Hallerborden Spatz disease.
نویسندگان
چکیده
Hallervorden Spatz disease is a rare disorder characterized by progressive extrapyramidal dysfunction. We report a case of a 18 year old boy who presented with cervical dystonia, pigmentary retinal degeneration and MRI brain showing the "eye-of-the-tiger" appearance. Renamed recently as "Neurodegeneration with brain iron accumulation", we present this case for its rarity and interesting features.
منابع مشابه
Radiologic features of Hallervorden Spatz Disease.
Hallervorden Spatz Disease is a rare familial neurodegenerative disorder, which primarily affects children but also can occur in adults. Major clinical features are abnormal involuntary movements and cognitive impairment. Diagnosis is based on clinical and radiological features. The radiological features are hypointense signals in globus pallidus and substantia niagra on MR! of brain. Occasiona...
متن کاملHallervorden-Spatz syndrome: a rare cause of extrapyramidal manifestations
Hallervorden-Spatz syndrome is a rare neurodegenerative disease of autosomal recessive inheritance which presents in childhood or early adulthood with dystonia, dysarthria, rigidity and choreoathetosis. Here we present an unusual case of atypical Hallervorden-Spatz syndrome with onset during adolescence and rapid progression in a young female patient who showed the characteristic "eye of the ti...
متن کاملGenetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
BACKGROUND Hallervorden-Spatz syndrome is an autosomal recessive disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. Many patients with this disease have mutations in the gene encoding pantothenate kinase 2 (PANK2); these patients are said to have pantothenate kinase-associated neurodegeneration. In this study, we compared the clinical and radiographic features...
متن کاملمعرفی دو عضو یک خانواده مبتلا به بیماری هالروردن- اسپاتز
Hallervorden Spatz Disease is a rare neurodegenerative disorder with the prevalence of one to three per million. The onset of symptoms is usually in late childhood and early adolescence. However, some cases of the disease were reported in adulthood which could be familial or sporadic. The familial cases are autosomal-recessive resulting from mutation in the pantothenate kinase 2 gene located on...
متن کاملAdult onset Hallervorden-Spatz disease with psychotic symptoms.
Hallervorden-Spatz disease is a rare neurological disorder characterized by pyramidal and extrapyramidal manifestations, dysarthria and dementia. Its onset is usually in childhood and most patients have a fatal outcome in few years. A high percentage of cases are hereditary with a recessive autosomal pattern. In the majority of the patients reported, a mutation of the gene that encodes the pant...
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ورودعنوان ژورنال:
- The Journal of the Association of Physicians of India
دوره 54 شماره
صفحات -
تاریخ انتشار 2006