Related Experiment Video
Updated: Apr 17, 2026
12:28
Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains
Published on: June 3, 2020
18.6K
Niemann-Pick type B in adulthood.
Rita Gonçalves Simões1, Helena Maia1
1Department of Internal Medicine, Centro Hospitalar Entre Douro e Vouga, Santa Maria da Feira, Portugal.
BMJ Case Reports
|February 7, 2015
Summary
Niemann-Pick disease (NPD) type B, a rare sphingomyelin storage disorder, can present in adulthood with splenomegaly and pancytopenia. This case highlights adult survival with supportive care, even after splenic rupture.
Area of Science:
- Genetics and rare diseases
- Lysosomal storage disorders
- Hematology
Background:
- Niemann-Pick disease (NPD) comprises rare autosomal recessive disorders characterized by sphingomyelin accumulation.
- NPD type B is a milder variant, typically with later onset and good adult survival, often without neurological involvement.
Observation:
- A 52-year-old male presented with unexplained pancytopenia and splenomegaly.
- Emergency splenectomy was performed due to pathological splenic rupture, revealing histiocytosis suggestive of lysosomal storage disease.
Findings:
- Niemann-Pick disease (NPD) was confirmed by detecting reduced acid sphingomyelinase activity in leukocytes and fibroblasts.
- The patient exhibited lipid abnormalities and lipid interstitial pneumonia.
Implications:
- This case demonstrates prolonged survival into the sixth decade for NPD type B with supportive management.
- It underscores the importance of considering lysosomal storage diseases in adult-onset hematological abnormalities and the potential for a relatively healthy life despite complications.
Related Concept Videos
01:35Pedigree Analysis
91.6K
Overview
91.6K
01:43Incomplete Dominance
32.9K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
32.9K
01:21Huntington Disease l: Introduction
2
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show...
2
01:22Lysosomal Hydrolases
4.8K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
4.8K
01:20Inborn Errors of Metabolism
1.1K
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
1.1K
03:14Notch Signaling Pathway
6.9K
The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
6.9K