Publications by authors named "Rahsan Gocmen"

83 Publications

Intracerebral hemorrhage volume estimation: Is modification of the ABC/2 formula necessary according to the hematoma shape?

Clin Neurol Neurosurg 2021 Jun 24;207:106779. Epub 2021 Jun 24.

HacettepeUniversity Hospitals, Neurology Department, Neurocritical Care and Stroke Units, Ankara, Turkey. Electronic address:

Objective: We studied the proposal to modify the ABC/2 formula to ABC/3 for irregular-shaped intracerebral hematoma (ICH) volume estimation.

Patients And Methods: The volume of 133 ICHs were estimated with Kwak's (simplified C; all slices with hemorrhage are considered equal), Kothari's (weighted C) and coronal (reformatted C; measuring C directly on coronal reformatted images) ABC/2 methods, and compared with computer-assisted planimetric measurements. The accuracy, precision and correlation of three ABC/2 methods and their ABC/3 modifications were determined in smooth (Barras' group 1 or 2) and irregular (Barras' group 3-5) shaped ICHs.

Results: As the hematoma size increases, the shape becomes irregular. In all hematomas, both smooth (n = 81) and irregular (n = 52) shaped, Kothari's ABC/2 formula provided the closest result to the planimetric measurement, with an underestimation of 1.77 mL, and 10.2% difference on average. Kothari's ABC/2 disclosed the best correlation (Lin's coefficient=0.9622) regardless of ICH shape. When simplified-ABC/2 method was modified as ABC/3, volume estimation accuracy increased (Correlation coefficient increased from 0.838 to 0.915) for irregular hematomas; however, despite this improvement the accuracy remained below the Kothari's ABC/2 (not ABC/3) method. Neither reformatted coronal ABC/2 nor its ABC/3 modification provided any advantage over ABC/x formulas with slice counting.

Conclusion: Kothari's ABC/2 method is a valid method for estimation of ICH volume for both regular and irregular shaped hematomas. Simplified (Kwak's) ABC/2 or coronal ABC/2, or their /3 counterparts do not provide additional advantage.
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http://dx.doi.org/10.1016/j.clineuro.2021.106779DOI Listing
June 2021

Nimotuzumab therapy in the treatment of pediatric central nervous system tumors: single-center experience.

Naunyn Schmiedebergs Arch Pharmacol 2021 Aug 21;394(8):1769-1777. Epub 2021 Jun 21.

Department of Pediatric Oncology, Faculty of Medicine, Hacettepe University, 06100, Ankara, Turkey.

Relapsed or refractory central nervous system (CNS) tumors still have poor prognosis, and, therefore, new treatment options are required. We retrospectively researched treatment results of patients with CNS tumors treated with nimotuzumab from 2010 to 2015. The study included nine patients with the diffuse intrinsic pontine glioma; eight with medulloblastoma; three each with anaplastic ependymoma, glioblastoma multiforme, and central nervous system primitive neuroectodermal tumor (CNS PNET); two patients with gliomatosis cerebri; and one patient each with other tumor types, including atypical teratoid rhabdoid tumor, thalamic astrocytoma, low-grade glial tumor, high-grade glial tumor, and cribriform neuroepithelial tumor. An objective response was observed in 10 of 33 patients with four patients showing a complete response, three a partial response, and three patients had stable disease. The 2-year overall survival (OS) and progression-free survival (PFS) rates were 35 ±9% and 19 ±8%, respectively. Due to the objective response in medulloblastoma, CNS PNET, and anaplastic ependymoma (MED group), survival rates of this group were analyzed. The 2-year OS and PFS for the MED group were 71 ±12% and 30 ±13%, respectively. The treatment was well tolerated. The treatment responses for medulloblastoma, CNS PNET, and anaplastic ependymoma have been promising. Likewise, some patients with relapsed or progressive CNS tumors may benefit through nimotuzumab-containing regimen.
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http://dx.doi.org/10.1007/s00210-021-02109-yDOI Listing
August 2021

Unraveling neuronal ceroid lipofuscinosis type 2 (CLN2) disease: A tertiary center experience for determinants of diagnostic delay.

Eur J Paediatr Neurol 2021 Jun 4;33:94-98. Epub 2021 Jun 4.

Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Ankara, Turkey. Electronic address:

Objective: To evaluate the clinical phenotype, disease course, laboratory, and genetic features of patients with CLN2 disease over a 20 year period with a special emphasis on risk factors for diagnostic delay.

Methods: Thirty patients (23 families) with CLN2 disease, evaluated between 1996 and 2019 in a tertiary referral center in Turkey, were included. Clinical features, diagnostic pathway, disease course, genetic data, electrophysiological, and neuroimaging findings were analyzed, retrospectively. The patients diagnosed between 1996 and 2009, and 2010-2019 were defined as group 1 (G1), and group 2 (G2), respectively. Patients in these two groups were also compared.

Results: The median age at symptom-onset was 36 months (20 months-7 years). Most common presenting symptoms were seizures (70%), followed by language delay (43%), and psychomotor regression (27%). Median age at diagnosis was 5.2 years (1.6-11 years) with a median 27 months (1 month-7 years) of diagnostic delay. Age at diagnosis was earlier in G2 (4.6 years vs 7 years, p = 0.002), with a shorter time to diagnosis (21 months vs 39 months, p = 0.004). Median time between the onset of first symptoms and death was 8.3 years (SE 1.0). Electroencephalograms (EEG) revealed abnormal features predominantly in posterior hemispheral regions and a photoparoxysmal response to intermittent photic stimulation was detected in 53% of the patients. Cerebellar (96%)/cerebral atrophy (83%), and white matter changes (57%) were the most common radiological abnormalities.

Conclusions: Most of our patients presented with late-infantile onset seizures. Despite increased availability of enzymatic and molecular testing, there is still a considerable diagnostic delay.
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http://dx.doi.org/10.1016/j.ejpn.2021.05.015DOI Listing
June 2021

Lateralized Periodic Discharges in a Patient With Dural Arteriovenous Fistula: SPECT and DWI Studies Suggest They are Ictal.

Clin EEG Neurosci 2021 Apr 26:15500594211012352. Epub 2021 Apr 26.

64005Hacettepe University Faculty of Medicine, Ankara, Turkey.

Lateralized periodic discharges (LPDs) are unilateral electroencephalography (EEG) waveforms, recurring at regular intervals. There has been a long-lasting debate about whether they represent ictal or interictal phenomena. Very few patients in the literature have been investigated with multimodal functional imaging techniques. Here, we present a 58-year-old male patient with symptomatic epilepsy who had cerebral venous sinus thrombosis in the right temporo-parietal area and dural arteriovenous fistula (dAVF) over the left fronto-parietal region. He developed acute speech disturbances and altered mental status after a generalized tonic-clonic seizure. Video-EEG monitoring (VEEGM) demonstrated LPDs over the left fronto-central area, overlapping in part with the dAVF. Diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC) sequences revealed restricted diffusion compatible with cytotoxic edema, whereas single-photon emission computed tomography (SPECT) indicated hyperperfusion in the same region, leading to the conclusion that he was having possible nonconvulsive status epilepticus (NCSE). An increase in antiseizure medications led to gradual improvement in clinical status and the disappearance of LPDs.
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http://dx.doi.org/10.1177/15500594211012352DOI Listing
April 2021

Carbapenem-resistant Klebsiella pneumoniae meningitis and abscess treated with ceftazidime-avibactam.

Enferm Infecc Microbiol Clin (Engl Ed) 2021 Apr 12. Epub 2021 Apr 12.

Hacettepe University Medical Faculty Department of Infectious Diseases and Clinical Microbiology, Turkey.

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http://dx.doi.org/10.1016/j.eimc.2021.03.014DOI Listing
April 2021

Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features.

Am J Med Genet A 2021 06 22;185(6):1888-1896. Epub 2021 Mar 22.

Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Colony stimulating factor 1 receptor (CSF1R, MIM# 164770) encodes a tyrosine-kinase receptor playing an important role in development of osteoclasts and microglia. Heterozygous CSF1R variants have been known to cause hereditary diffuse leukoencephalopathy with spheroids (HDLS, MIM# 221820), an adult-onset leukoencephalopathy characterized by loss of motor functions and cognitive decline. Recently, a new phenotype characterized by brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) with biallelic CSF1R pathogenic variants in the etiology has been described. BANDDOS differs from HDLS by early-onset neurodegenerative changes with additional structural brain abnormalities and skeletal findings resembling dysosteosclerosis (DOS). Described skeletal findings of the disease are highly variable ranging from absence of a skeletal phenotype and milder Pyle disease-like to osteopetrosis and DOS. To date, only a few patients carrying biallelic CSF1R variants have been reported. In this clinical report, we describe three siblings with variable skeletal findings along with neurological symptoms ranging from mild to severe in whom exome sequencing revealed a novel homozygous splice site variant in canonical splice donor site of intron 21 adjacent to an exon, which encoding part of kinase domain of CSF1R along with a review of the literature.
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http://dx.doi.org/10.1002/ajmg.a.62179DOI Listing
June 2021

Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis.

J Hum Genet 2021 Jun 6;66(6):607-611. Epub 2021 Jan 6.

Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.

Dysosteosclerosis (DOS) is a rare sclerosing bone dysplasia characterized by osteosclerosis and platyspondyly. DOS is genetically heterogeneous and causally associated with mutations in three genes, SLC29A3, CSF1R, and TNFRSF11A. TNFRSF11A has been known as the causal gene for osteopetrosis, autosomal recessive 7, and is recently reported to cause DOS in three cases, which show a complex genotype-phenotype relationship. The phenotypic spectrum of TNFRSF11A-associated sclerosing bone dysplasia remains unclear and needs to be characterized further in more cases with molecular genetic diagnosis. Here, we report another TNFRSF11A-associated DOS case with a homozygous missense mutation (p.R129C). The mutation effect is different from the previous three cases, in which truncated or elongated RANK proteins were generated in isoform specific manner, thus enriching our understanding of the genotype-phenotype association in TNFRSF11A-associated sclerosing bone dysplasia. Besides DOS, our case presented with intracranial extramedullary hematopoiesis, which is an extremely rare condition and has not been identified in any other sclerosing bone dysplasias with molecular genetic diagnosis. Our findings provide the fourth case of TNFRSF11A-associated DOS and further expand its phenotypic spectrum.
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http://dx.doi.org/10.1038/s10038-020-00891-wDOI Listing
June 2021

Intracerebral hematoma expansion and intracranial internal carotid artery calcifications.

Clin Neurol Neurosurg 2021 01 12;200:106361. Epub 2020 Nov 12.

Hacettepe University School of Medicine Department of Neurology, Ankara, Turkey. Electronic address:

Background And Aims: Prediction of intracerebral hematoma expansion (IHE) is of critical importance during intracerebral hemorrhage (ICH) management. Given its suggested positive connection with cerebral microvascular disease status, intracranial internal carotid artery wall calcifications (ICAC) on admission computed tomography (CT) studies may contribute to prediction of IHE.

Method: Presence, burden and type [as per Kockelkoren's score] of ICAC were defined in admission CT and CT-angiography of 201 ICH patients [mean age: 70 ± 13 years, 44 % female]. A Kockelkoren's score of <7 indicated intimal calcification [iICAC], while ≥7 indicated non-intimal [or medial] ones [mICAC]. IHE criteria were absolute volume increase of ≥12.5cc or ≥6cc, and relative increase ≥33 % or ≥26 %.

Result: ICAC was diagnosed in 79.6 % of ICH patients. ICAC status was not independent indicator of milder IHE (≥6cc and ≥26 % IHE, both in 27 %). Presence of contralateral mICAC was found to be an independent predictor for higher grade IHE (expβ = 3.44, 95 %CI: 1.47-8.04, for IHE ≥ 12.5cc, diagnosed in 14.4 %; and expβ = 2.67, 95 %CI: 1.29-5.55, for IHE ≥ 33 %, diagnosed in 24 %). Mortality (31 %) was higher in those with ipsilateral any type ICAC (36 % in mICAC, 38 % in iICAC, 17 % in no ICAC, p = 0.017), but this was not independent predictor in logistic regression. Similarly, medial ICAC in both ipsilateral (47 % vs. 31 %, p = 0.037) and contralateral (47 % vs. 30 %, p = 0.017) sides was associated with poorer prognosis (42 %) on univariate, but not multivariate analysis.

Conclusion: Intracranial ICA calcification is highly prevalent in ICH. mICAC may be associated with risk of "high amount" acute hematoma expansion, hospital mortality and poor prognosis.
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http://dx.doi.org/10.1016/j.clineuro.2020.106361DOI Listing
January 2021

Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder.

Pediatrics 2020 11;146(5)

Pediatric Neurology, Department of Pediatrics and.

Autism spectrum disorder (ASD) is the most common disability-causing neurodevelopmental disorder in childhood. Although inborn errors of metabolism (IEM) are rare causes of ASD, they are significant for several reasons, including implications in genetic counseling and determination of prognosis. In this article, we present a 6-year-old boy who presented to us with ASD and was diagnosed with creatine transporter deficiency. Physical and neurologic examination of this patient had not previously raised suspicion of IEM, but twin pregnancy, prematurity, NICU stay due to necrotizing enterocolitis, transient infantile hypotonia, gross-motor delay, breath-holding spells, and a single febrile seizure complicated the history. MRI revealed mild T2-hyperintensity in posterior periventricular white matter. Further evaluation with magnetic resonance spectroscopy, which showed a decreased creatine peak, led to diagnostic investigations for disorders of creatine metabolism, revealing increased urinary creatine:creatinine ratio and a de novo, novel hemizygous frameshift variant in Clinicians are advised to maintain a high index of suspicion for IEM and to evaluate patients with ASD for syndromic features. Although current guidelines from relevant organizations differ in their recommendations regarding the necessity and the extent of metabolic screening in ASD, there is a growing trend toward screening for treatable IEM. In this case report, we present challenges and pitfalls in the diagnostic journey for creatine transporter deficiency and underline the significance of a thorough history and physical examination in the evaluation of a child with ASD.
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http://dx.doi.org/10.1542/peds.2019-3460DOI Listing
November 2020

Characteristic imaging features of neurovascular involvement in primary Sneddon's syndrome: an analysis of 12 cases.

Neurol Sci 2021 Jun 13;42(6):2363-2369. Epub 2020 Oct 13.

Neurology Department, Hacettepe University Hospitals, 06100, Sıhhiye, Ankara, Turkey.

Objective: Sneddon's syndrome is a cerebrocutaneous non-inflammatory progressive distal arteriopathy, characterized by livedo racemosa, stroke, and neuropsychiatric symptoms. Our aim was to highlight the characteristic neuroimaging features of Sneddon's syndrome that might be helpful to clinicians in timely diagnosis of this entity.

Methods: Twelve patients (median age 49 years, 11 female) with primary Sneddon's syndrome, diagnosed in last 10 years, were analyzed from the perspective of magnetic resonance imaging (MRI) features. In addition, a novel pseudoangiomatosis score was defined for grading angiographic abnormalities (range: 0 to 6).

Results: Median interval from the onset of neurological symptoms to diagnosis was 6 years. Presentation was with acute stroke in 5, seizures in 3, dementia/speech problems in 2, seizures plus cognitive dysfunction in 1, and chronic progressive hemiparesis in 1. All patients had a typical lesion pattern on MRI. This included multiple (median 3) cortical-subcortical supratentorial and cerebellar non-territorial infarcts, accompanied by multifocal cerebral atrophy. Of note, large territorial infarcts due to cerebral parent artery occlusion, an embolic pattern with multi-territorial involvement on diffusion-weighted imaging, small vessel disease features like severe white matter involvement or lacunar infarcts, and cerebral hemorrhage in the absence of anticoagulation were not observed. MRI lesion severity was not correlated with angiographic arteriopathy severity, clinical stage, or presentation symptoms.

Conclusion: Sneddon's syndrome is characterized by highly typical clinico-radiological features. Brain MRI has diagnostic value. By knowing the characteristics of the syndrome, misdiagnosis and potentially harmful treatment can be prevented in this entity that might pose a diagnostic challenge.
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http://dx.doi.org/10.1007/s10072-020-04621-0DOI Listing
June 2021

Isolated Sulcal Effacement and Response to Intravenous Thrombolysis in Acute Ischemic Stroke.

J Stroke Cerebrovasc Dis 2020 Oct 29;29(10):105168. Epub 2020 Jul 29.

Hacettepe University Hospitals, Neurology Department, Stroke Unit, Ankara, Turkey. Electronic address:

Background And Purpose: Isolated Sulcal Effacement (ISE) is focal cortical swelling without obscuration of cortical gray-white junction. The available information on its role in acute stroke patients treated with intravenous (IV) tissue plasminogen activator (tPA) is limited.

Methods: ISE along with ASPECT and rLMC collateral score were determined in pre-treatment CT/CT angiography of 195 consecutive acute stroke patients treated with IV tPA "only". In addition, ISE-ASPECT score was created. Role of ISE on responsiveness to IV tPA, thrombolysis-associated hemorrhage and functional outcome were studied in 102 patients with CT-angiography-confirmed anterior system proximal vessel occlusion.

Results: ISE was observed in 12 patients (6.2% of all and 11.4% of those with occlusion of the carotid terminus, M1, or proximal M2) corresponding to excellent specificity (100%) but fair sensitivity (12%) for diagnosis of anterior cerebral circulation proximal artery occlusion. ISE ASPECT score was significantly correlated with rLMC score (p=0.023). Presence of ISE was linked to younger age, female gender, lower NIHSS, along with higher ASPECT and rLMC scores. Albeit not persisted after adjustment for collateral status and NIHSS, dramatic response to IV tPA along with excellent (23% vs. 8%, p<0.05), good (21% vs. 6%, p<0.05) and acceptable (19% vs. 4%, p<0.05) functional outcome were significantly higher in patients with ISE.

Conclusions: As a plain CT marker of sufficient collateral status and increased cerebral blood volume, ISE indicates a better response to IV tPA. However, it should be noted that this relatively rare CT finding is highly specific for cerebral large vessel occlusions amenable neurothrombectomy.
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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2020.105168DOI Listing
October 2020

Rare congenital anomalies of the internal carotid artery: anatomic and radiologic aspects of three cases and review of the literature.

Surg Radiol Anat 2020 Nov 19;42(11):1363-1370. Epub 2020 Aug 19.

Faculty of Medicine, Department of Radiology, Hacettepe University, Ankara, Turkey.

Purpose: Congenital anomaly of the internal carotid artery (ICA) is a rare entity. It is usually discovered incidentally by color doppler carotid sonography, angiography, computerized tomography (CT), or magnetic resonance imaging of the head and neck region taken for some other reasons. The aim of this study was to detect congenital ICA anomalies, to delineate existing collateral vessels and to find out its incidence.

Methods: 1847 patients' CT angiography images of the head and neck region taken between May 2013 and February 2018 were retrospectively evaluated for ICA anomalies.

Results: We detected three cases (0.16%) with unilateral agenesis of ICA, bilateral agenesis of ICA and bilateral hypoplasia of ICA, respectively. Most patients are asymptomatic because of collateral cerebral circulation supplied by the communicating arteries of the circle of Willis, intercavernous anastomosis, communicating arteries from the external carotid artery, and by persistent embryologic arteries to the carotid artery territory.

Conclusion: Recognition of ICA anomalies has important implications during planned carotid or transsphenoidal surgery, in thromboembolic disease, and in the follow-up and detection of associated cerebral aneurysms.
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http://dx.doi.org/10.1007/s00276-020-02549-wDOI Listing
November 2020

Myelin oligodendrocyte glycoprotein antibody associated central nervous system demyelinating disease: a tertiary center experience from Turkey.

Mult Scler Relat Disord 2020 Sep 4;44:102376. Epub 2020 Jul 4.

Department of Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Background: To identify the clinical and radiological characteristics of adult patients with myelin oligodendrocyte glycoprotein antibody disease (MOG-AD) in a Turkish cohort.

Methods: Clinical and radiological data were obtained retrospectively. Serological testing was done with fixed and live cell-based assays.

Results: Optic neuritis was the most common presenting symptom, and neuromyelitis optica spectrum disorder (NMOSD) without aquaporin-4 antibody (AQP4-IgG) was the most common phenotype. Most patients had a relapsing course. Steroid dependency was common. Conus involvement was a frequent clinical and radiological feature. Radiological features such as long segment involvement and perineural optic nerve gadolinium enhancement were also typical in our cohort. One patient presented with encephalopathy and seizures, pointing out to the importance of testing of myelin oligodendrocyte antibody (MOG-IgG) in such patients as well.

Conclusion: Myelin oligodendrocyte glycoprotein antibody disease is a heterogeneous clinical entity with characteristic clinical and radiological features. Our single-center experience underlines prominent clinical and magnetic resonance imaging (MRI) features and provides our treatment experiences.
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http://dx.doi.org/10.1016/j.msard.2020.102376DOI Listing
September 2020

Pontine Tegmentum Lesions Accompanying Myelitis During an Enterovirus Outbreak: Differential Diagnosis and Outcome.

J Child Neurol 2020 07;35(8):501-508

Department of Pediatric Neurology, Ihsan Doğramaci Children's Hospital, Faculty of Medicine, Hacettepe University, Ankara.

Aim: To investigate etiology and prognostic significance of pontine tegmentum lesions accompanying a cluster of acute flaccid myelitis.

Method: We retrospectively examined patients from 6 centers in Turkey who manifested encephalitis or myelitis associated with dorsal pontine lesions on magnetic resonance imaging (MRI) between July 2018 and February 2019.

Results: Twenty-two patients were evaluated. Ten of 22 (45%) presented with acute paralysis and 12 of 22 (55%) with brainstem symptoms only. Reverse transcription polymerase chain reaction for enterovirus was positive in 2 patients' respiratory tract. Other etiologic factors were detected in 10 cases. On follow-up, patients presenting with symptoms of myelitis developed motor sequalae although spinal cord lesions on MRI resolved in 5 of 9 (55%). Encephalitic symptoms, present in 17 cases, recovered in 13 (76%), and brain MRI showed complete or near-complete resolution in 11 of 14 (78%).

Conclusion: Various etiologic agents can be detected in patients with pontine involvement, even in a series collected during an outbreak of EV-D68. Encephalitis has a fair outcome but clinical recovery is slow and motor sequalae are frequent in spinal involvement, irrespective of follow-up spinal MRI findings.
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http://dx.doi.org/10.1177/0883073820911737DOI Listing
July 2020

Acute Cerebellitis or Postinfectious Cerebellar Ataxia? Clinical and Imaging Features in Acute Cerebellitis.

J Child Neurol 2020 05 12;35(6):380-388. Epub 2020 Mar 12.

Department of Pediatric Neurology, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey.

Acute cerebellitis is a rare condition often considered within the group of acute postinfectious cerebellar ataxia despite its distinctive clinical and imaging features. We retrieved clinical, laboratory, and follow-up data of 15 children diagnosed with acute cerebellitis in our department between 2011 and 2019. There were 10 boys and 5 girls aged 3-15 years, median 9.5 years. The most common first symptoms were ataxia, vomiting, and headache. Magnetic resonance imaging (MRI) generally showed bilateral symmetrical T2 hyperintense changes with moderate swelling in the cerebellar cortex. Tonsillar herniation was present in 73.3% and obstructive hydrocephalus in 26.6%. Etiologic workup for infectious pathogens revealed , influenza A virus, cytomegalovirus, and varicella zoster virus in 1 case each. Fourteen of 15 patients were treated with intravenous and/or oral steroids and 8 cases with intravenous immunoglobulin. No patient required surgical decompression. Neurologic examination median 12 months later revealed ataxia and dysmetria in 4 cases (27%), accompanied by memory difficulties, dysarthria or tremor. Follow-up magnetic resonance imaging (MRI; n = 12) showed diffuse cerebellar cortical T2-hyperintense signal changes in 11 cases and cerebellar atrophy in 9. The diagnosis of acute cerebellitis rather than acute postinfectious cerebellar ataxia should be considered when headache and vomiting accompany ataxia in a child. Acute cerebellitis heals with sequelae in about one-third of cases. The absence of fatalities in our series suggests early diagnosis, and steroid treatment can increase the chance of recovery. MRI results were not found to be predictive of outcome.
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http://dx.doi.org/10.1177/0883073820901407DOI Listing
May 2020

The determinants of neurological phenotypes during acute hypertensive crises - a preliminary study.

Neurol Res 2020 May 2;42(5):398-404. Epub 2020 Mar 2.

Department of Neurology, Hacettepe University, Ankara, Turkey.

: Acute blood pressure elevations lead to wide spectrum of neurologic manifestations, ranging from no overt neurologic symptoms to catastrophic events like ICH. Little is known regarding the determinants of this clinical variability. We determined clinical and imaging features of hypertensive crisis patients with normal neurological examination, ICH and posterior reversible encephalopathy syndrome (PRES).: Cranial MRI was performed in patients with hypertensive urgency or emergency but normal neurological examination. Their clinical characteristics, and imaging features regarding cerebral small vessel disease were compared to ICH and PRES patients.: Hypertensive ICH patients (n = 58) were older, less likely to have hyperlipidemia, less commonly used calcium channel blockers, and had higher burden of chronic cSVD features in comparison to hypertensive crisis patients with normal neurological findings (n = 51). Multivariate analyses revealed cSVD burden score (p = 0.003) to be related with ICH, while higher admission blood pressure levels (p < 0.001), hyperlipidemia (p = 0.006) and calcium channel blocker usage (p = 0.005) were more common in patients with normal neurological examination. The PRES (n = 9) group was comprised of younger patients with recent history of hypertension and low burden of cSVD.: Hypertensive surge is associated with ICH when cSVD burden is high, probably caused by microvascular dysfunction secondary to long-standing hypertension, while the episode causes no structural damage if this burden is less. Although our observations are exploratory, short term but severe hypertension manifests with PRES possibly due to the absence of adaptive changes.
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http://dx.doi.org/10.1080/01616412.2020.1735121DOI Listing
May 2020

The dynamics of hematoma surface regularity and hematoma expansion in acute intracerebral hemorrhage.

J Clin Neurosci 2020 Apr 20;74:160-163. Epub 2020 Feb 20.

Department of Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey. Electronic address:

The clarification of factors that contribute to hematoma expansion in the setting of intracerebral hemorrhage (ICH) and the relevant physical dynamics are implemental for development of management strategies. Herein, we assessed the interplay between hematoma expansion and surface regularity of intracerebral bleeds. To do so, hematoma contours were outlined on admission and follow-up computed tomography (CT) studies using semi-automated thresholding algorithms in 133 ICH patients. Hematoma volume, surface area and surface regularity [SR=6√πvolumesurfacearea, ranging from 0 (very irregular surface) to 1 (perfectly regular surface suggestive of 3D spherical structure)] were determined by 3D Slicer software (www.slicer.org). Hematoma growth was defined as ≥33% relative growth, or ≥ 6 mL absolute growth. Our results are as follows: The median (IQR) hematoma volume was 14.2 (6.0-34.9) mL on admission CT obtained 2.4 (1.5-4.4) hours after symptom onset; the mean ± SD SR value was calculated as 0.62 ± 0.14. Patients who underwent imaging at earlier time points were more likely to have higher SR (r = 0.18; p = 0.035). The median hematoma volume at follow-up, 35 (21-47) hours after the initial scan, was 19.7 (6.9-44.4) mL. The regularity index decreased significantly at this time point to 0.58 ± 0.13 (p < 0.001) and corresponding increase of surface irregularity was independent of change in hematoma volume. Baseline hematoma volume, INR, and time to initial imaging were significant predictors of hematoma expansion. In conclusion, our findings suggest that hematomas evolve into more irregular 3D shapes during follow-up. These observations are consistent with the 'domino' hypothesis put forward for ICH expansion.
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http://dx.doi.org/10.1016/j.jocn.2020.01.081DOI Listing
April 2020

The Effect of Clot Volume and Permeability on Response to Intravenous Tissue Plasminogen Activator in Acute Ischemic Stroke.

J Stroke Cerebrovasc Dis 2020 Feb 3;29(2):104541. Epub 2019 Dec 3.

Hacettepe University, Faculty of Medicine, Department of Neurology, Neurocritical Care Unit, Ankara. Electronic address:

Background And Aims: The characteristics of clot causing acute ischemic stroke, such as size, content, and location, are among the main determinants of response to intravenous tissue plasminogen activator [IV tPA]. Clot heterogeneity and permeability are under-recognized features that might provide additional information in predicting the efficacy of IV tPA.

Methods And Patients: Patients with proximal middle cerebral artery occlusion treated with "IV tPA alone" were included. The mean Hounsfield's unit (HU) value, as objective measure of clot attenuation, and its standard deviation (SD), as proposed measure of clot heterogeneity, were obtained. The difference in HU values between CT Angiography and CT was defined as "clot permeability", or "perviousness'. The size (length and volume-mm3) of pre-clot pouch and occluding clot along with ASPECT score and Maas' silvian and leptomeningeal collateral score were measured.

Results: The study included 84 cases (44 women, age: 68 ± 14 years, pretPA NIHSS: 16 ± 5). Patients with excellent response to tPA (31%) had lower thrombus volume (37.54 ± 32.37 versus 63.49 ± 37.36, P = .009) and heterogeneity (4.05 ± 1.49 versus 5.35 ± 2.34, P = .011), along with higher clot permeability (48 ± 35.48 to 31.32 ± 18.62, P = .006). However, significance of permeability did not survived in the regression analysis with adjustment for NIHSS (β:-.296, P = .003); clot volume (β:-.240, P = .014) and collateral status (β:.346, P < .001). In patients with good prognosis, clot volume was significantly lower (37.76 ± 30.08 versus 67.57 ± 37.83, P < .001), whereas permeability was significantly higher (43.97 ± 32.33 versus 31.13 ± 19.01, P = .026). However, this effect did not persist in the regression analysis after adjustment for NIHSS (β:-.399, P < .001), collateral status (β: .343, P < .001) and clot volume (β:-.297, P = .001). Clot permeability was significantly higher (45.78 ± 36.34 versus 33 ± 20.2, P = .045) and heterogeneity was lower (4.1 ± 1.55 to 5.27 ± 2.32, P = .028) in patients with dramatic response to tPA (27%). In patients responding positively to IV tPA (48%), clot permeability was numerically higher (39.85 ± 31.79 to 33.47 ± 19.28, P = .268), while clot volume (48.15 ± 34.5 to 62.07 ± 39.62, P = .093) was lower. Clot volume, permeability and heterogeneity did not show a significant difference in any (38.1%) or symptomatic (8.3%) bleeders after IV tPA. The chance of IV tPA to be beneficial increased in patients with clot volume lower than 45 mm, with an increased likelihood of this benefit to be observed within the first day after IV tPA. Our detailed explorative ROC analysis was not able to detect a volume threshold above which the positive effect of IV tPA disappeared.

Conclusion: Clot volume is critical for the effectiveness of IV tPA in acute ischemic stroke. Clot permeability and heterogeneity may modify its effect. CT technologies, which are readily available when evaluating a stroke patient in an emergency setting, provide us with useful parameters regarding the size, permeability and heterogeneity of the clot.
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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2019.104541DOI Listing
February 2020

Recurrent Demyelinating Episodes as Sole Manifestation of Inherited CD59 Deficiency.

Neuropediatrics 2020 06 21;51(3):206-210. Epub 2019 Nov 21.

Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

Defects in the regulatory components of the complement system can lead to inflammatory diseases. We present a patient who had four episodes of demyelination in the central nervous system as the only manifestation of inherited CD59 deficiency. Relapsing encephalopathy partially responsive to intravenous immunoglobulin and steroid treatments on the background of parental consanguinity suggested an inherited immune dysregulation. Next generation sequencing revealed homozygous mutation in the CD59 gene, confirmed by lack of CD59 expression on flow cytometry. Inherited CD59 deficiency is a rare autosomal recessive condition characterized by chronic hemolysis, recurrent strokes, and relapsing peripheral demyelinating neuropathy mimicking Guillain-Barré syndrome or chronic inflammatory demyelinating polyneuropathy. Recurrent central nervous system demyelinating episodes as the only manifestation has not been reported to date in inherited CD59 deficiency. This entity should be considered in the differential diagnosis of patients with early-onset recurrent neurological diseases with central or peripheral origin.
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http://dx.doi.org/10.1055/s-0039-3399583DOI Listing
June 2020

ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes.

Am J Med Genet A 2019 12 4;179(12):2474-2480. Epub 2019 Oct 4.

Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Noonan syndrome-like disorder with loose anagen hair (NS/LAH) is one of the RASopathies, a group of clinically related developmental disorders caused by germline mutations in genes that encode components acting in the RAS/MAPK pathway. Among RASopathies, NS/LAH (OMIM 607721) is an extremely rare, multiple anomaly syndrome characterized by dysmorphic facial features similar to those observed in Noonan syndrome along with some distinctive ectodermal findings including easily pluckable, sparse, thin, and slow-growing hair. ADA2 deficiency (DADA2, OMIM 615688) is a monogenic autoinflammatory disorder caused by homozygous or compound heterozygous mutations in ADA2, with clinical features including recurrent fever, livedo racemosa, hepatosplenomegaly, and strokes as well as immune dysregulation. This is the first report of NS/LAH and ADA2 deficiency in the same individual. We report on a patient presenting with facial features, recurrent infections and ectodermal findings in whom both the clinical and molecular diagnoses of NS/LAH and ADA2 deficiency were established, respectively.
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http://dx.doi.org/10.1002/ajmg.a.61363DOI Listing
December 2019

The effect of carotid artery stenting on capillary transit time heterogeneity in patients with carotid artery stenosis.

Eur Stroke J 2018 Sep 26;3(3):263-271. Epub 2018 Apr 26.

Department of Neurology, Faculty of Medicine, Hacettepe University, Turkey.

Introduction: Carotid revascularisation improves haemodynamic compromise in cerebral circulation as an additional benefit to the primary goal of reducing future thromboembolic risk. We determined the effect of carotid artery stenting on cerebral perfusion and oxygenation using a perfusion-weighted MRI algorithm that is based on assessment of capillary transit-time heterogeneity together with other perfusion and metabolism-related metrics.

Patients And Methods: A consecutive series of 33 patients were evaluated by dynamic susceptibility contrast perfusion-weighted MRI prior to and within 24 h of the endovascular procedure. The level of relative change induced by stenting, and relationship of these changes with respect to baseline stenosis degree were analysed.

Results: Stenting led to significant increase in cerebral blood flow ( < 0.001), and decrease in cerebral blood volume ( = 0.001) and mean transit time ( < 0.001); this was accompanied by reduction in oxygen extraction fraction ( < 0.001) and capillary transit-time heterogeneity ( < 0.001), but an overall increase in relative capillary transit-time heterogeneity (RTH: CTH divided by MTT;  = 0.008). No significant change was observed with respect to cerebral metabolic rate of oxygen. The median volume of tissue with MTT > 2s decreased from 24 ml to 12 ml ( = 0.009), with CTH > 2s from 29 ml to 19 ml ( = 0.041), and with RTH < 0.9 from 61 ml to 39 ml ( = 0.037) following stenting. These changes were correlated with the baseline degree of stenosis. Stenting improved the moderate stage of haemodynamic compromise at baseline in our cohort. The decreased relative transit-time heterogeneity, which increases following stenting, is probably a reflection of decreased functional capillary density secondary to chronic hypoperfusion induced by the proximal stenosis. Carotid artery stenting, is not only important for prophylaxis of future vascular events, but also is critical for restoration of microvascular function in the cerebral tissue.
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http://dx.doi.org/10.1177/2396987318772686DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6453199PMC
September 2018

Diagnostic challenge: A case of late-onset spinal form cerebrotendinous xanthomatosis.

Neurology 2019 02;92(9):438-439

From the Departments of Neurology (D.M., A.T., G.Y.-C., S.S., B.E.) and Radiology (R.G.), Faculty of Medicine, Hacettepe University, Sihhiye, Ankara, Turkey.

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http://dx.doi.org/10.1212/WNL.0000000000007015DOI Listing
February 2019

The Relevance of Neuroimaging Findings to Physical Disability in Multiple Sclerosis.

Authors:
Rahşan Göçmen

Noro Psikiyatr Ars 2018 ;55(Suppl 1):S31-S36

Hacettepe University School of Medicine, Department of Radiology, Ankara, Turkey.

Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system and one of the leading causes of disability in young adults. While some patients with MS have a benign course in which they develop limited disability even after many years, other patients have a rapidly progressive course resulting in severe disability. However, the progression of the disease, particularly disability, is currently a predictable course with neuroimaging features to some extend. Magnetic resonance imaging (MRI) is not only the main diagnostic tool but also used to monitor response to therapies, thanks to its high sensitivity and ability to identify clinically silent lesions. This report presents a literature review which examines in detail the relationship between MRI findings and disability.
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http://dx.doi.org/10.29399/npa.23409DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278625PMC
January 2018

Trigeminal nerve and pathologies in magnetic resonance imaging - a pictorial review.

Pol J Radiol 2018 16;83:e289-e296. Epub 2018 Jun 16.

Department of Radiology, Hacettepe University Faculty of Medicine, Sıhhiye, Ankara, Turkey.

A variety of conditions may affect the trigeminal nerve. Magnetic resonance imaging is the modality of choice when trigeminal nerve pathology is suspected, and this modality plays an essential role in detecting causes. This review illustrates some of the pathological conditions relevant to the trigeminal nerve in magnetic resonance imaging.
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http://dx.doi.org/10.5114/pjr.2018.76921DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323605PMC
June 2018

Response to Early Coenzyme Q10 Supplementation Is not Sustained in CoQ10 Deficiency Caused by CoQ2 Mutation.

Pediatr Neurol 2018 11 27;88:71-74. Epub 2018 Jul 27.

Division of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address:

Background: COQ2 mutations cause a rare infantile multisystemic disease with heterogeneous clinical features. Promising results have been reported in response to Coenzyme Q10 treatment, especially for kidney involvement, but little is known about the long-term outcomes.

Methods: We report four new patients from two families with the c.437G→A (p.Ser146Asn) mutation in COQ2 and the outcomes of two patients after long-term coenzyme Q10 treatment.

Results: Index cases from two families presented with vomiting, nephrotic range proteinuria, and diabetes in early infancy. These patients were diagnosed with coenzyme Q10 deficiency and died shortly after diagnosis. Siblings of the index cases later presented with neonatal diabetes and proteinuria and were diagnosed at the first day of life. Coenzyme Q10 treatment was started immediately. The siblings responded dramatically to coenzyme Q10 treatment with normalized glucose and proteinuria levels, but they developed refractory focal clonic seizures beginning at three months of life that progressed to encephalopathy.

Conclusions: In our cohort with CoQ10 deficiency, neurological involvement did not improve with oral coenzyme Q10 treatment despite the initial recovery from the diabetes and nephrotic syndrome.
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http://dx.doi.org/10.1016/j.pediatrneurol.2018.07.008DOI Listing
November 2018

Differences in diffusion tensor imaging changes between narcolepsy with and without cataplexy.

Sleep Med 2018 12 18;52:128-133. Epub 2018 Sep 18.

Hacettepe University, Faculty of Medicine, Department of Radiology, Ankara, Turkey.

Objective: The distinctive clinical finding of Type 1 narcolepsy compared to Type 2 is the presence of cataplexy. Several neuroimaging studies have also reported abnormalities in narcolepsy patients with or without cataplexy. However, there are conflicting results to differentiate them. In this study, we aimed to clarify the white matter changes in narcolepsy patients both with and without cataplexy and compared them with healthy adults to evaluate microstructural differences in the brain.

Methods: Eleven narcolepsy patients with cataplexy (NC), 12 narcolepsy patients without cataplexy (NOC) and healthy age- and gender-matched controls (N = 16) were studied. Whole-brain diffusion tensor imaging (DTI) was obtained and tract-based spatial statistics were used to localize white matter abnormalities.

Results: Compared with the healthy controls, both NC and NOC patients exhibited significant fractional anisotropy (FA) decreases in the bilateral cerebellar hemispheres, bilateral thalami, the corpus callosum and left anterior-medial temporal white matter. Compared with the controls, the NC patients' FA values were also decreased in the midbrain. No significant correlations were found between FA values and clinical-polysomnographic variables.

Conclusion: This DTI study has demonstrated white matter abnormalities in the midbrain-brainstem regions as a distinctive finding of narcolepsy patients with cataplexy. Involvement of bilateral temporal lobes with greater changes on the left lobe is also a supporting finding of patients with cataplexy. DTI changes in the midbrain-brainstem and bilateral temporal lobes can be signs of different pathological mechanisms in these patients.
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http://dx.doi.org/10.1016/j.sleep.2018.08.022DOI Listing
December 2018

Concurrence of juvenile idiopathic arthritis and primary demyelinating disease in a young child.

Mult Scler Relat Disord 2019 Jan 3;27:20-22. Epub 2018 Oct 3.

Department of Pediatric Neurology, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey.

Case Report: The association of juvenile idiopathic arthritis (JIA) and primary demyelinating disease of central nervous system (CNS) in the same patient is rare. Here we present a 10-year-old girl formerly diagnosed with JIA who presented with acute total vision loss. Magnetic resonance imaging of the brain and spinal cord showed bilateral optic neuritis and T2 hyperintense lesions in the brain, cerebellum and cervical spinal cord, some of them gadolinium-enhancing. Oligoclonal bands were present in the cerebrospinal fluid. Visual evoked potentials were prolonged. Aquaporin-4 antibodies were negative. The patient was treated with methylprednisolone 30 mg/kg daily for five days, resulting in improvement in vision and gait. This first demyelinating event in this patient with JIA with clinical and paraclinical features meeting the 2017 MS diagnostic criteria supports a possible predisposition to autoimmune disorders.

Conclusion: The concurrence of JIA and multiple sclerosis (MS) has been reported in only two adult cases and not in the pediatric population. While JIA and MS are two distinct chronic inflammatory diseases, immunogenetic predisposition and common environmental triggers might be involved.
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http://dx.doi.org/10.1016/j.msard.2018.10.002DOI Listing
January 2019

Retrospective analysis of children with myelin oligodendrocyte glycoprotein antibody-related disorders.

Mult Scler Relat Disord 2018 Nov 10;26:1-7. Epub 2018 Sep 10.

Department of Pediatric Neurology, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey. Electronic address:

Background: Knowledge has been expanding on myelin oligodendrocyte glycoprotein (MOG) antibody-associated central nervous system disorders. We delineate the clinical and paraclinical findings and outcome of our pediatric patients with MOG antibody seropositive disease.

Methods: We retrospectively analyzed the clinical presentation, cerebrospinal fluid findings, magnetic resonance imaging (MRI) studies, course and outcome of children seropositive for anti-MOG IgG.

Results: Total 20 children with neurological symptoms and serum anti-MOG IgG were identified from six centers in Turkey. Median age at onset was 9 years (mean 8.8 ± 5.0 years, range: 1.5-16.5 years). Final diagnoses were acute disseminated encephalomyelitis (ADEM) (n = 5), ADEM + optic neuritis (n = 4), neuromyelitis optica spectrum disorder (NMOSD) (n = 3), myelitis (n = 2), relapsing optic neuritis (n = 2), multiphasic DEM (n = 3), and unclassified relapsing demyelinating disease (n = 1). Seven/20 (35%) children experienced a single episode while 13/20 (65%) had a least one relapse during follow-up. On MRI, subcortical white matter, brainstem, and corpus callosum were preferentially involved regions. Full recovery was observed in 15/20 (75%) children.

Conclusion: MOG autoimmunity in children has a wide clinical spectrum, tendency to relapse, and a favourable outcome compared with other relapsing demyelinating diseases.
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http://dx.doi.org/10.1016/j.msard.2018.07.022DOI Listing
November 2018
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