Abstract:Lysosomal storage disorders (LSDs) collectively constitute a significant public health burden in developing countries. Commoner LSDs include Gaucher, Fabry, and Niemann-Pick disease (NPD), but many cases remain undiagnosed. With the high incidence of consanguineous marriages, South East Asian countries are expected to have high prevalence of these LSDs. Here we report 4 cases of NPD type A/B in 3 families presenting with hepatosplenomegaly and cytopenias including one family with two sibs having hypertension a… Show more
“…These morphologic findings were consistent with the patient's ECG study suggestive of left ventricular hypertrophy. While we did not have the opportunity to examine the pathology of the patient's heart valves, it is worth mentioning that the tricuspid and mitral valve regurgitation observed here in the echocardiogram study at age 21 months has been observed by others reported in the ASMD literature [ 4 ], suggesting that there may be a link between the findings and disease-related substrate accumulation. Fig.…”
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.
“…These morphologic findings were consistent with the patient's ECG study suggestive of left ventricular hypertrophy. While we did not have the opportunity to examine the pathology of the patient's heart valves, it is worth mentioning that the tricuspid and mitral valve regurgitation observed here in the echocardiogram study at age 21 months has been observed by others reported in the ASMD literature [ 4 ], suggesting that there may be a link between the findings and disease-related substrate accumulation. Fig.…”
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.
“…These nanocarriers are capable of forming complexes with cholesterol which in turn slows the progress of the disease. Many researchers are studying the various forms of these compounds in their use to address this pathology [ 11 ].…”
Section: Discussionmentioning
confidence: 99%
“…Various reviews and reports consequently appear to be in consensus that further research is needed from which an appropriate conclusion can be drawn for potential therapies and diagnostic methods [ 10 , 11 ]. This case report shall seek to highlight the case presentations of this rare disease so that the issue of under-diagnosis can be more readily addressed [ 11 ].…”
Section: Introductionmentioning
confidence: 99%
“…Various reviews and reports consequently appear to be in consensus that further research is needed from which an appropriate conclusion can be drawn for potential therapies and diagnostic methods [ 10 , 11 ]. This case report shall seek to highlight the case presentations of this rare disease so that the issue of under-diagnosis can be more readily addressed [ 11 ]. This elaboration of data shall contribute and encourage the discovery of clinical findings for future investigations as efforts are made to better understand this disease.…”
Niemann-Pick disease has an autosomal recessive inheritance pattern and occurs due to a deficiency of a lysosomal enzyme, sphingomyelinase. It causes variable clinical signs and symptoms such as hepatosplenomegaly, delayed milestones, and peripheral cytopenia due to bone marrow involvement. Here, we report a case of a child who presented with hepatosplenomegaly and pancytopenia, who was later found to have Niemann-Pick disease on bone marrow examination. This case highlights the case presentations of this rare disease and the importance of bone marrow trephine in prompt diagnosis and management of a patient.
“…Types A and B result from the deficient activity of sphingomyelinase and the SMPD1 gene located on bands 11p15.1-p15.4 and are referred to as acid sphingomyelinase deficiency (ASMD). 8 Type C is a neuronopathic form that results from defective cholesterol transport. 1 The most common form of Niemann pick disease is Type A, i.e., Acute neuropathic form which presents in the first months of life with marked hepatosplenomegaly, lymphadenopathy and psychomotor retardation, followed by neurodevelopmental regression.…”
Niemann Pick disease is a rare lysosomal storage disease of infancy which occurs due to accumulation of sphingomyelin in various tissues of the body. This leads to characteristic features of failure to thrive, marked organomegaly and neurodegenerative regression. The disease is uncommon in South East Asia and here we present this case as it is rarely found in Bangladesh.
J Bangladesh Coll Phys Surg 2022; 40: 209-212
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