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Infantile Acid Sphingomyelinase Deficiency Presenting With Severe Gastrointestinal and Recurrent Respiratory Symptoms: A Diagnostic Challenge Case Report in Palestine

2026-03-12

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> Acid sphingomyelinase deficiency (ASMD), encompassing Niemann–Pick disease types A and B, is a rare autosomal recessive lysosomal storage disorder. Infantile ASMD (type A) typically presents with progressive neurovisceral involvement. However, early manifestations may be nonspecific, leading to delayed diagnosis. We report an unusual presentation of infantile...

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Literature Corpus work: 7c02f1d1-8981-517a-8636-5ffd27022692
DOI: 10.21203/rs.3.rs-8751839/v1

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