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

Cureus. 2022 Feb 6;14(2):e21955. doi: 10.7759/cureus.21955.

PMID: 35282558

Khadija Qureshi, Zahraa Ghasan Abdulmajeed, Shoaib Saleem

Highlights: This article reports 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.

Abstract

Background: A fatal form of autosomal recessive lysosomal storage disorder is Niemann-Pick disease (NPD) type A. This uncommon disorder affects how lipids are metabolized, causing an accumulation of lipids inside of cells. As a result, it impairs cellular function in a number of organ systems, including the ocular, hepatic, pulmonary, brain, and neural tissues, and causes growth retardation, pancytopenia, and cellular dysfunction. These patients may show up in both emergency and outpatient settings.

Results and conclusion: This study describes the case of a male infant aged seven months who visited the emergency room with a week-long fever, poor eating, and failure to thrive. NPD type A was identified after a complete history, examination, and laboratory workup. The patient continued to get conservative management while still receiving symptomatic treatment. The parents also received thorough counseling about the genetics, chronic disease course, and prognosis of this disorder.

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