[Niemann-Pick type C disease in a child]

Area of Science:

• Neurogenetics
• Lysosomal Storage Diseases
• Pediatric Neurology

Background:

• Niemann-Pick disease type C (NPC) is a rare, autosomal recessive, neurodegenerative lysosomal storage disease.
• It is characterized by progressive psychomotor retardation and neurological deterioration.
• Early diagnosis is crucial for managing this orphan disease.

Observation:

• An 11-year-old female patient presented with symptoms suggestive of late infantile Niemann-Pick disease type C.
• Key clinical signs included psychomotor retardation, diverse neurological symptoms, and isolated splenomegaly.
• The diagnostic process involved clinical evaluation and confirmation via DNA testing using direct automated sequencing.

Findings:

• The patient was diagnosed with Niemann-Pick disease type C.
• Genetic analysis confirmed the diagnosis through direct automated sequencing.
• The patient received treatment with miglustat, a substrate reduction therapy.

Implications:

• This case highlights the importance of recognizing the clinical triad for early Niemann-Pick disease type C diagnosis.
• Miglustat offers a therapeutic option for managing Niemann-Pick disease type C.
• Further research into Niemann-Pick disease type C pathogenesis and treatment is warranted.