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View article: Griscelli Syndrome Type 2 Revealed by Macrophage Activation Syndrome: Two Cases From the Same Family
Griscelli Syndrome Type 2 Revealed by Macrophage Activation Syndrome: Two Cases From the Same Family Open
View article: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay with Early-Onset Epilepsy and Novel Clinical Features: <i>A rare entity from Morocco in the Middle East and North Africa region</i>
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay with Early-Onset Epilepsy and Novel Clinical Features: <i>A rare entity from Morocco in the Middle East and North Africa region</i> Open
We report a novel presentation of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) in a 9-year-old Moroccan male patient born to consanguineous parents, expanding the known clinical spectrum of the disease. The patient pr…
View article: Phenotype-Genotype Correlation in a Case of Infantile Hypotonia and Epilepsy: A Study of the Clinical Significance of Two Variants of Uncertain Significance in HIVEP2 and LINGO1
Phenotype-Genotype Correlation in a Case of Infantile Hypotonia and Epilepsy: A Study of the Clinical Significance of Two Variants of Uncertain Significance in HIVEP2 and LINGO1 Open
Genetic causes of neurodevelopmental disorders are frequent and complex. We Report The case of a 10-month-old infant followed for psychomotor delay, severe hypotonia, spastic movements of the lower limbs, and focal seizure with impaired co…
View article: Severe congenital hyperinsulinism with progressive neurological deterioration due to novel HADH-GHSR digenic mutations: the first case report
Severe congenital hyperinsulinism with progressive neurological deterioration due to novel HADH-GHSR digenic mutations: the first case report Open
View article: Familial multiple lipomatosis in a child of 13 years
Familial multiple lipomatosis in a child of 13 years Open
View article: Macropephaly-Cutis Marmorata: Case Report and Review of Literature
Macropephaly-Cutis Marmorata: Case Report and Review of Literature Open
Macrocephaly - capillary malformation (M-MC) is a rare genetic disorder initially described in 1997. It is associated with a spectrum of abnormalities including macrocephaly, cerebral and body asymmetry, cutaneous vascular malformations an…
View article: Cause rare d'une toux sèche à l'effort: agénésie de l'artère pulmonaire gauche avec hypoplasie pulmonaire
Cause rare d'une toux sèche à l'effort: agénésie de l'artère pulmonaire gauche avec hypoplasie pulmonaire Open
Agenesis of the left pulmonary artery associated with hypoplasia of the ipsilateral lung is a rare congenital malformation in children; it can be discovered fortuitously or because of the presence of recurrent respiratory infections. Diagn…