Gaucher’s Disease in a 2 Years Old Child: A Case Report

Mahayani, Sri Satya; Sidiartha, I Gusti Lanang; Pratiwi, I Gusti Ayu Eka

doi:10.11648/j.ajp.20200603.34

Cited by 2 publications

(1 citation statement)

References 13 publications

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“…Bone marrow aspiration may be performed in patients without a diagnosis accompanied with isolated thrombocytopenia and/or hepatosplenomegaly moreover it can help when Gaucher cells are found. 4 mass per abdomen noticed since 1 month, on the left side, gradually increasing in size. The child was developmentally normal.…”

Section: Introductionmentioning

confidence: 96%

Unexplained hepatosplenomegaly: a storage disorder

Rao

Sreekantham

Pradeep

et al. 2022

Int J Contemp Pediatr

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Gaucher’s disease (GD), a lysosomal storage disorder is caused by defect in the housekeeping gene lysosomal glucocerebrosidase which is present on the first chromosome (1q22). It was first described by a French physician, Philippe Gaucher in 1882. The metabolic defect is the deficiency of the lysosomal hydrolase β-glucosidase, identified by Brady et al. Hereby we reported a 3 year 6-month-old male child presenting with mass per abdomen. Peripheral smear showed bicytopenia and bone marrow aspiration revealed normal erythropoiesis and Gaucher’s cells in a background of normal erythroid, myeloid, and megakaryocytic lineage cells. An impression of lysosomal storage disorder was given and child was evaluated further by genetic analysis. Therefore, we emphasized the importance of early recognition by clinical manifestation and histological findings. The practicing paediatrician should have an index of suspicion for storage disorders as a differential diagnosis of children with unexplained hepatosplenomegaly. Early diagnosis of GD would lead to initiation of effective treatment with enzyme replacement which can decrease morbidity.

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Section: Introductionmentioning

confidence: 96%

Unexplained hepatosplenomegaly: a storage disorder

Rao

Sreekantham

Pradeep

et al. 2022

Int J Contemp Pediatr

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SAME BUT DIFFERENT: GAUCHER DISEASE Rare Cases of Gaucher in Two Siblings with the Same Genotype but Different Phenotype

Aykas,

Kurtoglu,

Gunal

et al. 2023

Preprint

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Gaucher disease is a rare autosomal recessive lysosomal storage disease. More than 400 mutations have been identified. Although the disease has a genotype-phenotype relationship, the presence of cases with different phenotypes in the same genotype and phenotypic heterogeneity is noticeable. In this case report, we present 2 siblings with type 1 Gaucher disease carrying the same homozygous c.1226 A > G allele N370S (now called p.N409S) mutation with completely different phenotypes.

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Gaucher’s Disease in a 2 Years Old Child: A Case Report

Cited by 2 publications

References 13 publications

Unexplained hepatosplenomegaly: a storage disorder

Unexplained hepatosplenomegaly: a storage disorder

SAME BUT DIFFERENT: GAUCHER DISEASE Rare Cases of Gaucher in Two Siblings with the Same Genotype but Different Phenotype

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