Dandy-Walker malformation in methylmalonic acidemia: a rare case report

Area of Science:

• Medical Genetics
• Metabolic Disorders
• Pediatric Neurology

Background:

• Methylmalonic acidemia is an organic acid metabolism disorder.
• It often presents with non-specific clinical manifestations, making diagnosis challenging.

Observation:

• A 3-month-old infant presented with developmental delay, dyspnea, and severe anemia.
• Brain imaging revealed Dandy-Walker malformation, and metabolic screening confirmed methylmalonic acidemia.

Findings:

• The co-existence of methylmalonic acidemia and Dandy-Walker malformation was observed in this infant.
• Despite intensive treatment, the patient succumbed to a metabolic crisis.

Implications:

• Dandy-Walker malformation may be an unrecognized clinical manifestation of methylmalonic acidemia.
• This case suggests a potential uncharacterized syndrome requiring further investigation.