A Rare Case of Infantile Gaucher Disease-A Case Report

Devi, Kunamalla Rama; Rajayalakshmi, S.; Sundari, T.; Kumar, O. Shravan; Rao, Jia

doi:10.5958/2347-6206.2015.00024.2

Cited by 1 publication

(4 citation statements)

References 20 publications

(26 reference statements)

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“…Prenatal diagnosis was done by examining cultured amniocentesis for this b-glucosidase activity or amniocentesis or chorionic villus DNA for mutations. In pathology slides of our case, Cytoplasm seems wrinkled, bulbous shape, striated, and like clumped paper and presence of Gaucher attributed cells supported our detection [5]. Also, after confirming our diagnosis, the patient was treated with enzyme replacement, and other protective actions, including blood transfusion, and antibiotic therapy were done for her, and overall health of her improved and returned to a suitable growth and weight.…”

Section: Discussionsupporting

confidence: 82%

“…Gaucher disease is one of lysosomal storage diseases, which is considered as rare and genetic diseases.The glucocerebroside laden enlarged RE cells with eccentrically placed nucleus are called Gaucher's cells its accumulation in many organs causes organomegally with dysfunction and also replacing bone marrow by cytopenias [5,6]. The relative shortage of beta-glucosidase enzyme acid (glucocerebrosidase) results in type I of this disease with no clinical demonstrations of the nervous system and sever defect of the enzyme causes serious forms of the disease, i.e.…”

Section: Discussionmentioning

confidence: 99%

“…Its treatment includes replacing Glucocerebrosidase enzyme, which partially can help patients' recovery. Bone marrow transplant, in some cases of these patients can be effective, too [5]. The definitive diagnosis was established by determining leukocyte or cultured fibroblast [10], b-glucosidase activity or by demonstrating mutations in the patients DNA [5].…”

Section: Discussionmentioning

confidence: 99%

“…Bone marrow transplant, in some cases of these patients can be effective, too [5]. The definitive diagnosis was established by determining leukocyte or cultured fibroblast [10], b-glucosidase activity or by demonstrating mutations in the patients DNA [5]. Prenatal diagnosis was done by examining cultured amniocentesis for this b-glucosidase activity or amniocentesis or chorionic villus DNA for mutations.…”

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

Foot Involvement - A Presenting Feature for Gaucher Disease, A Case Report

Shahverdi¹,

Khani²,

Beiraghdar³

et al. 2016

Foc Sci

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Introduction: Gaucher disease is one of recessive autosomal diseases, wide range of childhood diseases to the absence of symptoms throughout its life. That three types of is more common than other types, that comprises a wide range of clinical findings in childhood and may be seen in different parts of the body but Long bone involvement is common in Gaucher disease. Case Presentation: In this paper, 11-month-old baby girl suddenly lost the ability to walk and her loss of appetite, night sweats, severe irritability and weight reduction, Her parents were healthy and there was not a history of any special disease in both families and She hasn't had a history of previous hospitalization, so using different tests and biopsies the Gaucher disease was diagnosed. Conclusions: Careful consideration of signs and symptoms and medical history, with a thorough review of systems, is important when evaluating patients with lysosomal storage disorders. Signs such as splenomegaly, anemia, thrombocytopenia and developmental delay can be signs of Gaucher disease, so the presence of these signs should be investigated.

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Section: Discussionsupporting

confidence: 82%

Section: Discussionmentioning

confidence: 99%