Niemann-Pick Disease Type A: A Rare Disease With a Fatal Outcome

Abstract

Niemann-Pick disease (NPD) type A is a fatal autosomal recessive lysosomal storage disorder. This rare condition impairs the metabolization of lipids, leading to their accumulation within the cells. Consequently, it causes growth retardation, pancytopenia, and cellular malfunctioning in various organ systems, including ocular, hepatic, pulmonary, brain, and neuronal tissues. Although rare, these patients present in both emergency and outpatient settings. Here, we report the case of a seven-month-old male infant who presented to the emergency department with continuous fever for one week, poor feeding, and failure to thrive. After a thorough history, examination, and laboratory workup, NPD type A was diagnosed. The patient received symptomatic therapy with the continuation of conservative management. In addition, the parents received detailed counseling regarding the genetics, progressive disease course, and prognosis of this condition.

Keywords: foamy histiocytes; lysosomal storage disorder; niemann-pick type a; pancytopenia; rare autosomal recessive disorder.