P0441 / #383: GAUCHER DISEASE TYPE II: A CASE REPORT
نویسندگان
چکیده
منابع مشابه
Type 2 Gaucher Disease: Onset and Evolution – Case Report
Gaucher disease is the most common lysosomal storage disorder, with autosomal recessive transmission. The disease is due to glucocerebrosidase enzyme defi ciency, resulting in accumulation of glucocerebroside in all organs. The diagnosis is established by measuring enzyme activity. Among the clinical forms, type 2 is the rarest and has the most dismal prognosis. We present the case of an infant...
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Pachyonychia congenital (PC) is a rare genodermatosis affecting the nails, skin, oral mucosae, larynx, hair, and teeth. General clinical presentation includes thickening of finger and toenails, painful plantar keratoderma, hyperhidrosis, oral leukokeratosis, follicular keratosis, palmar keratoderma, cutaneous cysts, hoarseness, twisted hair and prenatal or natal teeth. Clinically, PC is d...
متن کاملreplacement therapy for gaucher disease during pregnancy: a case report
background: gaucher disease is a lysosomal storage disorder due to deficiency of glucocerebrosidase enzyme. in this study, a case of enzyme-treated woman during her pregnancy was reported. case presentation: a 27-year old woman with type i gaucher disease was managed for pregnancy until delivery. she underwent elective splenectomy at age 26 years and was treated with 19-38 units/kg of imiglucer...
متن کاملGaucher disease with jawbone involvement: a case report
INTRODUCTION Gaucher disease is an autosomal recessive systemic condition, and the most common of the lysosomal storage disorders. It is characterized by lipid accumulation in certain cells and organs, particularly macrophages, which appear on light microscopy as 'Gaucher cells' or vacuolated lipid-laden reticuloendothelial cells. Long bone involvement is common in Gaucher disease, whereas cran...
متن کاملReplacement Therapy for Gaucher Disease during Pregnancy: A Case Report
BACKGROUND Gaucher disease is a lysosomal storage disorder due to deficiency of glucocerebrosidase enzyme. In this study, a case of enzyme-treated woman during her pregnancy was reported. CASE PRESENTATION A 27-year old woman with type I Gaucher disease was managed for pregnancy until delivery. She underwent elective splenectomy at age 26 years and was treated with 19-38 units/kg of imiglucer...
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ژورنال
عنوان ژورنال: Pediatric Critical Care Medicine
سال: 2021
ISSN: 1529-7535
DOI: 10.1097/01.pcc.0000740104.72412.28