Burkitt lymphoma in a child with Joubert syndrome.
Joubert syndrome is a rare disorder, characterized by hypoplasia, or aplasia of the cerebellar vermis, hypotonia, ataxia, and psychomotor retardation. The molecular basis underlying the disease is still unknown. There are various syndromes, which are associated with malignancies. Previously known associations between Joubert syndrome and tumors, are benign soft tissue tumors of the tongue and laryngeal lymphangioma. This report describes a 17-year-old boy known with Joubert syndrome, who was diagnosed with Burkitt lymphoma. The boy received chemotherapy, which successfully induced complete remission.
Brinkman
Josanne
J
Department of Pediatrics, Academic Medical Centre, Emma Childrens' Hospital AMC, University of Amsterdam, Amsterdam, The Netherlands. j.brinkman@amc.uva.nl
de Nef
Jaak J E M
JJ
Barth
Peter G
PG
Verschuur
Arnauld C
AC
D000015:Abnormalities, Multiple; D000293:Adolescent; D002051:Burkitt Lymphoma; D002524:Cerebellar Ataxia; D002531:Cerebellum / Q000002:abnormalities*; D006801:Humans; D008297:Male; D009123:Muscle Hypotonia; D011596:Psychomotor Disorders; D013577:Syndrome