Novel Mutation Is Responsible for a Severe Form of Leucocyte Adhesion Deficiency Type 1.

Leukocyte adhesion deficiency type 1 (LAD1) is a rare autosomal recessive hereditary disorder characterized by recurrent infections, impaired pus formation, delayed wound healing, omphalitis, and delayed separation of the umbilical cord as hallmark features of the disease. It results from mutations in the integrin 2 subunit gene , which encodes the integrin beta chain-2 protein CD18. In this study, we aimed to investigate the case of a five-month-old boy who presented with a clinical phenotype and flow cytometry results suggesting LAD1 disease.

[Weber-Christian's disease: a preleukemic disorder?].

Weber christian's disease or idiopathic panniculitis is a rare condition characterized by an inflammation of the subcutaneous adipose tissue; it is a non-specific pathological condition that remains a central issue of debate and whose outcome is unpredictable. We here report the case of a 9-month-old female infant admitted in the hospital with sepsis preceded by respiratory symptoms and followed by the occurrence of small, hard, susceptible, asymmetrical erythematous subcutaneous nodes located in the arms and lower limbs. Cutaneous biopsy showed lobular hypodermitis with polymorphonuclear neutrophil infiltrations.

Gaucher's disease: report of 11 cases with review of literature.

Gaucher's disease (GD) is a lysosomal storage disorder due to glucocerebrosidase deficiency; it's one of the rare genetic diseases for which therapy is now available. The purpose of this work is to study the epidemiological features of the disease and to highlight the diagnostic difficulties. We performed an 11-year retrospective study of 11 patients with GD followed-up in the department of paediatric hepatology gastroenterology and nutrition of Rabat children's Hospital.

Malignant infantile osteopetrosis: case report with review of literature.

Malignant Infantile Osteopetrosis (MIOP) is a rare genetic disorder due to osteoclast abnormal activity. We report a thirteen month-old male patient, diagnosed as MIOP while investigating the cause of hepatosplenomegaly associated with hydrocephalus. His medical history revealed non consanguineous parents and one brother's death at the same age of unknown etiology (similar symptoms).