[Plexiform neurofibroma and basal ganglia anomaly in Watson syndrome].
A 4 year-old boy was referred for diagnostic reevaluation with known pulmonary valve stenosis. Physical examination revealed multiple cafe-au-lait spots, inguinal freckling and on the right side in supraclavicular region a softly, non-painful tumour. The boy showed a mild mental and language retardation. Ultrasound and MRT demonstrated supraclavicular a plexiform neurofibroma and intracranial increased intensity lesions in basal ganglia and mesencephalon. In our patient, we have diagnosed a Watson-Syndrome, the overlap and differences to neurofibromatosis type I is discussed.
Klinik und Poliklinik für Kinderheilkunde, Universitätsklinik Münster.
P
P
Weber
S
S
Kotthoff
G
G
Schuierer
G
G
Kurlemann
D001479:Basal Ganglia / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006258:Head and Neck Neoplasms / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D018318:Neurofibroma, Plexiform / Q000175:diagnosis / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000235:genetics*; D011666:Pulmonary Valve Stenosis / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014057:Tomography, X-Ray Computed
Plexiformes Neurofibrom und Stammganglien-Anomalie beim Watson-Syndrom.