Indou Dème LY, Mame Sokhna GUEYE , Aïssatou BA, Ibrahima DIAGNE, Tandakha N. DIEYE

Introduction: The Wiskott Aldrich syndrome (WAS) is a X-linked genetic disease. It is due to a mutation of the WASP gene that regulates the actin cytoskeleton. It is characterized by a clinical triad that combines immune deficiency, eczema and bleeding due to microcytic thrombocytopenia. Immunodeficiency manifests itself by the occurrence of recurrent and / or severe infections, autoimmunity or malignancy.

Objective: We report the clinical observation of a 15 months-old male infant, to remind the clinical manifestations of this disease and to specify the stages of diagnosis and the difficulties of management.

Case report: PMG was born of a non-consanguineous marriage after a well monitored pregnancy. He was first hospitalized at 15 days of life at the Centre Hospitalier National d’Enfants Albert Royer (CHNEAR) for neonatal infection. At 3 months, he was again hospitalized with pneumonia, and at the age of 7 months for diarrhea, eczema and bleeding scratching lesions. Two similar cases were found in elder siblings, both died with the same history of infections.

He presented a proctorrhagia and fever during hospitalization. The hypothesis of Wiskott-Aldrich syndrome was suggested and retained before an history of similar cases in siblings, early and severe infections, eczema and microcytic thrombocytopenia (Platelets: 42000 / mm³). Electrophoresis of serum proteins suggested an inflammatory syndrome with increased gammaglobulin. Lymphocyte immunophenotyping showed normal lymphocyte count TCD3+, TCD4+ and TCD8+. However, B cell level (TCD19 +) was low (˂5%). Currently, it is treated with corticosteroids, iterative transfusion of platelet concentrates, anti-histamine and emollient. Platelet counts remain low, despite the steroids. However, eczema is stabilized by the symptomatic treatment prescribed in dermatology as well as infections are stabilized by symptomatic treatment.

Conclusion: The combination of a hemorrhagic syndrome with eczema and recurrent infections suggests the diagnosis of Wiskott-Aldrich syndrome (WAS). Family history, autoimmune disease, associated with further investigations (biology and genetics) will confirm a mutation of the WASP gene. Better management would require the use of intravenous immunoglobulins, bone marrow transplantation or gene therapy.

Keywords: Wiskott Aldrich syndrome, eczema, thrombocytopenia, bleeding, infant.


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