Pulmonary involvement in an adult male affected by type B Niemann-Pick disease

Abstract

We report the case of a 39-year-old male patient affected by type B Niemann-Pick disease, in whom pulmonary involvement became evident 15 years after the initial diagnosis. Pulmonary involvement was discovered incidentally during the evaluation of a dry cough and exertional dyspnoea which occurred in the context of an acute febrile, self-limiting illness. In this case, the pulmonary involvement is clinically mild, with minimal alteration of the diffusing capacity for carbon monoxide (DL(CO)), despite moderate fibrosis and widespread infiltration of both alveoli and interstitium by sea blue histiocytes.

Lung disease in niemann–pick disease

“…Corresponding to other interstitial lung disease, the most characteristic finding is the decrease of the lung compliance and TLCO in the older patients. [14][15][16][17]19,31 We acknowledge the limitations of our study. The study design and scope did not permit conclusions about the prevalence of NP lung disease.…”

“…[14][15][16][17] When present, respiratory symptoms are mild with recurrent cough and moderate dyspnea on exertion. 18,19 Progression of lung disease is slow but inexorable, due to the accumulation of ASM in lung cells. 20 However, two cases of rapidly fatal lung disease have been reported several decades ago.…”

“…The infiltrates involve the alveolar spaces and walls and sometimes the interlobular lymphatics, the sub-pleural spaces and the peribronchi. 17,19,29,30 The pulmonary architecture is constantly preserved in humans and in animal models. 20,[31][32][33][34] Inflammation and fibrosis are usually absent in NPD, as observed in our patients except for patient no.…”

Different features of lung involvement in Niemann-Pick disease and Gaucher disease

“…Lung involvement is typically asymptomatic and is observed primarily in adult patients following evaluation of mild respiratory system complaints. 7e10 Respiratory system involvement in such patients is variable; some patients exhibit mild respiratory symptoms such as recurrent cough 11 ; however, severe and fatal lung disease is also reported. In series of McGovern et al, shortness of breath and pulmonary infections are two frequent symptoms (42% each).…”

A Case of a Korean Adult Affected by Type B Niemann-Pick Disease: Secondary Sea-blue Histiocytosis and Molecular Characterization

“…•채정돈 1 •이원미 2 •우정주 3 •이홍복 4 •공수정 4 •박찬정 5 •김구환 6 •유한욱 6,7 을지의대 을지병원 진단검사의학과 Niemann-Pick disease (NPD) is an inherited metabolic disorder caused by a deficiency of the enzyme acid sphingomyelinase coded by SMPD1 gene. In contrast with type A NPD, a severe neurodegenerative disease of infancy, type B NPD patients have little or no neurodegeneration, and frequently survive into adulthood.…”