Niemann-Pick type A disease with new mutation: a case report Article Swipe
Fatemeh Aghamahdi
,
Matineh Nirouei
,
Shahram Savad
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1186/s13256-022-03486-5
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1186/s13256-022-03486-5
Background Niemann-Pick type A (NP-A) is a congenital, hereditary disease caused by a deficiency in acid sphingomyelinase, a lysosomal enzyme. This deficiency results in an accumulation of sphingomyelin in lysosomes, leading to cellular apoptosis and ultimately to hepatosplenomegaly, neurodegenerative disorder and failure to thrive. Cherry-red spots in the macula and foamy cells in the bone marrow are other manifestations of the disease that help with diagnosis. Type A is a rare, untreatable disease with early manifestations and a poor prognosis, with newborns rarely surviving for 2–3 years. Case presentation A 1-year-old Persian boy was referred to our clinic due to abdominal distention and poor weight gain. He was the first male offspring of consanguineous parents. Other findings were neurodevelopmental delay, hepatosplenomegaly, severe hypotonia, difficulty in breathing, and a slightly coarse face with an open mouth and protruding tongue. The initial diagnosis was clinical mucopolysaccharidosis (MPS) based on the coarse facial features, but further workup ruled out this inherited disorder. Enzyme histochemistry revealed that the level of acid sphingomyelinase was lower than normal. In the genetic study, next-generation sequencing of all coding exons and flanking intronic regions of the patient’s DNA demonstrated a homozygous c.682T>G variant in the SMPD1 gene. This variant was classified as a variant of unknown significance. Further evaluation of DNA extract from his parents and examined using Sanger sequencing showed a heterozygous c.682T>G variant in the SMPD1 gene of both parents. Conclusions We describe a 1-year-old boy with neurodevelopmental delay, hepatosplenomegaly, and severe hypotonia. Further investigation demonstrated a new mutation for Niemann-Pick disease.
Related Topics
Concepts
Hepatosplenomegaly
Medicine
Failure to thrive
Sanger sequencing
Enzyme replacement therapy
Compound heterozygosity
Lysosomal storage disease
Missense mutation
Niemann–Pick disease
Pediatrics
DNMT3B
Acid sphingomyelinase
Disease
Pathology
Internal medicine
Allele
Genetics
Mutation
Biology
Gene
Sphingomyelin
Methyltransferase
Cholesterol
Methylation
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1186/s13256-022-03486-5
- https://jmedicalcasereports.biomedcentral.com/counter/pdf/10.1186/s13256-022-03486-5
- OA Status
- gold
- Cited By
- 4
- References
- 14
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4288177367
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4288177367Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1186/s13256-022-03486-5Digital Object Identifier
- Title
-
Niemann-Pick type A disease with new mutation: a case reportWork title
- Type
-
articleOpenAlex work type
- Language
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enPrimary language
- Publication year
-
2022Year of publication
- Publication date
-
2022-07-27Full publication date if available
- Authors
-
Fatemeh Aghamahdi, Matineh Nirouei, Shahram SavadList of authors in order
- Landing page
-
https://doi.org/10.1186/s13256-022-03486-5Publisher landing page
- PDF URL
-
https://jmedicalcasereports.biomedcentral.com/counter/pdf/10.1186/s13256-022-03486-5Direct link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
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https://jmedicalcasereports.biomedcentral.com/counter/pdf/10.1186/s13256-022-03486-5Direct OA link when available
- Concepts
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Hepatosplenomegaly, Medicine, Failure to thrive, Sanger sequencing, Enzyme replacement therapy, Compound heterozygosity, Lysosomal storage disease, Missense mutation, Niemann–Pick disease, Pediatrics, DNMT3B, Acid sphingomyelinase, Disease, Pathology, Internal medicine, Allele, Genetics, Mutation, Biology, Gene, Sphingomyelin, Methyltransferase, Cholesterol, MethylationTop concepts (fields/topics) attached by OpenAlex
- Cited by
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4Total citation count in OpenAlex
- Citations by year (recent)
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2025: 2, 2024: 1, 2023: 1Per-year citation counts (last 5 years)
- References (count)
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14Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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