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Burkitt lymphoma in a child with Joubert syndrome
Author(s) -
Brinkman Josanne,
de Nef Jaak J.E.M.,
Barth Peter G.,
Verschuur Arnauld C.
Publication year - 2005
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.20206
Subject(s) - joubert syndrome , medicine , hypotonia , ataxia , aplasia , hypoplasia , cerebellar vermis , pediatrics , pathology , anatomy , cerebellum , psychiatry , biology , cilium , microbiology and biotechnology
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. © 2004 Wiley‐Liss, Inc.