A case report of A-Beta Lipoproteinemia

Objective: A-beta lipoproteinemia is a genetic disease with recessive autosomal inheritance beginning with digestive symptoms like diarrhea and malabsorption and progressing with growth impairments in patient’s appearance. Early diagnosis and treatment remarkably reduces neurologic and eye disorders...

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Autor principal: F Farahmand
Formato: article
Lenguaje:EN
FA
Publicado: Babol University of Medical Sciences 2000
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Acceso en línea:https://doaj.org/article/0ba66fc56e754c34aac59210495e5c97
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spelling oai:doaj.org-article:0ba66fc56e754c34aac59210495e5c972021-11-10T09:22:08ZA case report of A-Beta Lipoproteinemia1561-41072251-7170https://doaj.org/article/0ba66fc56e754c34aac59210495e5c972000-04-01T00:00:00Zhttp://jbums.org/article-1-2914-en.htmlhttps://doaj.org/toc/1561-4107https://doaj.org/toc/2251-7170Objective: A-beta lipoproteinemia is a genetic disease with recessive autosomal inheritance beginning with digestive symptoms like diarrhea and malabsorption and progressing with growth impairments in patient’s appearance. Early diagnosis and treatment remarkably reduces neurologic and eye disorders. Case: A 7-month baby was admitted to digestive disease unit of children medical center for his growth impairment. During infancy he had digestive symptoms and after 5 years of age developed neurologic and ophthalmic symptoms (Disorders) with reduced triglycerides and cholesterol levels in serum. Severe acanthocytosis was detected in his peripheral blood smears. Conclusion: Diagnosis was based on clinical manifestations, special histopathologic changes of duodenum and acanthocytosis of peripheral blood smear. Early diagnosis and proper treatment of A-beta lipoproteinemia relieves gastrointestinal disorders and neurologic symptoms. Meanwhile it prevents early death of the patients.F FarahmandBabol University of Medical Sciencesarticlea-beta lipoproteinemiaacanthocytosischolesterol levelsMedicineRMedicine (General)R5-920ENFAMajallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, Vol 2, Iss 2, Pp 57-59 (2000)
institution DOAJ
collection DOAJ
language EN
FA
topic a-beta lipoproteinemia
acanthocytosis
cholesterol levels
Medicine
R
Medicine (General)
R5-920
spellingShingle a-beta lipoproteinemia
acanthocytosis
cholesterol levels
Medicine
R
Medicine (General)
R5-920
F Farahmand
A case report of A-Beta Lipoproteinemia
description Objective: A-beta lipoproteinemia is a genetic disease with recessive autosomal inheritance beginning with digestive symptoms like diarrhea and malabsorption and progressing with growth impairments in patient’s appearance. Early diagnosis and treatment remarkably reduces neurologic and eye disorders. Case: A 7-month baby was admitted to digestive disease unit of children medical center for his growth impairment. During infancy he had digestive symptoms and after 5 years of age developed neurologic and ophthalmic symptoms (Disorders) with reduced triglycerides and cholesterol levels in serum. Severe acanthocytosis was detected in his peripheral blood smears. Conclusion: Diagnosis was based on clinical manifestations, special histopathologic changes of duodenum and acanthocytosis of peripheral blood smear. Early diagnosis and proper treatment of A-beta lipoproteinemia relieves gastrointestinal disorders and neurologic symptoms. Meanwhile it prevents early death of the patients.
format article
author F Farahmand
author_facet F Farahmand
author_sort F Farahmand
title A case report of A-Beta Lipoproteinemia
title_short A case report of A-Beta Lipoproteinemia
title_full A case report of A-Beta Lipoproteinemia
title_fullStr A case report of A-Beta Lipoproteinemia
title_full_unstemmed A case report of A-Beta Lipoproteinemia
title_sort case report of a-beta lipoproteinemia
publisher Babol University of Medical Sciences
publishDate 2000
url https://doaj.org/article/0ba66fc56e754c34aac59210495e5c97
work_keys_str_mv AT ffarahmand acasereportofabetalipoproteinemia
AT ffarahmand casereportofabetalipoproteinemia
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