Case Study on Type A Niemann Pick Disease

Seshadri, Sriram; Ahmed, Jaleel; Saminathan, Saranya; Annie, Sweatha; Raj, Silpa

doi:10.9790/3008-1104033638

Cited by 2 publications

(3 citation statements)

References 1 publication

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although no definative treatment available till now, only supportive treatment is offered, early diagnosis and management of complications can improve life expectancy. 8 Bone marrow aspiration examination, Liver biopsy, Splenic aspiration cytology are helpful investigations to establish the diagnosis of Niemann pick disease.…”

Section: Resultsmentioning

confidence: 99%

Niemann-pick disease type A-a case report

et al. 2017

View full text Add to dashboard Cite

Niemann-Pick Disease is an autosomal recessive disorder of infancy, characterized by failure to thrive, hepatosplenomegaly and neurodegenerative changes. It is caused by inherited deficiency of an enzyme, acid sphingomyelinase. It leads to deposition of sphingomyelin and cholesterol within the lysosome of reticuloendothelial cells of various organs. Niemann-Pick Disease is classified into four types such as A, B, C and D. We present a case of niemann-pick disease type A. This case report encompasses an 18-month-old male child brought with complaints of progressive abdominal distension, developmental delay, intermittent fever and excessive cry. On examination patient had developmental delay and significant abdominal distension with moderate hepatosplenomegaly. Bone marrow examination showed characteristic lipid laden foamy histiocytes termed as niemann pick cells and sea blue histiocytes. Later on, liver biopsy and splenic aspiration cytology was performed, which also showed same type of foamy cells. Type A is very rare and a severe infantile form with neurologic degeneration resulting in death usually by 3 years of age. No treatment available for type A so far. It’s a rare disease in India. Genetic counseling.

show abstract

Section: Resultsmentioning

confidence: 99%

Niemann-pick disease type A-a case report

et al. 2017

View full text Add to dashboard Cite

show abstract

“…In NPD type A death usually occurs by 3 years of age. 9 Type B NPD often presents in mid-childhood. The clinical features are similar to that of type A but less severe with additional short stature and delayed bone age.…”

Section: The Casementioning

confidence: 99%

“…The survival rate in type B is usually up to late adulthood. 9 NPD type C often presents with prolonged neonatal jaundice and may remain normal for the first 1-2 year of life ultimately leading to slowly progressive and variable neurodegenerative course. Hepatosplenomegaly is less common and these patients may survive into adulthood.…”

Section: The Casementioning

confidence: 99%

Niemann Pick Disease: A Case Report

Khan

Jolly

Baki

et al. 2022

J. Bangladesh Coll. Phys.

View full text Add to dashboard Cite

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

show abstract

Case Study on Type A Niemann Pick Disease

Cited by 2 publications

References 1 publication

Niemann-pick disease type A-a case report

Niemann-pick disease type A-a case report

Niemann Pick Disease: A Case Report

Contact Info

Product

Resources

About