[A case of congenital muscular dystrophy associated with hydrocephalus--CSF dynamics and surgical treatment]

Area of Science:

• Neurology
• Pediatrics
• Genetics

Background:

• Fukuyama-type congenital muscular dystrophy (FCMD) is a rare genetic disorder.
• Hydrocephalus is a condition characterized by excess cerebrospinal fluid (CSF) accumulation.
• This case explores the co-occurrence of FCMD and hydrocephalus in a pediatric patient.

Observation:

• A 15-month-old male diagnosed with FCMD at 4 months presented with progressive macrocephaly.
• Brain imaging revealed lissencephaly II, ventricular dilation, and subarachnoid space enlargement, mimicking brain atrophy.
• Intracranial pressure monitoring showed elevated levels and high CSF outflow resistance, indicative of high-pressure hydrocephalus.

Findings:

• The patient's symptoms and physiological parameters improved after ventriculoperitoneal (V-P) shunt placement.
• Post-shunt, improvements included increased cerebral blood flow (CBF) and reduced intracranial pressure and CSF outflow resistance.
• These findings highlight the treatable nature of hydrocephalus superimposed on FCMD.

Implications:

• Early diagnosis and management of hydrocephalus in FCMD patients are crucial for preventing secondary brain injury.
• Intracranial pressure and CSF dynamics monitoring are essential diagnostic tools in such cases.
• This case underscores the importance of a comprehensive approach to managing complex neurological conditions in children.