Cerebellar vermis hypoplasia in a patient with Bardet-Biedl syndrome.
Laurence-Moon-Bardet-Biedl syndome is an autosomal recessive condition characterized by retinal dystrophy, obesity, mental retardation, distal limb anomaly, hypogonadism, and renal dysfunction. The symptoms vary among families and even among affected siblings. Certain clinical signs have been used to identify subgroups of patients with this complex condition. Laurence-Moon syndrome as a distinct entity is rare and features paraplegia in the absence of polydactyly or obesity. Bardet-Biedl syndrome is characterized by distal limb anomaly, obesity, and renal involvement, but neurologic symptoms are very unusual. We report a patient exhibiting characteristic features of Bardet-Biedl syndrome in addition to cerebellar vermis hypoplasia and mega cisterna magna.
Baskin
Esra
E
Department of Pediatrics, Başkent University Faculty of Medicine, Ankara, Turkey. esrabaskin@hotmail.com
Kayiran
Sinan Mahir
SM
Oto
Sibel
S
Alehan
Füsun
F
Agildere
A Muhtesem
AM
Saatçi
Umit
U
D020788:Bardet-Biedl Syndrome / Q000175:diagnosis*; D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000175:diagnosis; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis; D007674:Kidney Diseases / Q000150:complications / Q000175:diagnosis; D008279:Magnetic Resonance Imaging; D009765:Obesity / Q000150:complications / Q000175:diagnosis; D017689:Polydactyly / Q000150:complications / Q000175:diagnosis; D012162:Retinal Degeneration / Q000150:complications / Q000473:pathology