SEVERE HUNTER DISEASE: ABOUT A CASE

Hunters disease is a rare genetic disorder caused by the abnormal buildup of compounds called glycoaminoglycans (or mucopolysaccharides) in body cells. There is a range of clinical forms ranging from severe forms (type A), with early intellectual impairment, to moderate forms (type B) with little or no intellectual impact. Its prognosis is reserved given the notion of multisystemic failure. The diagnosis is based on the dosage of high urinary glycosaminoglycans and the dosage of the collapsed iduronate-2-sulfatase activity. Brain magnetic resonance imaging allows early detection of lesions indicative of cranial damage. Management is based on enzyme replacement therapy and on hematopoietic stem cell transplantation. It delays clinical manifestations and improves the quality of life for patients. We report the case of a boy with this pathology in his severe form.