160 results match your criteria Imaging in Hydranencephaly


An unusual presentation of bobble-head doll syndrome in a patient with hydranencephaly and Chiari 3 malformation.

Childs Nerv Syst 2019 May 6;35(5):879-882. Epub 2019 Feb 6.

Department of Surgery, Division of Neurosurgery, College of Health Sciences, University of Zimbabwe, P.O Box A178, Avondale, Harare, Zimbabwe.

Bobble-head doll syndrome is a rare movement disorder that is usually associated with lesions involving the third ventricle. It is characterised by stereotypical rhythmic up-and-down or side-to-side head movements. The pathophysiology and anatomical basis for this unusual manifestation is still a subject of intense scrutiny. Read More

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http://dx.doi.org/10.1007/s00381-019-04054-xDOI Listing
May 2019
2 Reads

Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus.

Pediatr Radiol 2018 07 14;48(7):1032-1034. Epub 2018 Mar 14.

University of Cincinnati College of Medicine, Cincinnati, OH, USA.

Fetal ventriculomegaly is a common referral for prenatal MRI, with possible etiologies being hydrocephalus and hydranencephaly. The underlying cause of hydranencephaly is unknown, but many have suggested that the characteristic supratentorial injury is related to idiopathic bilateral occlusions of the internal carotid arteries from an acquired or destructive event. Fowler syndrome is a rare genetic disorder that causes fetal akinesia and a proliferative vasculopathy that can result in an apparent hydranencephaly-hydrocephaly complex. Read More

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http://link.springer.com/10.1007/s00247-018-4106-z
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http://dx.doi.org/10.1007/s00247-018-4106-zDOI Listing
July 2018
10 Reads

Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia.

Taiwan J Obstet Gynecol 2018 Feb;57(1):119-122

Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.

Objective: We present prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II (TD2) and a review of prenatal diagnosis of brain anomalies associated with TD.

Case Report: A 33-year-old woman was referred for genetic counseling at 25 weeks of gestation because of fetal ultrasound abnormalities. Prenatal ultrasound at 14 weeks of gestation revealed an increased nuchal translucency (NT) and hydrocephalus. Read More

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http://dx.doi.org/10.1016/j.tjog.2017.12.020DOI Listing
February 2018
7 Reads

A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.

J Med Genet 2017 07 6;54(7):490-501. Epub 2017 Mar 6.

Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA.

Background: Hydranencephaly is a congenital anomaly leading to replacement of the cerebral hemispheres with a fluid-filled cyst. The goals of this work are to describe a novel autosomal-recessive syndrome that includes hydranencephaly (multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly (MARCH)); to identify its genetic cause(s) and to provide functional insight into pathomechanism.

Methods: We used homozygosity mapping and exome sequencing to identify recessive mutations in a single family with three affected fetuses. Read More

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http://dx.doi.org/10.1136/jmedgenet-2016-104296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502313PMC
July 2017
24 Reads

Hydranencephaly in Monochorionic-Diamniotic Twins.

Pediatr Neurol 2017 Feb 9;67:107-108. Epub 2016 Sep 9.

Charleston Area Medical Center Pediatric Neurology, Charleston, West Virginia.

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.08.002DOI Listing
February 2017
3 Reads

A Case of Hydranencephaly in Which Ophthalmic Examinations Were Performed.

Case Rep Ophthalmol 2016 Sep-Dec;7(3):142-147. Epub 2016 Sep 16.

Department of Ophthalmology, Osaka Medical College, Takatsuki City, Japan.

Purpose: We performed ophthalmic examinations, including optical coherence tomography (OCT), on a case diagnosed with hydranencephaly.

Case Report: This case involved a female infant born at the gestational age of 35 weeks and 4 days, with the birth weight of 2,152 g, who was one of monochorionic diamniotic twins, and the identical twin died in utero at the gestational age of 24 weeks. After that, examination by fetal echo indicated that she had microcephaly and ventriculomegaly. Read More

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http://dx.doi.org/10.1159/000449123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073785PMC
September 2016
14 Reads

Glioblastoma in hemihydranencephaly: preoperative and postoperative language ability of the right hemisphere.

Acta Neurochir (Wien) 2016 07 5;158(7):1317-23. Epub 2016 May 5.

Department of Neuropsychology, Max Planck Institute for Human Cognitive and Brain Sciences, Leipzig, Germany.

We present the first case report describing a craniotomy for a glioblastoma in a patient with hemihydranencephaly (HHE). Ten years ago our patient had average cognitive and language functions, indicating very good adaption of his single right hemisphere. Due to the tumour he developed a deceleration, deficits in language functions and mild impairments of basic cognitive functions. Read More

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http://link.springer.com/10.1007/s00701-016-2825-1
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http://dx.doi.org/10.1007/s00701-016-2825-1DOI Listing
July 2016
9 Reads

Bilateral population receptive fields in congenital hemihydranencephaly.

Ophthalmic Physiol Opt 2016 05;36(3):324-34

Department of Experimental Psychology, Helmholtz Institute, Utrecht University, Utrecht, The Netherlands.

Purpose: Congenital hemihydranencephaly (HH) is a very rare disorder characterised by prenatal near-complete unilateral loss of the cerebral cortex. We investigated a patient affected by congenital right HH whose visual field extended significantly into the both visual hemifields, suggesting a reorganisation of the remaining left visual hemisphere. We examined the early visual cortex reorganisation using functional MRI (7T) and population receptive field (pRF) modelling. Read More

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http://dx.doi.org/10.1111/opo.12294DOI Listing
May 2016
2 Reads

SEVERE HYDROCEPHALUS, KIDNEY AND SKELETAL ANOMALIES IN A FEMALE PATIENT WITH MILD NEUROLOGICAL ALTERATIONS.

Genet Couns 2016;27(3):419-423

The appearance of untreated severe hydrocephalus with long-term survival is infrequent; here we report a case with these characteristics, mild neurological alterations and kidney and skeletal anomalies. A female patient showed severe hydrocephalus (initially mistaken with hydranencephaly) at 4 years old and left kidney ectopia (initially mistaken with renal agenesis); however, she was derived to the neurology service until she was 12 years old, when she began to present migraine and seizures. At 13 years old the patient was diagnosed with arrested hydrocephalus secondary to aqueduct stenosis, and the seizures worsen thereafter from atonic seizures to complex partial seizures (at 14 years old), presenting generalized seizures at 15 years old. Read More

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October 2018

Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan.

Pediatr Neurol 2016 Jan 28;54:39-42.e1. Epub 2015 Aug 28.

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan. Electronic address:

Background: No population-based surveys of porencephaly, schizencephaly, and hydranencephaly have been conducted in Japan or other Asian countries. We performed a neuroepidemiologic analysis to elucidate the incidence of porencephaly, schizencephaly, and hydranencephaly in Miyagi prefecture, Japan, during 2007-2011.

Methods: We sent inquiry forms in February 2012 to three neonatal intensive care units, 25 divisions of orthopedic surgery in municipal hospitals, 33 divisions of pediatrics including one university hospital, municipal hospitals, pediatric practitioners, and institutions for physically handicapped children located in Miyagi prefecture. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.08.016DOI Listing
January 2016
24 Reads

Central nervous system injury in utero: selected entities.

Pediatr Radiol 2015 Sep 7;45 Suppl 3:S454-62. Epub 2015 Sep 7.

Department of Radiology, Icahn School of Medicine at Mt. Sinai, Internal Mail Box 1234, One Gustave Levy Place, New York, NY, 10024, USA,

This report discusses the syndrome of amnionic bands, anencephaly, schizencephaly and hydranencephaly, four entities whose pathogenesis includes significant injury to the fetus in utero. Read More

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http://dx.doi.org/10.1007/s00247-015-3344-6DOI Listing
September 2015
6 Reads

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.

Clin Genet 2016 Jan 4;89(1):99-103. Epub 2015 Mar 4.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH, OMIM 225790), also known as Fowler syndrome, is a rare autosomal recessive disorder, caused by mutations in FLVCR2. Hallmarks of the syndrome are glomerular vasculopathy in the central nervous system, severe hydrocephaly, hypokinesia and arthrogryphosis. The disorder is considered prenatally lethal. Read More

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http://dx.doi.org/10.1111/cge.12565DOI Listing
January 2016
4 Reads

Volumetric analysis of cerebrospinal fluid and brain parenchyma in a patient with hydranencephaly and macrocephaly--case report.

Croat Med J 2014 Aug;55(4):388-93

Marijan Klarica, University of Zagreb, School of Medicine, Department of Pharmacology and Croatian Institute for Brain Research, Šalata 11, 10 000 Zagreb, Croatia,

The aim of this study was to perform for the first time the intracranial volumetric analysis of cerebrospinal fluid (CSF) and brain parenchyma in the supratentorial and infratentorial space in a 30-year-old female patient with hydranencephaly and macrocephaly. A head scan performed using a 3T magnetic resonance was followed by manual segmentation of the brain parenchyma and CSF on T2 coronal brain sections. The volume of CSF and brain parenchyma was measured separately for the supratentorial and infratentorial space. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157378PMC
August 2014
11 Reads

Hydranencephaly in a newborn with a FLVCR2 mutation and prenatal exposure to cocaine.

Birth Defects Res A Clin Mol Teratol 2015 Jan 30;103(1):45-50. Epub 2014 Jul 30.

Indiana University Medical and Molecular Genetics, Indianapolis, Indiana.

Background: Hydranencephaly is a relatively rare but severe structural brain abnormality that often results in perinatal death. Although several factors including infection and multiple births have been reported to be associated with this birth defect, the underlying etiology is not well understood. Recently, FLVCR2 gene mutations have been implicated in a subset of hydranencephaly cases, following an autosomal recessive pattern of inheritance. Read More

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http://dx.doi.org/10.1002/bdra.23288DOI Listing
January 2015
9 Reads

18F-FDG PET/CT in a 16-year-old patient with hydranencephaly.

Clin Nucl Med 2014 Oct;39(10):e445-7

From the Departments of *Internal Medicine, and †Nuclear Medicine, Kettering Medical Center, Kettering, OH.

A 16-year-old male patient with a past medical history of congenital brain malformation presented for surveillance F-FDG PET/CT scan of left parotid acinic cell adenocarcinoma. F-FDG PET/CT revealed absence of gray matter activity in the bilateral cerebral hemispheres most consistent with hydranencephaly. Hydranencephaly is a rare congenital condition characterized by absent cerebral hemispheres replaced by cerebrospinal fluid-filled sacs. Read More

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http://pdfs.journals.lww.com/nuclearmed/2014/10000/18F_FDG_P
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/RLU.0000000000000316DOI Listing
October 2014
7 Reads

Endoscopic coagulation of choroid plexus in three children with severely advanced forms of hydrocephalus.

J Neurol Surg A Cent Eur Neurosurg 2015 Jan 7;76(1):25-9. Epub 2013 Nov 7.

Centro de Neurocirurgia Pediátrica (CENEPE), São Paulo, Brazil.

Object: The development of modern neuroendoscopic technology brought back the use of choroid plexus surgery for the treatment of some patients with hydrocephalus. This study explored the use of endoscopic coagulation of the choroid plexus (ECCP) for the treatment of severely advanced forms of hydrocephalus in three children.

Patients And Methods: Three children with markedly dilated ventricles underwent ECCP. Read More

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http://dx.doi.org/10.1055/s-0033-1345096DOI Listing
January 2015
34 Reads

[Prenatal diagnosis of central nervous system malformations].

Ideggyogy Sz 2013 Jul;66(7-8):228-34

Fovárosi Szent István es Szent László Kórház, Budapest.

The prenatal diagnosis of fetal malformations have been the subject of numerous publications in the literature. This has dramatically increased in the last 15 years, mainly due to the advent of high-resolution ultrasound. In addition adequate guidelines issued by professional organizations have encouraged the universal approach to the imaging of fetal anatomy as well as malformations. Read More

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July 2013
45 Reads

Hydranencephaly.

Ultrasound Q 2013 Sep;29(3):267-8

Department of Radiology, Maricopa Medical Center, Phoenix, AZ 85008, USA.

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http://dx.doi.org/10.1097/RUQ.0b013e3182a33715DOI Listing
September 2013
8 Reads

Hydranencephaly: a rare cause of delayed developmental milestones.

BMJ Case Rep 2013 Apr 30;2013. Epub 2013 Apr 30.

Department of Medicine, Jawaharlal Nehru Medical College, Aligarh, Uttar Pradesh, India.

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http://dx.doi.org/10.1136/bcr-2013-009589DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3645810PMC
April 2013
4 Reads

Fetal magnetic resonance imaging in hydranencephaly.

J Paediatr Child Health 2013 Apr;49(4):335-6

Paediatric Neurology Centre, Children's Hospital, Cleveland, Ohio, United States.

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http://dx.doi.org/10.1111/jpc.12142DOI Listing
April 2013
3 Reads

Looking at the missing brain: hydranencephaly case series and literature review.

Pediatr Neurol 2013 Feb;48(2):152-8

Department of Molecular Medicine, Section of Legal Medicine, University of Padova, Padua, Italy.

Hydranencephaly is a severe congenital condition where most of the cerebral hemispheres are replaced by a membranous sac. Despite the growing amount of case reports, most pathogenic, phenotypic, and prognostic aspects of hydranencephaly remain controversial. By matching the recent literature data with the findings of our own series (four cases: two fetuses at the twelfth gestational week, a 32-year-old man, and a 14-year-old female), we attempted to date back the insult leading to hydranencephaly to understand its pathogenesis and to explain the basis of its protean phenotype. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.10.009DOI Listing
February 2013
8 Reads

Shunt-related intracranial abscess caused by Staphylococcus lugdunensis in a hydranencephalic patient.

World Neurosurg 2013 Dec 12;80(6):e387-9. Epub 2013 Jan 12.

Department of Neurosurgery, State University of New York Upstate Medical University, Syracuse, New York, USA.

Background: Staphylococcus lugdunensis is a coagulase-negative staphylococcus with aggressive and rapidly progressive infectious behavior. This organism has emerged as an important pathogen implicated in both community-acquired and nosocomial infections, including meningitis, brain abscess, catheter-related bacteremia, and ventriculoperitoneal shunt infection.

Case Description: We report the first known case of Staphylococcus lugdunensis intracranial abscess in a pediatric hydranencephalic patient, caused by a ventriculoperitoneal shunt-related infection. Read More

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http://dx.doi.org/10.1016/j.wneu.2013.01.046DOI Listing
December 2013
6 Reads

Interesting image - is something missing?

Authors:
Beverley Almeida

Arch Dis Child Educ Pract Ed 2013 Aug 25;98(4):153. Epub 2012 Dec 25.

Department of Rheumatology, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK.

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http://dx.doi.org/10.1136/archdischild-2012-303193DOI Listing
August 2013
2 Reads

Long-term outcome for endoscopic third ventriculostomy alone or in combination with choroid plexus cauterization for congenital aqueductal stenosis in African infants.

J Neurosurg Pediatr 2012 Aug 29;10(2):108-11. Epub 2012 Jun 29.

Department of Neurosurgery, Children's Hospital Boston, Boston, Massachusetts 02115, USA.

Object: The authors have previously reported on the overall improved efficacy of endoscopic third ventriculostomy (ETV) combined with choroid plexus cauterization (CPC) for infants younger than 1 year of age. In the present study they specifically examined the long-term efficacy of ETV with or without CPC in 35 infants with congenital aqueduct stenosis treated at CURE Children's Hospital of Uganda during the years 2001-2006.

Methods: Infants with congenital aqueductal stenosis were treated during 2 distinct treatment epochs: all underwent ETV alone, and subsequently all underwent ETV-CPC. Read More

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http://dx.doi.org/10.3171/2012.4.PEDS1253DOI Listing
August 2012
24 Reads

Prenatal sonography in hydranencephaly: findings during the early stages of disease.

J Ultrasound Med 2012 May;31(5):799-804

Fetal Medicine Center, Santiago, Chile.

The purpose of this report is to describe the prenatal sonographic findings in fetuses with hydranencephaly diagnosed during the early stages of disease. Four cases with characteristics of hydranencephaly were retrospectively identified from 2 Latin American fetal medicine referral centers. Information on maternal demographics, sonographic findings, antenatal courses, and pregnancy outcomes was retrieved from the ultrasound reports and medical records. Read More

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http://www.jultrasoundmed.org/content/31/5/799.full.pdf
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May 2012
9 Reads

Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.

Neurogenetics 2012 Aug 15;13(3):189-94. Epub 2012 Apr 15.

Department of Molecular Biology and Genetics, Boğaziçi University, KP 301, Bebek, 34342 Istanbul, Turkey.

Lissencephaly is characterized by deficient cortical lamination. Recently homozygous NDE1 mutations were reported in three kindred afflicted with extreme microcephaly with lissencephaly or microlissencephaly. Another severe developmental defect that involves the brain is microhydranencephaly which manifests with microcephaly, motor and mental retardation and brain malformations that include gross dilation of the ventricles with complete absence of the cerebral hemispheres or severe delay in their development. Read More

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http://dx.doi.org/10.1007/s10048-012-0326-9DOI Listing
August 2012
7 Reads

Hemihydranencephaly syndrome: case report and review.

Dev Neurorehabil 2011 ;14(5):323-9

Department of Pediatrics, Ain Shams University, Cairo, Egypt.

Background: Hemihydranencephaly (HHDNC) is a rare disorder with complete or almost complete unilateral absence of cerebral cortex.

Methods: This study describes a 27 months-old girl presenting with developmental delay and generalized weakness more on the left side. Bilateral blindness was noted since the age of 6 months. Read More

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http://dx.doi.org/10.3109/17518423.2011.593574DOI Listing
January 2012
5 Reads

Magnetic resonance imaging of intracranial malformations in dogs and cats.

Authors:
Edward MacKillop

Vet Radiol Ultrasound 2011 Mar-Apr;52(1 Suppl 1):S42-51

Pittsburgh Veterinary Specialty and Emergency Center (PVS-EC), Pittsburgh, PA 15237, USA.

Intracranial malformations may occur because of an inherent developmental defect or secondary to in utero injury to the brain with subsequent hypoplasia and atrophy. They can cause neurologic deficits in growing animals, although some anomalies may not produce clinical signs until adulthood. Malformations of the brain include hydrocephalus, hydranencephaly/porencephaly, holoprosencephaly, corpus callosum agenesis/dysgenesis, lissencephaly, polymicrogyria, meningoencephalocele, intracranial cysts, cerebellar malformations, and hamartomas. Read More

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http://dx.doi.org/10.1111/j.1740-8261.2010.01784.xDOI Listing
September 2011
5 Reads

Hydranencephaly.

Authors:
S Pant G Kaur J K De

Kathmandu Univ Med J (KUMJ) 2010 Jan-Mar;8(29):83-6

Department of Obstetrics and Gynaecology, Manipal College of Medical Sciences.

Hydranencephaly is a rare congenital condition where the greater portions of the cerebral hemispheres and the corpus striatum are replaced by cerebrospinal fluid and glial tissue. The meninges and the skull are well formed, which is consistent with earlier normal embryogenesis of the telencephalon. Bilateral occlusion of the internal carotid arteries in utero is a potential mechanism. Read More

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May 2011
4 Reads

Hemihydranencephaly: rare disease with key to secrets of the brain.

BMJ Case Rep 2011 Mar 24;2011. Epub 2011 Mar 24.

Department of Medicine, KMC, Manipal, Karnataka, India.

A 21-year-old male presented to us in status epilepticus. On investigation, he was found to have an extremely rare disorder called 'hemihydranencephaly'. Review of literature revealed that hemihydranencephaly was not always incompatible with life and that research into this disorder would help in understanding the development, functioning, untapped potential and reorganisation capacity of the brain. Read More

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http://dx.doi.org/10.1136/bcr.12.2010.3658DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3070369PMC
March 2011
12 Reads

Sonographic diagnosis of brain malformations, part 2: holoprosencephaly - hydranencephaly - agenesis of septum pellucidum - schizencephaly - septo-optical dysplasia.

Authors:
K-H Deeg I Gassner

Ultraschall Med 2010 Dec 29;31(6):548-60; quiz 561-3. Epub 2010 Nov 29.

Sozialstiftung Bamberg, Klinik für Kinder- und Jugendmedizin, Bamberg.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0029-1245651
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http://dx.doi.org/10.1055/s-0029-1245651DOI Listing
December 2010
4 Reads

Poland anomaly and hydranencephaly: An unusual association.

Am J Med Genet A 2010 Dec;152A(12):3182-4

Faculty of Medicine, Division of Neonatology, Department of Pediatrics, Erciyes University, Kayseri, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.33306DOI Listing
December 2010
4 Reads

An unusual case of hydranencephaly presenting with an anterior midline cyst, a posterior calcified mass, cerebellar hypoplasia and occlusion of the posterior cerebral arteries.

Pediatr Radiol 2011 Feb 23;41(2):274-7. Epub 2010 Nov 23.

Neuroradiology Division, Department of Radiology, Children's Hospital Wisconsin, Medical College of Wisconsin, Milwaukee, WI, USA.

We present an unusual case of severe hydranencephaly in a term infant who presented with the following additional unique features, which were discovered on CT, MRI and MR angiography examinations: (1) occlusion of the bilateral posterior cerebral arteries, (2) absence of the occipital lobes, (3) an ovoid calcified mass sitting on the inner table of the occipital bone, (4) severe cerebellar hypoplasia, (5) a dysmorphic cystic diencephalon, (6) a large anterior midline cyst just above the cribriform plate and (7) absence of the falx. These imaging findings were confirmed at autopsy. Read More

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http://dx.doi.org/10.1007/s00247-010-1894-1DOI Listing
February 2011
5 Reads

Hydranencephaly associated with cerebellar involvement and bilateral microphthalmia and colobomas.

Pediatr Radiol 2011 Feb 25;41(2):270-3. Epub 2010 Jun 25.

Department of Radiology, Government Medical College, Nagpur, India.

Hydranencephaly is an encephaloclastic central nervous system disorder characterised by severe destruction of the cerebral hemispheres with preservation of posterior fossa structures. We present MRI and neurosonography features of a unique case of hydranencephaly involving cerebellum (in the form of complete liquefaction of cerebellar hemispheres) and cerebral hemispheres with associated bilateral microphthalmia and ocular colobomas. This is an exceptional case as to the best to our knowledge. Read More

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http://link.springer.com/content/pdf/10.1007/s00247-010-1749
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http://link.springer.com/10.1007/s00247-010-1749-9
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http://dx.doi.org/10.1007/s00247-010-1749-9DOI Listing
February 2011
12 Reads

Frameshift mutations of the ARX gene in familial Ohtahara syndrome.

Epilepsia 2010 Sep;51(9):1679-84

Department of Pediatrics, Yamagata University Faculty of Medicine, Iida-nishi, Yamagata, Japan.

Purpose: Ohtahara syndrome is one of the most severe and earliest forms of epilepsy and is frequently associated with brain malformations, such as hemimegalencephaly. Recently, longer expansion of the first polyalanine tract of ARX was found to be causative for Ohtahara syndrome without brain malformation, whereas premature termination mutations of ARX were found to cause severe brain malformations, such as lissencephaly or hydranencephaly. Both are designated as ARX-related interneuronopathies. Read More

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http://doi.wiley.com/10.1111/j.1528-1167.2010.02559.x
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http://dx.doi.org/10.1111/j.1528-1167.2010.02559.xDOI Listing
September 2010
11 Reads

The cavum septi pellucidi: why is it important?

J Ultrasound Med 2010 Mar;29(3):427-44

Department of Diagnostic Radiology, University of Utah Medical Center, Salt Lake City, Utah, USA.

Objective: The cavum septi pellucidi (CSP) is routinely imaged in the fetal brain during obstetric sonography; in fact, for well over a decade, assessment of the CSP has been considered part of the required elements of a standard examination of fetal morphology in guidelines developed by multiple specialty societies. Our objective is to present the 4 reasons why all practicing sonologists and sonographers should be familiar with this anatomic structure.

Methods: Prenatal sonograms and magnetic resonance imaging examinations are used to review the following topics: terminology, embryology, and anatomy of the CSP; pitfalls in its identification; and a wide variety of abnormalities (predominantly relating to nonvisualization) associated with the CSP. Read More

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March 2010
25 Reads

Idiopathic hypereosinophilia syndrome with loeffler endocarditis, embolic cerebral infarction, and left hydranencephaly: a case report.

Acta Neurol Taiwan 2009 Sep;18(3):207-12

Department of Neurology, Chang Gung Memorial Hospital-Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan.

Purpose: Idiopathic hypereosinophilia syndrome (iHES) is classically defined as prolonged peripheral eosinophilia and multiple organ involvement. The involvement of the heart can lead to intraventricular thrombus because of infiltration of the endomyocardium by eosinophils. Cerebral infarction has been ascribed to thromboembolic events originating from intraventricular thrombus. Read More

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http://www.ant-tnsjournal.com/Mag_Files/18-3/dw2009922102510
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September 2009
10 Reads

Prenatal stroke.

Authors:
Paul Govaert

Semin Fetal Neonatal Med 2009 Oct 6;14(5):250-66. Epub 2009 Aug 6.

Sophia Children's Hospital Erasmus MC Rotterdam, dr Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands.

The main focus of this chapter is the comprehensive description of the neuropathology, the imaging correlates and underlying mechanisms of prenatal stroke. We describe established prenatal stroke in subgroups similar to postnatal stroke: arterial (forebrain or hindbrain) infarction, venous thrombosis, primary lobar haemorrhage. This longitudinal classification should facilitate the study of risk factors and mechanisms. Read More

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http://linkinghub.elsevier.com/retrieve/pii/S1744165X0900060
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http://dx.doi.org/10.1016/j.siny.2009.07.008DOI Listing
October 2009
6 Reads

Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases.

Eur J Med Genet 2009 Nov-Dec;52(6):386-92. Epub 2009 Jul 25.

Laboratoire d'Anatomo-Foeto-Pathologie, Institut de Puériculture et de Périnatalogie, Paris, France.

Cerebral proliferative glomeruloid vasculopathy (PGV) is a severe disorder of brain angiogenesis, resulting in abnormally thickened and aberrant perforating vessels, forming glomeruloids with inclusion-bearing endothelial cells. This peculiar vascular malformation was delineated by Fowler in 1972 as a stereotyped lethal fetal phenotype associating hydranencephaly-hydrocephaly with limb deformities, called Fowler syndrome (FS) or "proliferative vasculopathy and hydranencephaly-hydrocephaly" or "encephaloclastic proliferative vasculopathy" (OMIM#225790). In PGV, the disruptive impact of vascular malformation on the developing central nervous system (CNS) is now well admitted. Read More

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http://dx.doi.org/10.1016/j.ejmg.2009.07.006DOI Listing
February 2010
2 Reads

Post-mortem magnetic resonance imaging and its irreplaceable role in determining CNS malformation (hydranencephaly)--case report.

Brain Dev 2010 May 25;32(5):417-20. Epub 2009 Apr 25.

Department of Radiology, First Medical School, General Teaching Hospital, Charles University in Prague, Praha, Czech Republic.

Post-mortem magnetic resonance appears to be a method supplementary to classic pathological-anatomical autopsy in determining foetal abnormalities. Frequently, it plays a key role, primarily where autopsy options are in some way limited (developed autolysis, dilatation of the ventricular system). This case report demonstrates that post-mortem magnetic resonance imaging can precisely determine the type of congenital malformation (hydranencephaly), by contrast to ultrasound, with which alobar holoprosencephaly has been described, often presenting a differential diagnosis problem. Read More

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http://dx.doi.org/10.1016/j.braindev.2009.03.011DOI Listing
May 2010
12 Reads

Pattern of childhood neuronal migrational disorders in Oman.

Neurosciences (Riyadh) 2009 Apr;14(2):158-62

Department of Child Health, Sultan Qaboos University Hospital, PO Box 38, BW-1, Muscat 123, Sultanate of Oman. Fax. +968 24413128. E-mail: /

Objective: To record the pattern of different neuronal migrational disorders (NMD) and their associated neurological conditions.

Methods: The data were collected at the Child Neurology Services of Sultan Qaboos University Hospital, Oman, from January 1993 to September 2006 from all children with psychomotor delay and epilepsy, who underwent brain imaging (mostly MRI). The MR imaging was used for the diagnosis of a neuronal migration anomaly. Read More

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April 2009
7 Reads

Hydranencephaly in neonates.

Pediatr Neonatol 2008 Aug;49(4):154-7

Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.

Hydranencephaly is characterized by severe dysgenesis of the cerebral hemispheres, with relative preservation of the thalamus, cerebellum and brainstem. Modern neurological imaging techniques have demonstrated that the affected regions are usually localized within the territories of the middle cerebral arteries. Evoked potentials have confirmed the imaging findings. Read More

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http://dx.doi.org/10.1016/S1875-9572(08)60032-7DOI Listing
August 2008
9 Reads

Hydranencephaly associated with interruption of bilateral internal carotid arteries.

Pediatr Neonatol 2008 Apr;49(2):43-7

Division of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.

Hydranencephaly is a rare and fatal central nervous system disorder where all or nearly all of the bilateral cerebral hemispheres are absent. The extensive hollow cerebrum is replaced with cerebrospinal fluid. Clinically, the differential diagnoses of hydranencephaly include severe hydrocephalus and alobar holoprosencephaly. Read More

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http://dx.doi.org/10.1016/S1875-9572(08)60011-XDOI Listing
April 2008
5 Reads

First trimester three-dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46,XX fetus.

Congenit Anom (Kyoto) 2008 Mar;48(1):51-5

Division of Obstetrics and Gynecology, Guastalla Civil Hospital, Guastalla, Reggio Emilia, Italy.

A 19-year-old woman was scanned at 10(+6) weeks gestation by 2D-3D ultrasound. The fetus had a crown-rump length of 40.9 mm, with the cephalic pole occupied by a single cystic cavity measuring 10. Read More

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http://dx.doi.org/10.1111/j.1741-4520.2007.00171.xDOI Listing
March 2008
5 Reads

Chorioretinal dysplasia, hydranencephaly, and intracranial calcifications: pseudo-TORCH or a new syndrome?

Eye (Lond) 2008 May 14;22(5):730-3. Epub 2007 Dec 14.

Department of Ophthalmology, University Hospital Wales, Cardiff, UK.

Purpose: To report the association of severe chorioretinal dysplasia, hydranencephaly, microcephaly, and intracranial calcification in children with no evidence of intrauterine infections.

Methods: Two unrelated female infants with visually inattentive behaviour, hydranencephaly, and intracranial calcification were referred for an ophthalmological opinion.

Results: The fundus examination and computerised tomograms (CT scans) of head were similar in both children. Read More

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http://dx.doi.org/10.1038/sj.eye.6703058DOI Listing
May 2008
2 Reads

Preservation of brainstem neurophysiological function in hydranencephaly.

Authors:
S A Counter

J Neurol Sci 2007 Dec 27;263(1-2):198-207. Epub 2007 Aug 27.

Neurology Department, Harvard Medical School, Massachusetts General Hospital, Harvard Biological Laboratories, Cambridge, MA 02138, United States.

The preservation of central neurophysiological function was assessed in a 32-year-old woman with hydranencephaly using brainstem auditory evoked responses (BAER), auditory middle latency responses (MLR), cortical auditory evoked responses (CER), strobe electroretinograms (ERG), strobe-flash visual evoked responses (VER) and median and tibial nerve somatosensory evoked responses (SER). The BAER to the right ear stimulation revealed wave peaks I through VII with normal thresholds, morphology and latencies, while the BAER in the left ear was abnormal. The auditory MLR and CER were absent. Read More

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http://dx.doi.org/10.1016/j.jns.2007.06.043DOI Listing
December 2007
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A case of partial 14q- with facial features of holoprosencephaly and hydranencephaly.

Pediatr Neurol 2007 Jul;37(1):51-4

Yanagawa Institute for Developmental Disabilities, Fukuoka, Japan.

We report a rare case of facial features of holoprosencephaly associated with hydranencephaly, with a de novo proximal interstitial deletion of the long arm of chromosome 14, specifically, del(14)(q13q21). She was born at 37 weeks of gestation and transferred to our institution at 3 years of age. The patient had midline facial anomalies consisting of cleft palate, defective nasal septum, and hypotelorism, together with endocrine abnormalities such as diabetes insipidus and hypothyroidism. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.02.010DOI Listing
July 2007
6 Reads

Residual visual function after loss of both cerebral hemispheres in infancy.

Authors:
Reinhard Werth

Invest Ophthalmol Vis Sci 2007 Jul;48(7):3098-106

Institute for Social Pediatrics and Adolescent Medicine, University of Munich, München, Germany.

Purpose: To investigate whether and what kind of visual function is still present in the absence of both cerebral hemispheres.

Methods: Binocular visual function of five children who had suffered the loss of both cerebral hemispheres and the visual fields of 30 controls 5 to 12 months of age were examined according to a perimetric method based on forced-choice, preferential-looking methods.

Results: Results show that after the destruction of both cerebral hemispheres, a stimulus presented binocularly beyond 5 degrees eccentricity did not elicit a response. Read More

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http://dx.doi.org/10.1167/iovs.06-1141DOI Listing
July 2007
5 Reads

Pattern of childhood epilepsies with neuronal migrational disorders in Oman.

J Child Neurol 2006 Nov;21(11):945-9

Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.

Neuronal migrational disorders form a significant cause of psychomotor delay and intractable epilepsy in children. Pediatric neurology services are available at Sultan Qaboos University Hospital, Muscat, Oman, which is a tertiary care hospital for the whole country. The children undergoing evaluation for developmental delay and epilepsy formed the subjects of the study. Read More

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http://journals.sagepub.com/doi/10.1177/08830738060210110901
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http://dx.doi.org/10.1177/08830738060210110901DOI Listing
November 2006
7 Reads