Subependymal heterotopia (SEH) is a neuronal migration disorder characterized by nodules of gray matter along the lateral ventricular walls and often associated with other brain malformations. We present two cases of SEH associated with ventriculomegaly and cerebellar abnormalities diagnosed by fetal magnetic resonance imaging (MRI) at 20 and 23 weeks' gestation respectively. Fetal MRI findings of this association of abnormalities have never been reported in literature. This report emphasizes the role of fetal MRI in recognition of subependymal heterotopia and other associated brain anomalies at early age of gestation along with its importance for a more targeted counseling and management strategies.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3888336 | PMC |
| http://dx.doi.org/10.3941/jrcr.v7i11.1457 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Imaging in atypical van der knaap disease with subependymal nodular heterotopia: A case report.
Radiol Case Rep
February 2025
Junior Resident, Department of Radiodiagnosis, Kempegowda Institute of Medical Sciences Hospital and Research Centre, Rajiv Gandhi University of Health Sciences, Bangalore, 560004, Karnataka, India.
Here, we discuss a rare and to our knowledge, the first case of an atypical Van der Knaap's disease in a 6-year-old boy who presented with motor difficulties, developmental delay, cognitive impairment, seizures. The objective of this report is to highlight its unusual findings on MRI including internal capsule, brainstem, cerebellum involvement; subependymal nodular heterotopia, subependymal cysts, cortical laminar necrosis along with typical findings of megalencephalic leukoencephalopathy and subcortical cysts. The study also underscores the clinical implications of this complex pathology, with emphasis on comprehensive neuroradiological evaluation for atypical presentations to guide better diagnostic and management outcomes.
View Article and Find Full Text PDFCorpus callosal agenesis with gray matter heterotopia and bilateral eye coloboma in an infant: A case report.
Radiol Case Rep
December 2024
Department of Radiodiagnosis, Nepalese Army Institute of Health Sciences, Kathmandu, Nepal.
Corpus callosal agenesis (CCA) is a rare congenital disorder characterized by the partial or complete absence of the corpus callosum, a structure crucial for interhemispheric communication. CCA can occur in isolation or be associated with other anomalies such as heterotopia, holoprosencephaly, cerebellar hypoplasia, coloboma, and hydrocephalus. The prevalence of CCA ranges from 0.
View Article and Find Full Text PDFPrenatal Diagnosis and Outcomes of Cervical Meningocele and Myelomeningocele.
J Med Ultrasound
January 2024
Department of Obstetrics and Gynecology, New Taipei Municipal Tucheng Hospital, New Taipei, Taiwan.
Prenatal diagnosis of myelomeningocele remains challenging for obstetricians, ultrasonographers, and radiologists, although the increased maternal serum alpha-fetoprotein level aids in the confirmative diagnosis. Fetal cervical myelomeningocele and meningocele are very rare and unique types of myelomeningocele. Prenatal diagnosis of cervical myelomeningocele and meningocele should include the differential diagnosis and association of many intracranial and spino-skeletal pathogenetic variants and genetic diseases, including subependymal nodular heterotopia and Klippel-Feil syndrome.
View Article and Find Full Text PDFSinus of Valsalva Aneurysm: A Potential Case of Filamin A Mutation.
Cureus
September 2023
Cardiology, Royal Cornwall Hospitals, Truro, GBR.
Filamin A is a protein essential for cytoskeleton production, encoded by the X-lined dominantly inherited FLNA gene. A deficiency in filamin A can lead to cardiac valvular dysplasia and periventricular nodular heterotopia in the brain. Notably, periventricular heterotopia Type 1 has associations with cardiovascular abnormalities.
View Article and Find Full Text PDFSurgical treatment of epilepsy in a patient with bilateral periventricular nodular heterotopia: A case report.
Surg Neurol Int
August 2023
Department of Rehabilitation Medicine, Federal Center of Neurosurgery, Novosibirsk, Russian Federation.
Background: Periventricular nodular heterotopia (PNH) is a rare pathological condition characterized by the presence of nodules of gray matter located along the lateral ventricles of the brain. The condition typically presents with seizures and other neurological symptoms, and various methods of surgical treatment and postoperative outcomes have been described in the literature.
Case Description: We present a case study of a 17-year-old patient who has been experiencing seizures since the age of 13.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!