Gaucher’s Disease Presenting with Massive Hepatic Fibrosis and Skeletal Abnormalities: A Case Report with Review of the Literature

2011 ◽  
Vol 31 (3) ◽  
pp. 752-758
Author(s):  
Kendal YALÇIN ◽  
Feyzullah UÇMAK ◽  
Remzi BEŞTAŞ ◽  
Hakan Ümit ÜNAL ◽  
Serdar NECMİOĞLU ◽  
...  
Keyword(s):  
Case Report ◽  
Hepatic Fibrosis ◽  
Review Of The Literature ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Skeletal Abnormalities

scholarly journals Gaucher's Disease - A Case of Huge Hepatosplenomegaly Clinically Confused with Kala Azar: Case Report and Review of the Literature

1970 ◽  
Vol 24 (2) ◽  
pp. 25-33
Author(s):  
Md Sirazul Islam ◽  
ABM Sarwar-e-Alam ◽  
Faruq Ahmad
Keyword(s):  
Case Report ◽  
Key Words ◽  
Review Of The Literature ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Kala Azar

Key words: Hepatosplenomegaly; kala azar; Gaucher's diseaseDOI: 10.3329/bjpath.v24i2.4115Bangladesh J Pathol 24(2): 25-33

scholarly journals Hemorrhagic bursitis and bone crises in chronic adult gaucher's disease: a case report

1982 ◽  
Vol 25 (11) ◽  
pp. 1369-1373 ◽  
Author(s):  
Gilbert Gelfand ◽  
Harry Bienenstock
Keyword(s):  
Case Report ◽  
Gaucher's Disease ◽  
Gaucher’S Disease

Adult-onset neuronopathic form of Gaucher's disease: a case report

2003 ◽  
Vol 9 (5) ◽  
pp. 261-264 ◽  
Author(s):  
J. Guimarães ◽  
O. Amaral ◽  
M.C. Sá Miranda
Keyword(s):  
Case Report ◽  
Adult Onset ◽  
Gaucher's Disease ◽  
Gaucher’S Disease

Gaucher's disease: Case report of mandibular trauma

1992 ◽  
Vol 73 (1) ◽  
pp. 23-26 ◽  
Author(s):  
Glenn R. Regenye ◽  
Bruce A. Huberman ◽  
Allen B. Itkin
Keyword(s):  
Case Report ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Disease Case

scholarly journals Early Diagnosis of an Infant with Gaucher's Disease Type 3. Case Report

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 4950-4950
Author(s):  
Adriana C. Bello ◽  
Rossana Cortez
Keyword(s):  
Case Report ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Disease Type ◽  
Red Blood Cell Transfusion ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Enzyme Replacement ◽  
Transfusion Requirements ◽  
Type 3

Abstract Background Gaucher's disease is a rare autosomal recessive disorder that results from the deficiency of the enzyme glucocerebrosidase, causing deposition of glucocerebroside in cells of the macrophage-monocyte system. Type 3 disease has varied presentations, with neurologic involvement, in addition to progressive hepato-splenomegaly, anemia, thrombocytopenia and skeletal manifestations. Case Report 2 month old infant girl, was noted to have abdominal enlargement, and was taken to the local rural provider. She was referred to a pediatrician. From there, she was transferred to our institution, after a red blood cell transfusion. Past history is noteworthy for early passage of a first degree cousin, at the age of 3 months, with hepatosplenomegaly and transfusion requirements. Parents deny consanguinity. However, they live in a very rural, closed population. A detailed pedigree chart was not obtained. Physical exam revealed an infant in regular overall conditions, grade IV hepatosplenomegaly. Pale, fussy, hyporexic, with mild breathing difficulty, from enlarged abdomen. She had oculomotor apraxia, at the horizontal gaze. Rest of neurological examination was uneventful. Dry blood sample was obtained and sent to a specialized laboratory (Greenwood Genetic Center, USA). Bone marrow biopsy showed almost total replacement of normal hematopoiesis, with Gaucher cells. Beta glucosidase activity was low. GBA gene sequencing, at chromosome 1q21-22, revealed homozygous pL483p mutation, on exon 11. She was 5 months old, when diagnosis of Gaucher's disease type 3, was genetically confirmed. Imiglucerase was initiated, biweekly, at 60 unit/kg. Dose was increased, on a monthly basis, up to 120 unit/kg. Ambroxol was also started, as a chaperone therapy 15mg/kg/d, as per recent literature (Narita et al, Ann Clin Transl Neurol 2016 Feb 2;3(3):200-15), providing increased glucocerebrosidase activity, in the cerebrospinal fluid, with improvement of neurologic symptoms. Blood counts, including platelets, normalized shortly after starting enzyme replacement therapy. Neurologic milestones, growth and constitutional features, are adequate for age. Hepatosplenomegaly has decreased with ongoing therapy, and we expect it will continue to ultimately improve, with treatment. She is now 14 months old. Conclusion Gaucher's disease is a rare condition that should be considered in an infant with hepato-splenomegaly and low blood counts, and or bleeding manifestations. Gold standard for diagnosis should be sought by the enzyme measurement, and molecular confirmation. Enzyme replacement therapy is the therapy of choice, in these patients. Figure. Figure. Disclosures No relevant conflicts of interest to declare.

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