Heterotopic brain tissue, except in the head and neck region, is exceedingly rare. Mature neural tissue unexpectedly found in the subcutaneous tissues of the back of a toddler lacked an attachment to the central nervous system (CNS), and appeared to be unorganized glial tissue on pathologic evaluation. Appropriate clinical management of such lesions includes a suspicion of subcutaneous lesions near the CNS and evaluation to eliminate the presence of communication with the CNS, followed by surgical excision.
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J Med Genet
January 2025
Centres de référence Maladies Rares « Neurogénétique » et « Anomalies du développement », Medical Genetics Departement, CHU de Bordeaux, Bordeaux, France.
Background: loss of function manifests across a broad spectrum of phenotypes, ranging from severe prenatal onset to asymptomatic cases. Bilateral periventricular nodular heterotopia (BPNH) consistently occurs in affected individuals. This retrospective study involving French patients with BPNH evaluates the prevalence of gene dosage anomalies and investigates genotype-phenotype correlations in a large cohort of French patients with BPNH.
View Article and Find Full Text PDFCureus
December 2024
Pediatrics, Unidade Local de Saúde do Algarve-Hospital de Faro, Faro, PRT.
A female adolescent with no relevant past history was admitted to the Pediatric Emergency Department with two episodes of seizures without trauma, fever, or other symptoms. Head-MRI revealed bilateral subependymal nodular irregularities lining the lateral ventricles, with similar signal evolution to grey matter, confirming the diagnosis of periventricular nodular heterotopias (PVNH). Genetic testing revealed a Filamin A ( variant; family studies were negative.
View Article and Find Full Text PDFRadiol 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 PDFEur J Med Genet
December 2024
Department of Neurology & Rehabilitation, Qingdao Women & Children's Hospital, Qingdao University, Qingdao, China. Electronic address:
Lissencephaly (LIS) is a subtype of malformations of cortical development (MCD), characterized by smooth brain surfaces and underdeveloped gyri and sulci. This study investigates the genetic cause of pachygyria in a Chinese male infant diagnosed with the condition, who previously showed no causative variant through trio whole exome sequencing (Trio-WES) and copy number variation sequencing (CNVseq). Whole-genome sequencing (WGS) was conducted, revealing a novel heterozygous inversion spanning 1.
View Article and Find Full Text PDFAm J Med Genet A
December 2024
Constitutional Genetics Laboratory, CHU Amiens Picardie, Amiens, France.
Proteus syndrome (PS) is a rare disorder (< 1/1000000), marked by progressive overgrowth commonly impacting the skeleton, skin, adipose tissue, and central nervous system. Clinical criteria were established in 2019. PS arises from a somatic activating variation in the AKT1 gene.
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