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[Niemann-Pick disease, type A: a case report].

Ewa Jamroz¹, Justyna Paprocka, Elzbieta Marszał

¹Klinika Pediatrii i Neurologii Wieku Rozwojowego, Slaska Akademia Medyczna w Katowicach, Katowice.

Neurologia I Neurochirurgia Polska

|June 24, 2006

Summary

Niemann-Pick disease type A, a fatal metabolic disorder caused by acid sphingomyelinase deficiency, affects multiple organs including the brain. This case highlights the rapid, neurodegenerative progression leading to early childhood death.

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Area of Science:

Biochemistry
Genetics
Pediatrics

Background:

Niemann-Pick disease (NPD) type A is an inherited metabolic disorder.
It results from a deficiency in the lysosomal enzyme acid sphingomyelinase (ASM).
Autosomal recessive inheritance pattern.

Observation:

The study presents a case of a 3-year-old boy with Niemann-Pick disease type A.
The patient exhibited a rapidly progressive and fatal course of the illness.
Clinical manifestations included failure to thrive and hepatosplenomegaly.

Findings:

Acid sphingomyelinase (ASM) deficiency leads to Niemann-Pick disease type A.
The disease involves widespread organ dysfunction, particularly affecting the central nervous system.

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Rapid neurodegeneration is a hallmark, causing death by 2-3 years of age.

Implications:

Understanding ASM deficiency is crucial for Niemann-Pick disease type A diagnosis.
Early identification and management strategies are vital for affected children.
Further research into therapeutic interventions for lysosomal storage disorders is warranted.