A case of cranial meningocele associated with Joubert syndrome.
Joubert syndrome was first reported in 1969 as a rare, recessive autosomal syndrome associated with neuropathological abnormalities of the cerebellum and brain stem, partial or complete aplasia of the cerebellar vermis, and presenting with episodic hyperpnea and apnea, oculomotor abnormalities, and psychomotor retardation. Having experienced one case of this syndrome with associated cranial meningocele, we report the clinical course, MRI features, and surgical findings, and discuss the relevant literature.
Suzuki
T
T
Department of Neurosurgery, Iwate Medical University, Morioka, Japan.
Hakozaki
M
M
Kubo
N
N
Kuroda
K
K
Ogawa
A
A
D001933:Brain Stem / Q000002:abnormalities* / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D002552:Cerebral Ventricles / Q000002:abnormalities / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008588:Meningocele / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D009460:Neurologic Examination; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D013577:Syndrome