Psychiatric Disorder in Two Siblings with Hallervorden-Spatz Disease

Hallervorden-Spatz disease (HSD) is a rare autosomal-recessive hereditary disorder characterized by the early onset of progressive movement alterations, including dystonia, rigidity, choreoathetosis, and mental deterioration. HSD is also associated with a variety of psychiatric symptoms, primarily depression and mental deterioration. However, psychosis has rarely been reported as a major symptom of HSD. We report two siblings who presented psychiatric symptoms as major clinical presentations, accompanied by ataxic and spastic gait, dysarthria, and typical neuroimaging findings of HSD. A 14-year-old girl presented complex motor tics, stereotypic behavior and anxiety symptoms. Her older brother, a 16-year-old boy, presented prominent auditory hallucinations, persecutory delusions and social withdrawal symptoms. Psychiatric symptoms were improved after atypical antipsychotic treatment. HSD is a rare disease but should be carefully considered in the diagnosis of patients with both motor disorder and various psychiatric symptoms.

A Case of Fly Catcher's Tongue Phenomenon in Hallervorden-Spatz Disease

Hallervorden-Spatz disease (HSD) is a rare, progressive, autosomal recessive hereditary disorder characterized by pyramidal and extrapyramidal signs, speech disturbances, mental deterioration and retinal degeneration during childhood or adolescence. In late-onset form after the age of 20, parkinsonian features may be the predominant clinical manifestation. Meanwhile, involuntary tongue movements are rare and poorly understood, which have been reported in tardive dyskinesia, neuroacanthocytosis, chronic epilepsy, and after head trauma. We report a case of a patient with 'fly catcher's tongue' as a major clinical presentation, accompanied with mild parkinsonism, and typical MR findings of HSD.

Proton Nuclear MR Spectroscopy (H-MRS) in Adult Onset Hallervorden-Spatz Disease

Background & Significance : Hallervorden-Spatz disease (HSD) is a rare neurologic disorder characterized by progressive dystonia, retinal degeneration, pyramidal sign, and mental deterioration. The neuropathological findings include preferential deposition of iron within the extrapyramidal nuclei, including globus pallidus, substantia nigra, and red nuclei. The final diagnosis depends on the typical pathologic findings. MRI brain imaging study commonly shows so-called "eye-of-the-tiger" in the globus pallidus. However 1H-MRS findings of HSD have not been reported. We experienced a case with clinically suspicious HSD whose diagnosis was further supported by 1H-MRS. Case : A forty four year-old man presented with slowly progressive dystonia for six years. He had been well until age of thirty eight, when he noticed clumsy hand-writing. Three years later, he developed difficulty in chewing. Clumsiness of his hands and arm movements progressed to the point of difficulty in using spoon and chopsticks. While walking, arm swing was decreased and both arms and neck took more dystonic posture. Brain MRI (T2Wl) showed symmetric high signal intensity lesions in the globus pallidus, surrounded by a peripheral zone of exaggerated low signal. On 1H-MRS of basal ganglia, although choline, creatine and N-acetyl-aspartate (NAA) peaks were detected, marked noise probably due to paramagnetic substance (iron), made quantitative analysis difficult. Conclusion : 1H-MRS of HSD is characterized by "noise", which may be suggestive of HSD.

The report of Hallervorden-Spatz disease in 3 members of a family / 临床神经病学杂志

Objective To explore the pathogenic course,clinical features and prognosis on hallervorden spatz disease(HSD).Methods To review and sum up clinical data of three patients of 1985 with HSD in one family,and followed up survey in 2001.Results The same parents had three(2 males,1 female) of six children who were suffered from HSD.Clinical features include bilateral pigmentary degeneration of the retina,optic atrophy and progressive dementia,and lay in bed after several years with convulsive seizure,opisthotonus,limb rigidity,hyperreflexia, pyramidal sign positive;they were suited therapy to the illness.2 cases for death,another case for progressive deterioration,the patient lost labour ability and couldn't take care of himself.Conclusion HSD is kindred hereditary disorder,major cases occur the symptoms before 20 years old (progressive deterioration).After attacking about 20 years the patients died.The HSD gene located on chromosome 20p12.3 p13.