+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

A case of Hallervorden-Spatz syndrome with marked atrophy of the brainstem and cerebellum



A case of Hallervorden-Spatz syndrome with marked atrophy of the brainstem and cerebellum



Rinsho Shinkeigaku 33(5): 525-529



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.

Please choose payment method:






(PDF emailed within 1 workday: $29.90)

Accession: 045034218

Download citation: RISBibTeXText

PMID: 8365059


Related references

Optic atrophy as the first symptom in Hallervorden-Spatz syndrome. Child's Nervous System 14(3): 135-138, 1998

Optic atrophy as the presenting sign in Hallervorden-Spatz syndrome. Neuropediatrics 25(5): 265-267, 1994

Alpha-synuclein accumulation in a case of neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome) with widespread cortical and brainstem-type Lewy bodies. Acta Neuropathologica 100(5): 568-574, 2000

Hallervorden-Spatz syndrome and MRI: the "tiger's eye". One case. Journal of Neuroradiology 20(1): 70-75, 1993

Hallervorden-Spatz Syndrome: A case report. Klinische Monatsblaetter fuer Augenheilkunde 208(5): 356-357, 1996

Hallervorden-Spatz syndrome: report of a case. Arquivos de Neuro-Psiquiatria 51(1): 130-133, 1993

Hallervorden-Spatz syndrome: a case presentation. Klinische Monatsblatter für Augenheilkunde 208(5): 356-357, 1996

A case of Hallervorden-Spatz syndrome diagnosed antemortemly. Chinese Medical Journal 106(2): 153-156, 1993

Autopsy case of Hallervorden-Spatz syndrome with Lewy body. Shinkei Kenkyu no Shimpo. Advances in Neurological Sciences 10(4): 700-707, 1966

Generalized freezing in Hallervorden-Spatz syndrome: Case report. European Journal of Neurology 6(4): 509-513, 1999

Hallervorden Spatz syndrome: magnetic resonance findings. Case report. Arquivos de Neuro-Psiquiatria 62(3a): 730-732, 2004

A case of Hallervorden-Spatz syndrome--clinical course and successive findings of brain CT. No to Hattatsu 23(6): 628-630, 1991

Pallido-nigro-luysian atrophy, progressive supranuclear palsy and adult onset Hallervorden-Spatz disease: a case of akinesia as a predominant feature of parkinsonism. Journal of the Neurological Sciences 101(1): 98, 1991

"Hallervorden-Spatz syndrome--infantile neuroaxonal dystrophy" complex. Case report. Arquivos de Neuro-Psiquiatria 46(1): 69-72, 1988