Literature DB >> 25859481

Type 1 and type 3 Gaucher disease in two siblings in a family: 2 unusual case reports.

Dolanchampa Modak1, Sasmit Roy2, Uttam Nath3, S K Guha4.   

Abstract

Gaucher disease (GD) is an autosomal recessive disorder, characterized by lack of acid β-glucosidase (glucocerebrosidase) enzyme resulting in accumulation of glucosylceramide in different organs. It is common in Ashkenazi Jews but rare in India. Around five hundred cases are identified and diagnosed in India. We are reporting two interesting cases of type 1 non-neuropathic and type 3 juvenile subacute neuropathic variant of adult Gaucher disease in two of three siblings in a family.

Entities:  

Keywords:  Gaucher disease; Glucocerebrosidase; Lysosomal storage disorder; Sibling

Year:  2015        PMID: 25859481      PMCID: PMC4378763          DOI: 10.7860/JCDR/2015/8493.5507

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  5 in total

1.  Gaucher's disease among Mappila Muslims of Malabar.

Authors:  M Feroze; K P Arvindan; L Jose
Journal:  Indian J Pathol Microbiol       Date:  1994-07       Impact factor: 0.740

2.  Partial splenectomy in Gaucher's disease.

Authors:  M Rubin; I Yampolski; R Lambrozo; R Zaizov; M Dintsman
Journal:  J Pediatr Surg       Date:  1986-02       Impact factor: 2.545

3.  Twin pairs showing discordance of phenotype in adult Gaucher's disease.

Authors:  R H Lachmann; I R Grant; D Halsall; T M Cox
Journal:  QJM       Date:  2004-04

4.  Splenomegaly, cardiomegaly, and osteoporosis in a child with Gaucher disease.

Authors:  J J Sheth; C M Ankleshwaria; M A Mistri; N Nanavaty; S J Mehta
Journal:  Case Rep Pediatr       Date:  2011-09-29

5.  An unusual case of massive hepatosplenomegaly.

Authors:  Amitabh Sagar; Abhishek Pathak; Vijay Bohra; Velu Nair
Journal:  Indian J Endocrinol Metab       Date:  2013-01
  5 in total
  1 in total

1.  Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease.

Authors:  Giulia Perucca; Bruno P Soares; Serena Staglianò; James Davison; Anupam Chakrapani; Felice D'Arco
Journal:  Neuroradiology       Date:  2018-10-17       Impact factor: 2.804

  1 in total

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