst 2017 Feb 5;33(2):227-231. Epub 2016 Dec 5.

International Neuroscience Institute, Rudolf Pichlmayrstr. 4, 30625, Hannover, Germany.

Background: Primary intracranial anaplastic gangliogliomas are rare tumors in the pediatric patient group. Most of them present with symptoms of elevated pressure or symptomatic epilepsy. Extraaxial location is far more common than axial location. On MRI examination, they mimic pilocytic astrocytomas. The outcome after surgery depends mainly on the possible amount of surgical resection, and oncological therapy is necessary to prevent recurrence of the disease.

Case Report: An 11-year-old boy presented with headache and double vision due to obstructive hydrocephalus. MRI of the brain revealed an axial partially contrast enhancing lesion in the quadrigeminal plate extending from the cerebellum to the pineal gland and causing hydrocephalus. Subtotal removal of the lesion was performed, and the diagnosis of an anaplastic ganglioglioma was established and confirmed by the reference center. At the latest follow up (3 months), the boy is without any neurological symptoms and scheduled for radiation therapy as well as chemotherapy.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-016-3302-0DOI Listing
February 2017

Intraoperative magnetic resonance imaging in pediatric neurosurgery: safety and utility.

J Neurosurg Pediatr 2017 Jan 28;19(1):77-84. Epub 2016 Oct 28.

Department of Neurosurgery, International Neuroscience Institute, Hannover; and.

OBJECTIVE The use of high-field intraoperative MRI has been largely studied for the treatment of intracranial tumors in adult patients. In this study, the authors investigated the safety, advantages, and limitations of high-field iMRI for cranial neurosurgical procedures in pediatric patients, with particular attention to craniopharyngiomas and gliomas. METHODS The authors performed 82 surgical procedures in patients under 16 years of age (range 0.8-15 years) over an 8-year period (2007-2014) using iMRI. The population was divided into 3 groups based on the condition treated: sellar region tumors (Group 1), gliomas (Group 2), and other pathological entities (Group 3). The patients' pre- and postoperative neurological status, the presence of residual tumor, the number of intraoperative scans, and complications were evaluated. RESULTS In Group 1, gross-total resection (GTR) was performed in 22 (88%) of the procedures and subtotal resection (STR) in 3 (12%). In Group 2, GTR, STR, and partial resection (PR) were performed, respectively, in 15 (56%), 7 (26%), and 5 (18%) of the procedures. In Group 3, GTR was performed in 28 (93%) and STR in 2 (7%) of the procedures. In cases of craniopharyngioma (Group 1) and glioma (Group 2) in which a complete removal was planned, iMRI allowed localization of residual lesions and attainment of the surgical goal through further resection, respectively, in 18% and 27% of the procedures. Moreover, in gliomas the resection could be extended from partial to subtotal in 50% of the cases. In 17% of the patients in Group 3, iMRI enabled the identification and further removal of tumor remnants. There was no intra- or postoperative complication related to the use of iMRI despite special technical difficulties in smaller children. CONCLUSIONS In this study, the use of iMRI in children proved to be safe. It was most effective in increasing the extent of tumor resection, especially in patients with low-grade gliomas and craniopharyngiomas. The most prominent disadvantage of high-field iMRI was the limitation with respect to operative positioning due to the configuration of the surgical table.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.3171/2016.8.PEDS15708DOI Listing
January 2017

Neurosurgical tools to extend tumor resection in pediatric hemispheric low-grade gliomas: iMRI.

Childs Nerv Syst 2016 Oct 20;32(10):1915-22. Epub 2016 Sep 20.

Department of Neurosurgery, International Neuroscience Institute, Rudolf Pichlmayr Str. 4, 30625, Hannover, Germany.

Introduction: The treatment of low-grade gliomas (LGGs) in pediatric age is still controversial. However, most authors report longer life expectancy in case of completely removed cerebral gliomas. Intraoperative magnetic resonance imaging (iMRI) is increasingly utilized in the surgical management of intra-axial tumor in adults following the demonstration of its effectiveness. In this article, we analyze the management of LGG using iMRI focusing on its impact on resection rate and its limits in the pediatric population.

Methods: We performed review of the literature regarding the treatment of LGG using iMRI focusing on its impact on resection rate and its limits in the pediatric population. Some exemplary cases are also described.

Results: Intraoperative MRI allowed extension of tumor resection after the depiction of residual tumor at the intraoperative imaging control from 21 to 52 % of the cases in the published series. Moreover, the early reoperation rate was significantly lower when compared with the population treated without this tool (0 % vs 7-14 %). Some technical difficulties have been described in literature regarding the use of iMRI in the pediatric population especially for positioning due to the structure of the headrest coil designed for adult patients.

Conclusion: The analysis of the literature and our own experience with iMRI in children indicates significant advantages in the resection of LGG offered by the technique. All these advantages are obtained without elongation of the surgical times or increased risk for complications, namely infection. The main limit for a wider diffusion of iMRI for the pediatric neurosurgical center is the cost required, for acquisition of the system, especially for high-field magnet, and the environmental and organizational changes necessary for its use.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-016-3177-0DOI Listing
October 2016

Cavum septi pellucidi cysts: a survey about clinical indications and surgical management strategies.

Br J Neurosurg 2017 Aug 13;31(4):464-467. Epub 2016 Sep 13.

c Department of Pediatric Neurosurgery, INI International Neuroscience Institute-Hannover, Otto Von Guericke University , Magdeburg , Germany.

Introduction: Cavum septi pellucidi (CSP) cysts have a very low incidence (0.04%). Symptomatic patients usually present aspecific symptoms. For this reason, the management of these patients is still debated.

Materials And Methods: We selected the case of a ten year old patient, with a clinical history of frontal morning headaches and difficulty in concentration. Brain MRI documented a septum pellucidum cyst and a moderate biventricular dilation. We submitted the case, and a questionnaire concerning indications to surgery and management options to an international group of 54 pediatric neurosurgeons, analyzing the results and comparing them with the current literature.

Results: The majority of the participants (50%) indicated as appropriate at the early stage only a clinical observation. In case of persistence of clinical symptoms, 58% opted for intracranial pressure (ICP) monitoring, which, if raised, was considered by 91% as an adequate indication to proceed with surgical treatment. A total of 98% of the participants indicated endoscopic fenestration of the cyst as the preferred surgical strategy.

Conclusions: The management of symptomatic patients with CSP cyst is controversial. Our results suggest that in most of the patients with aspecific symptoms, clinical observation and eventually ICP monitoring are adequate to identify patients for surgery.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/02688697.2016.1229743DOI Listing
August 2017

Quantitative analysis of craniofacial dysmorphology in infants with anterior synostotic plagiocephaly.

Childs Nerv Syst 2016 Dec 19;32(12):2339-2349. Epub 2016 Aug 19.

Istituto di Radiologia, Fondazione Policlinico Universitario Agostino Gemelli, Università Cattolica del Sacro Cuore, L.go A. Gemelli 8, 00168, Rome, Italy.

Purpose: The study aimed to identify premature synostosis of "major" and "minor" sutures of the coronal sutural arch and splanchnocranium sutures to evaluate the relationship between craniofacial dysmorphology and the sutural pattern in children with anterior plagiocephaly.

Methods: A quantitative analysis of the skull base and facial changes was performed on preoperative high-resolution CT images in 18 children with anterior synostotic plagiocephaly and compared with imaging findings in 18 age-matched healthy subjects.

Results: All patients had patent splanchnocranium sutures. Fifteen out of 18 children showed early and isolated synostosis of the unicoronal suture (the major suture of the coronal ring) and were classified in groups II and III according to the classification scheme of anterior synostotic plagiocephaly based on the severity of craniofacial dysmorphology. Premature fusion of the unilateral coronal suture in groups II and III caused a marked asymmetry and reduced growth of the anterior and middle fossae on the synostotic side and a secondary varying severity in terms of asymmetric growth of the facial complex. Although both groups showed anterior displacement of the mandibular articulation on the synostotic side, group II showed only maxillary asymmetry, while group III showed maxillary and mandibular asymmetry.

Conclusions: In anterior synostotic plagiocephaly, the severity of skull base changes and asymmetric growth of the facial complex is not caused by skull base sutural synostotic involvement but is probably related to the different timing of unilateral coronal suture closure.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-016-3218-8DOI Listing
December 2016

Arachnoid cyst: a further anomaly associated with Kallmann syndrome?

Childs Nerv Syst 2016 Sep 5;32(9):1607-14. Epub 2016 Jul 5.

International Neuroscience Institute, Hannover, Germany.

Background: Kallmann syndrome (KS) is defined by the association of hypogonadotropic hypogonadism and anosmia. It is characterized by a significant clinical and genetic heterogeneity; actually, it may present several non-reproductive non-olfactory anomalies, and all the ways of genetic transmission can be involved in the inheritance of the disease. Although six pathogenesis-related genes have been identified so far, KS remains sporadic in 70 % of the cases, and the genetic diagnosis is not available for all of them. The purpose of this paper is to present a further disease that can enrich the wide spectrum of KS variability, that is cerebral arachnoid cyst.

Case Description: This 11-year-old boy presented with the typical characteristics of KS together with those related to a sylvian arachnoid cyst. He was admitted because of worsening headache. At the admission, the physical examination revealed eunuchoid aspect, micropenis, previous cryptorchidism, and anosmia. MRI pointed out a large, left sylvian arachnoid cyst, agenesia of the olfactory bulbs/tracts complex, and hypoplasia of the left olfactory sulcus. The child was operated on by endoscopic fenestration of the cyst, followed by transient external drainage for subdural hygroma and microscopic fenestration for recurrence of the cyst. His statural growth is normal but the sexual development still delayed in spite of hormone replacement therapy.

Conclusion: According to the present and the other four cases in the literature, arachnoid cyst should be included among the anomalies possibly accompanying KS date although this association seems to be occasional as far as embryogenesis and physiopathology are concerned.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-016-3154-7DOI Listing
September 2016