Massive perinatal intracranial hemorrhage as a rare initial presentation of Fukuyama congenital muscular dystrophy: a case report

Background Fukuyama congenital muscular dystrophy (FCMD) is a childhood-onset muscular dystrophy characterized by generalized muscle weakness and brain abnormalities. Typical brain MRI findings include cortical polymicrogyria and pachygyria, cerebellar cortical dysplasia and cerebellar cysts, and pontine hypoplasia. Case presentation We report a neonate with FCMD who presented with hand myoclonus and was subsequently found to have extensive intracranial hemorrhage on neuroimaging. CT and MRI revealed bilateral frontal parenchymal, intraventricular, tentorial subdural, and subarachnoid hemorrhage. Elevated creatine kinase levels on day 15 prompted evaluation for differential diagnoses associated with hyperCKemia, and genetic testing identified a pathogenic homozygous variant in the FKTN gene, confirming the diagnosis of FCMD. Conclusion This case underscores the rarity of widespread intracranial hemorrhage in FCMD and highlights the importance of recognizing this atypical manifestation to facilitate prompt and accurate diagnosis.