Wiskott-Aldrich syndrome with normal platelet volume in a low-income setting: a case report.

Autor:	Mawalla WF; Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Science (MUHAS), P.O. Box 65001, Upanga, Dar es Salaam, Tanzania., Iddy H; Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences. Dar es Salaam, Tanzania., Kindole CA; Department of Paediatrics and Child Health, Muhimbili National Hospital, Dar es Salaam, Tanzania., Nasser A; Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences. Dar es Salaam, Tanzania., Schuh A; Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences. Dar es Salaam, Tanzania.; Oxford Molecular Diagnostic Centre, Department of Oncology, University of Oxford, John Radcliffe Hospital, Oxford, UK.
Jazyk:	angličtina
Zdroj:	Therapeutic advances in rare disease [Ther Adv Rare Dis] 2021 Apr 26; Vol. 2, pp. 26330040211009905. Date of Electronic Publication: 2021 Apr 26 (Print Publication: 2021).
DOI:	10.1177/26330040211009905
Abstrakt:	Wiskott-Aldrich syndrome (WAS) is a rare immunodeficiency X-linked genetic disorder. It is often featured with a clinical triad of thrombocytopenia with low mean platelet volume, eczematoid dermatitis and recurrent infections. The clinical manifestation of WAS, depending on the underlying variant, shows wide heterogeneity. We present a case of a 10-month-old boy who came in with a history of recurrent fever, skin lesions since birth and episodes of bloody diarrhoea. He had severe anaemia and thrombocytopenia (with normal mean platelet volume). Genetic analysis revealed the patient to be hemizygous for a pathogenic WAS gene splice variant (NM_000377.2:c.360+1G>A). He was managed with supportive treatment and regular follow up, but died 4 months later. As it is a rare genetic disease, the diagnosis of WAS can easily be missed, especially in settings with scarce healthcare resources that do not have easy access to genetic testing. Thus, a high index of suspicion is needed when a male child presents with recurrent infections and bleeding tendencies. Plain Language Summary: Management challenges of a rare genetic disorder in a resource-limited country: a case report of Wiskott-Aldrich syndrome in TanzaniaWiskott-Aldrich syndrome (WAS) is a rare inherited disease that mainly affects boys. Patients will typically present with low levels of a single line of little particles of cells that clot the blood called platelets, whole-body skin rashes and recurrent infections. Nevertheless, the clinical presentation can vary between individuals. We present a case of a 10-month-old boy who came in with a history of recurrent fever, skin rash since birth and episodes of bloody diarrhoea. He had very low levels of red blood cells and platelets. Genetic analysis confirmed the patient to have WAS. He was managed with supportive treatment, followed up on a regular clinic but unfortunately died 4 months later. Being a rare genetic disease, the diagnosis of WAS can easily be missed, especially in regions with scarce healthcare resources that do not have easy access to genetic testing. Thus, doctors should suspect WAS in boys presenting with recurrent infections and bleeding problems. Competing Interests: The authors declare that there is no conflict of interest. (© The Author(s), 2021.)
Databáze:	MEDLINE
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