title: [A case of Hallervorden-Spatz syndrome with marked atrophy of the brainstem and cerebellum].
abstract: We report a 20-year-old female with Hallervorden-Spatz syndrome (HSS). This patient is the product of consanguineous parents. She developed genu valgum, tendency to fall and mental deterioration at the age of 6, decrease of the number of spoken words at the age of 14, dysarthria, unsteady gait, postural tremor of the upper extremities, dystonic posture of hands and double incontinence at the age of 16. Her disease progressed slowly. Neurological examination on admission revealed severe mental retardation, optic atrophy, forced grasping, hyperactive tendon reflexes in the upper extremities and bilateral Babinski sign. An extensive laboratory investigation including the leukocyte lysosomal enzymes, serum amino acid analyses, copper studies and ceruloplasmin were almost within normal limits. MRI, T2 weighted images, showed markedly decreased signal intensity in the globus pallidus but substantia nigra and increased signal intensity in diffuse cerebral white matter. T1 weighted images showed marked atrophy of the brainstem and cerebellum. She met the diagnostic criteria for HSS by Swaiman; we diagnosed her as HSS group II. HSS is characterized by the presence of many spheroids in the central nervous system which is similar to neuroaxonal dystrophy (ND). However, clinical and pathological differences exist between HSS and ND, the precise classification of the two conditions has remained controversial. Although there are many reported cases in which both conditions overlap, this is the first reported case that simultaneously demonstrates increased iron deposition in the globus pallidus, marked atrophy of the brainstem and cerebellum and typical clinical course compatible with HSS.
authors.affiliation: Department of Neurology, Kanto Teishin Hospital.
authors.forename: N
authors.initials: N
authors.lastname: Sodeyama
authors.forename: M
authors.initials: M
authors.lastname: Arai
authors.forename: N
authors.initials: N
authors.lastname: Sanjoh
authors.forename: S
authors.initials: S
authors.lastname: Orimo
authors.forename: M
authors.initials: M
authors.lastname: Tamaki
mesh_terms: D000328:Adult; D001284:Atrophy; D001933:Brain Stem / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000175:diagnosis / Q000473:pathology*