Hallervorden-spatz syndrome restricted to the pallidal nuclei

Kessler, Ch.; Schwechheimer, K.; Reuther, R.; Born, J. A.

doi:10.1007/bf00313676

Cited by 11 publications

(3 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…133 Dystonia is an important feature. Involves deposition of iron-containing pigment and degeneration in GP and SN 134 as well as red n. and dentate n.. 135 GP pathology is believed key. 135138 Some cases also show putaminal pathology.…”

Section: Acquiredmentioning

confidence: 99%

The Dystonias

McGeer

1988

Can. j. neurol. sci.

View full text Add to dashboard Cite

Dystonia is a difficult problem for both the clinician and the scientist. It is sufficiently common to be seen by almost all physicians, yet uncommon enough to prevent any physician from gaining broad experience in its diagnosis and treatment. Each case represents a difficult challenge even to the specialist. The basic scientist is faced with investigating a disorder that is without relevant animal models and which is so rare that obtaining suitable tissue for study is a major obstacle. Dystonia may be idiopathic, or associated with lesions from many sources, including a variety of rare diseases. If idiopathic, it may be genetically transmitted or sporadic. If genetically transmitted, it may be generalized or focal, with symptoms varying in different members of the same family. It may be refractory to treatment, or it may respond to any one of a number of individual drugs that have very different mechanisms of action. For idiopathic dystonias, no clear method of genetic transmission has been established and no consistent pathology identified.

show abstract

Section: Acquiredmentioning

confidence: 99%

The Dystonias

McGeer

1988

Can. j. neurol. sci.

View full text Add to dashboard Cite

show abstract

“…In general, the prominent pathological alterations were observed in both the globus pallidus and the substantia nigra in this syndrome. However, a previous report described an HSS patient who suffered from severe torsion dystonia from the age of 10, and the pathological findings were restricted to the pallidal nuclei 1 . Therefore, the pathologic alteration may relate to the onset of the disorder and neurological development.…”

Section: Discussionmentioning

confidence: 96%

An 8-year-old boy with gait disturbance and the rapid increase of muscle tonus

Yamashita

2010

Neuropathology

View full text Add to dashboard Cite

The patient is an 8-year-old boy with gait disturbance and rapid increase of muscle tonus. He was born uneventfully at 40 weeks gestation and weighed 3120 g. He was able to walk alone at the age of 18 months, but speech was delayed until 24 months. At 3 years, his speech became unclear and he began to fall frequently. At 6 years, he entered to an ordinary class at elementary school, and was able to run, walk down stairs using a handrail, as well as read, write and calculate normally. Walking disturbance with pes equinovarus and clumsy hands began at 7 years of age. By 8 years he was unable to walk and was referred to our hospital.Neurological examination revealed a dystonic posture, athetotic movements, hyper-reflexia in the lower extremities and positive Babinski reflex. His speech was slurred and an articulation disturbance was noted. In addition, his swallowing was interrupted.His clinical course worsened, with his dystonia, athetosis and opistotonic posture becoming aggravated at 3 months after admission to the hospital. He expired at the age of 8 years and 10 months because of choking on sputum.Laboratory examination on admission revealed that complete blood count and blood chemistry were within normal ranges, including 52.3 mg/dL Fe, 108.2 mg/dL Cu, 38.2 mg/dL ceruloplasmin, 6.4 m/dL lactate and 0.27 mg/dL pyruvate. CSF showed no cell count, 12.7 mg/dL total protein and 59 m/dL sugar. Serum amino acid analysis, WBC and a lysosomal enzyme assay of eight enzymes were within normal ranges. Nerve conduction velocity and needle electromyograph were normal. Electroencephalography showed a dysrythmic awake pattern and no paroxysmal discharges. His intelligence quotient was 67 by the Tanaka Binet test. Fundoscopy showed a retinal pigment degeneration. CT scan revealed no abnormalities in the cerebral cortex and white matter, but symmetrical speckled high densities in the bilateral basal ganglia (Fig. 1). No MRI findings were available. NEUROPATHOLOGICAL FINDINGSAt autopsy, the brain weighed 1096 g, less than the expected weight of 1350 g. The brain was atrophic proportionally and each cerebral gyrus was preserved. On section, there was brown discoloration of the medial part of the internal segment of the globus pallidus (Fig. 2). The dark tone in the bilateral substantia nigra was normal. Fig. 1 CT scan of the patient at 8 years of age. CT scan shows symmetrical bilateral speckled high densities in the globus pallidus, although the cerebral cortex and white matter are normal.

show abstract

“…The differential diagnosis of bilateral globus pallidus lesions may include mitochondrial disease, metabolic disease, Wilson's disease, neurodegeneration with brain iron accumulation (previously termed Hallervoden-Spatz disease), accidental disulfiram ingestion, and surgical manipulation of the globus pallidus. [12][13][14][15][16] Laboratory findings, MR signal characteristics and a negative history of drug ingestion or stereotactic surgery can exclude these alternative diagnoses.…”

Section: Discussionmentioning

confidence: 99%

A Case of Adult Onset Tic Disorder Following Carbon Monoxide Intoxication

Ahn²,

Kim³

et al. 2004

Can. j. neurol. sci.

View full text Add to dashboard Cite

268Tics are sudden, purposeless, brief, jerky stereotyped movements or sounds and they are usually socially, occupationally and functionally disabling. 1 Tic disorders are commonly considered to be childhood disorders. If the onset of the symptom is in adulthood, childhood tic experience should be questioned. 2 If they are truly new ones, the secondary causes need to be considered. 3 The common causes of secondary tic disorders are cerebrovascular disease, head injury, infection, drugs and toxins. [4][5][6] There is only one case report of tic disorder caused by carbon monoxide (CO) poisoning in the literature. 7 The patient was a 56-year-old man who was accidentally poisoned by CO in his winter cabin. He was comatose for several weeks. After recovering from coma, he had repetitive, stereotyped, irregular unvoluntary movements of his head. Brain computed tomography showed cortical atrophy, sulcal widening and enlargement of the ventricles with patchy low-density lesions in the basal ganglia. Tic disorder in this patient occurred in conjunction with diffuse encephalopathy.Herein, we report a case of mono-symptomatic tic disorder, with typical magnetic resonance image (MRI) finding, caused by CO poisonings.ABSTRACT: Background: Adult onset tic disorders are usually secondary in origin. We report a case of adult onset tic disorder following carbon monoxide (CO) intoxication with typical magnetic resonance imaging features. Case Report: A 36-year-old woman developed temporarily suppressible patterned movements on her face, neck, and shoulder associated with sensory discomfort after CO poisoning. Magnetic resonance images showed bilateral symmetric cavitary changes in the globus pallidus. Clonazepam relieved much of her symptoms. Conclusion: Our patient developed a monosymptomatic tic disorder following CO intoxication. This further supports that altered outflow signals from the basal ganglia, especially the globus pallidus, may contribute to the development of tic disorders.RÉSUMÉ: Un cas de tics chez un adulte après une intoxication à l'oxyde de carbone. Introduction: Les tics apparaissant chez l'adulte sont habituellement d'origine secondaire. Nous rapportons un cas de tics apparus chez une adulte suite à une intoxication à l'oxyde de carbone (CO) . À l'imagerie par résonance magnétique les lésions observées avaient un aspect typique. Observation: Des mouvements involontaires de la face, du cou et des épaules associés à une sensation d'inconfort sont apparus chez une femme âgée de 36 ans à la suite d'un empoisonnement par le CO. Ces mouvements étaient répétitifs et elle pouvait les supprimer temporairement. L'imagerie par résonance magnétique a montré des changements cavitaires symétriques bilatéraux dans le globus pallidus. Le clonazépam a soulagé la plupart de ses symptômes. Conclusion: Un trouble du mouvement monosymptomatique est apparu chez notre patiente à la suite d'une intoxication au CO. Des signaux efférents altérés provenant du noyau lenticulaire, du noyau caudé, de l'avant-mur et du noyau amygdalien co...

show abstract

Hallervorden-spatz syndrome restricted to the pallidal nuclei

Cited by 11 publications

References 9 publications

The Dystonias

The Dystonias

An 8-year-old boy with gait disturbance and the rapid increase of muscle tonus

A Case of Adult Onset Tic Disorder Following Carbon Monoxide Intoxication

Contact Info

Product

Resources

About