170 results match your criteria Imaging in Hydranencephaly


The spectrum of brain malformations and disruptions in twins.

Am J Med Genet A 2020 Nov 18. Epub 2020 Nov 18.

Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, Minnesota, USA.

Twins have an increased risk for congenital malformations and disruptions, including defects in brain morphogenesis. We analyzed data on brain imaging, zygosity, sex, and fetal demise in 56 proband twins and 7 less affected co-twins with abnormal brain imaging and compared them to population-based data and to a literature series. We separated our series into malformations of cortical development (MCD, N = 39), cerebellar malformations without MCD (N = 13), and brain disruptions (N = 11). Read More

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November 2020

Quantitative contrast-enhanced ultrasound of the brain on twin fetal lambs maintained by the extrauterine environment for neonatal development (EXTEND): initial experience.

Pediatr Radiol 2021 01 1;51(1):103-111. Epub 2020 Sep 1.

Department of Radiology, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA, 19104, USA.

Background: With the development of an artificial environment to support the extremely premature infant, advanced imaging techniques tested in this extrauterine system might be beneficial to evaluate the fetal brain.

Objective: We evaluated the feasibility of (a) performing contrast-enhanced ultrasound (CEUS) and (b) quantifying normal and decreased brain perfusion in fetal lambs maintained on the extrauterine environment for neonatal development (EXTEND) system.

Materials And Methods: Twin premature fetal lambs (102 days of gestational age) were transferred to the EXTEND system. Read More

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January 2021

Abnormalities of the Fetal Central Nervous System: Prenatal US Diagnosis with Postnatal Correlation.

Radiographics 2020 Sep-Oct;40(5):1458-1472. Epub 2020 Jul 24.

From the Department of Radiology (S.W.C., S.V.G.) and Department of Obstetrics & Gynecology (B.K.B.), Duke University, 2301 Erwin Rd, Box 3808, Durham, NC 27710.

Fetal central nervous system (CNS) abnormalities are second only to cardiac malformations in their frequency of occurrence. Early and accurate diagnosis at prenatal US is therefore essential, allowing improved prenatal counseling and facilitating appropriate referral. Thorough knowledge of normal intracranial anatomy and adoption of a logical sonographic approach can improve depiction of abnormal findings, leading to a more accurate differential diagnosis earlier in pregnancy. Read More

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Expanding the phenotype of COL4A1-related disorders-Four novel variants.

Brain Dev 2020 Oct 19;42(9):639-645. Epub 2020 Jun 19.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan. Electronic address:

Objective: COL4A1 variant causes severe central nervous system (CNS) anomalies, including hydranencephaly. However, the pathogenic mechanism underlying the COL4A1 phenotype remains unclear. Here, we report de novo COL4A1 variants in four Japanese patients with typical or rare CNS involvement and exhibiting diverse phenotypes. Read More

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October 2020

Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.

Clin Genet 2020 Nov 11;98(5):423-432. Epub 2020 May 11.

Department of Pediatric Neurology, University Hospitals Leuven, Leuven, Belgium.

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH, OMIM 225790), also known as Fowler syndrome, is a rare autosomal recessive disorder of brain angiogenesis. PVHH has long been considered to be prenatally lethal. We evaluated the phenotypes of the first three siblings with survival into adulthood, performed a systematic review of the Fowler syndrome literature and delineated genotype-phenotype correlations using a scoring system to rate the severity of the disease. Read More

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November 2020

Hydranencephaly in a Neonate: A Literature Review.

Neurol India 2020 Jan-Feb;68(1):199-201

Department of Paediatrics and Adolescent Health, Faculty of Medicine, University of Botswana, Private Bag UB00713, Gaborone, Botswana.

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December 2020

Prenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: A novel association.

J Clin Ultrasound 2020 May 20;48(4):235-239. Epub 2019 Dec 20.

University of Tunis El Manar, Tunis, Tunisia.

Dandy-Walker malformation (DWM) may occur as part of Mendelian disorders such as Walker-Warburg and Meckel-Gruber syndromes. We report a novel association with type III lissencephaly in a 22-week male fetus. Ultrasound showed fetal akinesia deformation sequence, single umbilical artery, microlissencephaly, hydranencephaly with cerebral lamination, DWM, and pontocerebellar hypoplasia. Read More

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The Benefits of a Guideline on Safe Termination of Pregnancy for Legal Indications: An Illustrative Case Report of a Hydranencephaly.

Afr J Reprod Health 2019 Jun;23(2):148-151

DDepartment of Radiology Ahmadu Bello University Zaria.

After years of the worsening burden of unsafe abortion and attendant morbidities and mortalities in Nigeria, a National Guideline on the Safe termination of pregnancy for legal indications was enunciated. This report presents and discusses an illustrative case of a hydranencephaly that benefited from it. A 43-year old multipara was informed during routine ultrasonography at booking for antenatal care, at 16 weeks of gestation, of a major defect in her baby and advised to meet her physician. Read More

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Hydranencephaly complicated by central diabetes insipidus: report of two cases and systematic review of literature.

Childs Nerv Syst 2019 07 30;35(7):1165-1171. Epub 2019 Mar 30.

Section of Neurosurgery, Department of Neurosciences, College of Medicine and Philippine General Hospital, University of the Philippines Manila, Taft Avenue, Ermita, 1000, Manila, Philippines.

Purpose: Hydranencephaly is a congenital condition characterized by the complete or near-complete absence of the cerebral cortex and basal ganglia, while central diabetes insipidus (CDI) is a condition characterized by the inability to concentrate urine due to a deficiency in antidiuretic hormone (ADH). CDI is known to occur in midline congenital malformations such as holoprosencephaly and septo-optic dysplasia, but its association with hydranencephaly is less well-established.

Methods: We reported two cases of hydranencephaly complicated by CDI. Read More

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

Childs Nerv Syst 2019 05 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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Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly.

Am J Med Genet A 2019 03 13;179(3):494-497. Epub 2019 Jan 13.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

Biallelic variants in the NDE1 gene have been shown to occur in extreme microcephaly. Most of the patients displayed microlissencephaly but one with microhydranencephaly. We report on three sibs in which the brain MRI and CT scans demonstrated variable degree of reduced volume of cerebral hemispheres and ventriculomegaly. Read More

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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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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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February 2018

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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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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February 2017

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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September 2016

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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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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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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January 2016

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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September 2015

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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January 2016

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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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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January 2015

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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October 2014

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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January 2015

[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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Hydranencephaly.

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

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

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September 2013

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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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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