An Autopsy Case of Niemann‐pick Disease

Kawai, Kioko; Tsuchiyama, Hideo; Tabata, Kimiko

doi:10.1111/j.1440-1827.1973.tb02779.x

Cited by 3 publications

(6 citation statements)

References 16 publications

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“…Renal involvement in ASMD has been reported in a few cases only. [11][12][13][14][15] These patients were young, representing severe phenotypes of ASMD with extensive manifestations at a young age, opposed to our patient who has the chronic visceral phenotype with an attenuated course of disease. In three out of four cases, findings of lipid accumulation in the kidneys were established postmortem without a clinical history of kidney injury.…”

Section: Discussionmentioning

confidence: 59%

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Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease

et al. 2021

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Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease (LSD) in which sphingomyelin accumulates due to deficient acid sphingomyelinase. In the chronic visceral subtype, organ manifestations are generally limited to the spleen, liver, and lungs. We report a male patient with the chronic visceral subtype who developed proteinuria and renal insufficiency at the age of 49. In renal tissue, foam cells were observed in the glomeruli as well as sphingomyelin accumulation within podocytes, mesangial cells, endothelial cells, and tubular epithelial cells. Although macrophages are the primary storage cells in both ASMD and Gaucher disease, comparison to the histopathological findings in Gaucher and Fabry disease revealed a diffuse storage pattern in multiple renal cell types, closer resembling the pattern found in Fabry disease.

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Section: Discussionmentioning

confidence: 59%

“…Renal involvement in patients with ASMD is unusual and has rarely been reported, mainly as a coincidental finding during postmortem pathology studies. [11][12][13][14][15] Here, we describe a patient who showed progressive proteinuria and decline of renal function, with signs of lysosomal storage as the most likely culprit.…”

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confidence: 94%

Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease

et al. 2021

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“…There are very few comprehensive clinicopathologic case reports on infantile neurovisceral ASMD (ASMD type A, NPD A) in the recent literature [ 8 , 9 ]. Natural history studies [ 10 ] describe a pattern of disease progression, often beginning with detection of organomegaly.…”

Section: Discussionmentioning

confidence: 99%

Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report

Thurberg

2020

Molecular Genetics and Metabolism Reports

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Acid sphingomyelinase deficiency (ASMD; also known as Niemann-Pick Disease [NPD] A and B) is a rare lysosomal storage disease characterized by the pathological accumulation of sphingomyelin within multiple cell types throughout the body. The infantile neurovisceral (ASMD type A, also known as Niemann-Pick Disease type A) form of the disease is characterized by markedly low or absent enzyme levels resulting in both visceral and severe neurodegenerative involvement with death in early childhood. We report here the clinical course and autopsy findings in the case of a 3 year old male patient with infantile neurovisceral ASMD. A comprehensive examination of the autopsy tissue was conducted, including routine paraffin processing and staining, high resolution light microscopy and staining for sphingomyelin, and ultrastructural examination by electron microscopy. Profound sphingomyelin accumulation was present in virtually every organ and cell type. We report the clinicopathologic correlations of these findings and discuss the relevance of these results to the clinical practice of physicians following all patients with ASMD. This case represents one of the most extensive and detailed examinations of ASMD type A to date.

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“…To our knowledge, only 12 NPD type B patients with early pulmonary involvement during childhood were previously reported (Table 1). 3,5,[8][9][10][11][12][13][14] A characteristic microscopic feature of lungs in NPD is an infiltration of lipid-storing foam histiocytes, usually seen within the alveoli, alveolar walls, and lymphatic interiobular and subpleural spaces, while the pulmonary architecture remains normal. 15 A lung biopsy of our patient showed foamy macrophages filling the distended airways, and mononuclear inflammation in the interstitial area.…”

Section: Discussionmentioning

confidence: 99%

“…More effective therapeutic options should be studied for NPD. Acid sphingomyelinase knockout mice can be used Kawai et al 9 2 years SOB stridor BM biopsy Hammersen et al 10 2 years Bronchopneumonia BM biopsy 8 months Bronchopneumonia BM biopsy Pavone et al 11 2 years Recurrent pulmonary infection, abnormal CXR…”

Section: Discussionmentioning

confidence: 99%

Early pulmonary involvement in Niemann‐Pick type B disease: Lung lavage is not useful

Uyan

Karadağ

Ersu

et al. 2005

Pediatric Pulmonology

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Niemann-Pick disease (NPD) is a rare, autosomal-recessively inherited lipid storage disease which is characterized by intracellular deposition of sphingomyelin in various body tissues. The disease is heterogeneous and classified into six groups. Pulmonary parenchymal involvement may be a feature of several subtypes of NPD, including type B. Progressive pulmonary involvement in NPD type B is a major cause of morbidity and mortality. It is usually diagnosed at older ages. Only a few cases with early pulmonary involvement have been reported. In this report, a patient with NPD type B, hospitalized with the diagnosis of pneumonia at age 3 months, is presented. Following treatment for pneumonia, she continued to have persistent respiratory symptoms and became oxygen-dependent. High-resolution computed tomography of the chest revealed diffuse interstitial changes. During follow-up, the patient developed hepatosplenomegaly. Lung, liver, and bone marrow biopsies showed characteristic findings for NPD. Biochemical studies also confirmed the diagnosis, and the sphingomyelinase enzyme level of the patient was low. Unilateral lung lavage was performed in order to decrease lipid storage as a treatment modality. However, there was no clinical or radiological improvement. The patient died at age 15 months due to progressive respiratory failure. Pulmonary involvement is a rare entity in early childhood in patients with NPD type B, but should be considered in the differential diagnosis of persistent interstitial lung disease. It may cause progressive respiratory failure, but the treatment options remain limited.

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An Autopsy Case of Niemann‐pick Disease

Cited by 3 publications

References 16 publications

Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease

Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease

Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report

Early pulmonary involvement in Niemann‐Pick type B disease: Lung lavage is not useful

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