Manuscript Title:

LOUIS BAR SYNDROME: TWO FAMILY CASES AND REVIEW OF THE LITERATURE

Author:

KAHINA OUAHBI, OURIDA GACEM, NACERA HAMADOUCHE, NAZIHA MEHABA, MOHAMED SAMIR LADJ

DOI Number:

DOI:10.5281/zenodo.11178870

Published : 2024-05-10

About the author(s)

1. KAHINA OUAHBI - Department of Pediatrics, El Biar Hospital (Birtraria), Algiers, Faculty of Medicine, Benyoucef Benkhedda University Algiers 1, Algeria.
2. OURIDA GACEM - Department of Pediatrics, El Biar Hospital (Birtraria), Algiers, Faculty of Medicine, Benyoucef Benkhedda University Algiers 1, Algeria.
3. NACERA HAMADOUCHE - Department of Pediatrics, El Biar Hospital (Birtraria), Algiers, Faculty of Medicine, Benyoucef Benkhedda University Algiers 1, Algeria.
4. NAZIHA MEHABA - Department of Pediatrics, El Biar Hospital (Birtraria), Algiers, Faculty of Medicine, Benyoucef Benkhedda University Algiers 1, Algeria.
5. MOHAMED SAMIR LADJ - Department of Pediatrics, El Biar Hospital (Birtraria), Algiers, Faculty of Medicine, Benyoucef Benkhedda University Algiers 1, Algeria.

Full Text : PDF

Abstract

Ataxia-telangiectasia (AT), also known as Louis-Bar syndrome, is a rare genetic disorder, which is one of the DNA-breaking diseases. It is the second most common cause of autosomal recessive cerebellar ataxia, secondary to a mutation in the Ataxia-telangiectasia mutated (ATM) gene. It combines progressive cerebellar ataxia, ocular and cutaneous telangiectasias, a severe mixed immune deficiency mainly affecting humoral immunity and a strong predisposition to malignant tumors, mainly lymphomas. We report the case of two brothers suffering from ataxia telangiectasia, aged 2 and 4 years respectively, from young 3rd degree consanguineous parents. The first patient was diagnosed during a serious infection and the second during a family inquiry.


Keywords

Ataxia Telangiectasia, Ataxia-Telangiectasia Mutated, Immune Deficiency, Recurrent Infections.