Hallervordenspatz disease hsd, a rare extrapyramidal motor illness, is usually only confirmed after death. Aberrant iron metabolism in the brain is typified by hallervordenspatz syndrome. Hallervordenspatz syndrome restricted to the pallidal. It is characterized by extrapyramidal and pyramidal signs, dystonia, dysarthria, and iron accumulation in the globus pallidus and brain stem nuclei 16. Striatal and pontocerebellar hypoperfusion in hallervorden.
Although one gene locus has been identified, many patients do not manifest linkage to the nbia1 locus neurodegeneration with brain iron accumulation. Neurodegeneration with brain iron accumulation nbia are a group of very rare nervous system disorders. Scientists think it is caused by a build up of too much iron in the brain. Hallervorden spatz disease hsd falls in the category of neurodegeneration with brain iron accumulation nbia, a group of progressive extrapyramidal disorders with radiologic evidence of focal iron accumulation in the brain. It is characterized by extrapyramidal dysfunction, as demonstrated by.
The definitive diagnosis of hallervorden spatz disease could only be made on histopathological grounds hence the term hallervorden spatz syndrome has been used for the clinical entity, when diagnosis is made on the bases of clinical and laboratory parameters 7. The historic and current status of hallervordenspatz syndrome diagnosis, classification, and therapies are discussed. Unusual lateonset type of hallervordenspatz disease springerlink. However, it has been described in adults usually presenting. This condition is characterized by progressive difficulty with movement, typically beginning in childhood. Movement abnormalities include involuntary muscle spasms, rigidity, and trouble with walking that worsens. The disease was first described in 1922 by two german physicians, hallervorden and spatz, as a form of familial brain degeneration characterized by. Hallervorden spatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. Clinical heterogeneity of neurodegeneration with brain. Hallervordenspatz syndrome hss is a group of rare and severe diseases characterized by optic atrophy, slowly progressive extrapyramidal symptoms starting in childhood, and usually dementia and death in early adulthood. Iron in the hallervordenspatz syndrome iron in the hallervordenspatz syndrome koeppen, arnulf h. Keegan mt, flick rp, matsumoto jy, davis dh, lanier wl. Pantothenate kinaseassociated neurodegeneration or hallervorden spatz disease is a rare disease primarily characterized by extrapyramidal symptoms and dementia, or extreme forgetfullness. A genetic disorder in which there is progressive neurologic degeneration with the accumulation of iron in the brain.
Julius hallervorden 21 october 1882 29 may 1965 was a german physician and neuroscientist hallervorden was born in allenburg, east prussia druzhba, znamensk, kaliningrad oblast, russia to psychiatrist eugen hallervorden. Two sisters with hallervordenspatz syndrome hss were treated with antiparkinson drugs. A number of symptomatic therapies are available and should be used optimally for each patient. There has been a movement to rename hallervordenspatz disease to. Hallervordenspatz syndrome uncountable hallervordenspatz disease. Hallervordenspatz disease hsd is a rare disorder characterized by progressive extrapyramidal dysfunction and dementia. In addition to these typical changes of hallervordenspatz disease hsd, abundant neurofibrillary tangles nfts were found within the hippocampus, neocortex, nuclei of basal forebrain, subthalamic nucleus and brainstem reticular formation. Julius hallervordens important contribution to the practice of neuropathology over a long career cannot be underestimated. Numerous axonal spheroids were noted in these areas and in the gracile and cuneate nuclei.
During the past 10 years considerable effort has been expended to determine the genetic basis of hss. The original description of this syndrome by hallervorden and spatz 1922 concerned a sibship of 12 in which 5 sisters showed clinically increasing dysarthria and progressive dementia, and at autopsy brown discoloration of the globus pallidus and substantia nigra. The recent report of a defect in a novel pantothenate kinase gene pank2 in hallervordenspatz syndrome will undoubtedly lead the way to future advances in the diagnosis and management of the syndrome. Unlimited viewing of the articlechapter pdf and any associated supplements and figures. The rare condition of nonfamilial hallervordenspatz syndrome, without involvement of the zona reticularis and the cerebral cortex, was considered to be the diagnosis. There has been a movement to rename hallervordenspatz disease to pantothenate kinaseassociated neurodegeneration given hallervorden and spatzs complicity in murderous nazi programs. Hallervordenspatz syndrome hss is a neurodegenerative disorder characterized by progressive dementia, dystonia, ataxia, and rigidity. Patientenorientierte krankheitsbeschreibung aus dem. The syndrome was first described by julius hallervorden and hugo spatz in 1922 in 5 sisters who showed increasing dysarthria trouble speaking and progressive dementia and, at. Hallervordenspatz syndrome with seizures hallervordenspatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. Syndrome naming is haphazard, with most syndromes being given eponymous names from the author of the firstfound easily accessible paper on the subject, rather than the earliest account of the disease. The topic hallervordenspatz disease you are seeking is a synonym, or alternative name, or is closely related to the medical condition neurodegeneration with.
Pantothenate kinaseassociated neurodegeneration formerly called hallervordenspatz syndrome is a disorder of the nervous system. Familial cases have been reported by others as well. Julius hallervorden was implicated in a programme of mass murder of disabled people in nazi germany and knowingly used the brains of victims as a basis for his reports. Definition of hallervordenspatz disease medicinenet. The clarification of the role of oxidative distress in the pathophysiology of the syndrome will fill a large void in the understanding of the.
Stereotactic pallidotomy has been described in a 10yearold male with subsequent functional. There is no specific treatment for hallervordenspatz syndrome. A heredofamilial syndrome, inherited as an autosomal recessive trait. Pantothenate kinaseassociated neurodegeneration pkan, formerly hallervorden spatz syndrome, is a rare autosomal recessive disorder characterized by extrapyramidal dysfunction as demonstrated by. We investigated correlations between brain mr imaging changes, mutation status, and clinical disease features. Pantothenate kinaseassociated neurodegeneration pkan, formerly called hallervordenspatz syndrome, is a genetic degenerative disease of the brain that can lead to parkinsonism, dystonia, dementia, and ultimately death.
Harper nov 2, p 12241 is correct to draw attention to the activities of hallervorden and spatz. Pdf hallervordenspatz disease hsd is a rare disorder characterized by. Hallervordenspatz syndrome is a clinically heterogeneous genetic neurodegenerative disorder associated with iron accumulation in the brain. The red nucleus, the dentate nucleus and the zona reticularis of the substantia nigra showed iron depigmentation. A diagnosis of hallervorden spatz was made based on clinical and mri findings. Hallervordenspatz syndrome, pank2, and the tigers eyes. Pdf pantothenate kinase associated neurodegeneration. Pantothenate kinaseassociated neurodegeneration pkan, formerly called hallervordenspatz disease hsd, is a rare disorder characterized by progressive extrapyramidal dysfunction and dementia.
Pantothenate kinaseassociated neurodegeneration pkan, also known as neurodegeneration with brain iron accumulation 1 nbia1, also called hallervorden spatz syndrome, is a degenerative disease of the. Abstract hallervorden spatz syndrome hss, also referred to as neurodegeneration with brain iron accumulation nbia, is a rare inherited neurodegenerative disorder with childhood. Neurodegeneration mit eisenablagerung im gehirn pdf achsenetzwerk. Declining use of the hallervordenspatz disease eponym in the. Nbia involves movement problems, dementia, and other nervous system symptoms. Anesthetic management for twostage computerassisted, stereotactic thalamotomy in a child with hallervordenspatz syndrome.
The hallervordenspatz syndrome hss is a rare condition characterized by extrapyramidal and pyramidal signs, dystonia, dysarthria, retinal degeneration, dementia and a progressive course. Markedly dysarthric speech and a weak atrophic tongue associated with a neurogenic pattern of motor unit recruitment in bulbar. Adult hallervordenspatz syndrome simulating amyotrophic. Neurodegeneration in pkan is accompanied by an excess of iron that progressively builds up in the brain. Pantothenate kinaseassociated neurodegeneration hallervordenspatz disease is a progressive neurodegenerative disorder. Hallervordenspatz syndrome is a rare neurodegenerative disease of autosomal recessive inheritance which presents in childhood or early adulthood with dystonia, dysarthria, rigidity and choreoathetosis. Hallervordenspatz disease is degenerative brain disease, meaning the longer a person has it the worse the effects become. One showed the typical neuropathological lesions at death. Pantothenate kinaseassociated neurodegeneration pkan. In this disorder, large amounts of iron are deposited in the globus pallidus and the pars reticulata of the substantia nigra.
Pantothenate kinaseassociated neurodegeneration wikipedia. Pdf hallervordenspatzkrankheit befundkonstellation am. The hallervordenspatz syndrome is typically thought of as a paediatric condition with extrapyramidal features and dementia. Here we present an unusual case of atypical hallervordenspatz. Hallervorden spatz syndrome is a rare autosomal recessive hereditary condition characterized by early onset of progressive movement alteration that include dystonia. Neurodegeneration with brain iron accumulation nbia. The disease is caused by mutations in gene encoding pantothenate kinase 2 pank2 and patients have pantothenate kinaseassociated. However, his work as a pathologist during the third reich put him in close proximity with the implementation of. Patients with a clinical diagnosis of neurodegeneration with brain iron accumulation nbia, formerly called hallervordenspatz syndrome often have mutations in pank2, the gene encoding pantothenate kinase 2.
Dexmedetomidine for a patient with hallervordenspatz. This group of signs described by the acronym harp syndrome has features in common with the rare association of hallervordenspatz disease and acanthocytosis and with the syndrome of choreoacanthocytosis. Neurodegeneration mit eisenablagerung im gehirn wikipedia. A descriptive term, such as neuroaxonal dystrophy, which communicates more about the condition. The recent report of a defect in a novel pantothenate kinase gene pank2 in hallervorden spatz syndrome will undoubtedly lead the way to future advances in the diagnosis and management of the. Senile chorea is a well recognised but poorly understood clinical entity characterised by a slowly progressive, generalised chorea in elderly people without mental deterioration or a clear underlying cause. Hallervordenspatz disease pallido nigral hyperpigmentation. Hallervorden spatz disease now more commonly known as pantothenate kinase associated neurodegeneration pkan is a rare autosomal.
Hallervordenspatz disease hsd is a genetic neurological disorder that causes problems with movement. The purpose of the journal of the belgian society of radiology is the publication of articles dealing with diagnostic and interventional radiology, related imaging techniques, allied sciences, and. Pantothenate kinaseassociated neurodegeneration pkan, formerly hallervordenspatz syndrome, is a rare autosomal recessive disorder characterized by extrapyramidal dysfunction as demonstrated by. Hallervordenspatz syndrome and brain iron metabolism. The disease is caused by mutations in gene encoding pantothenate kinase 2 pank2 and patients have pantothenate kinaseassociated neurodegeneration. Routine iron stains detect the metal mostly in microglia and macrophages, but scattered neurons are. A defect of vertical gaze noted in the present case report was also recorded in 3 sisters reported by swisher et al. Sir, hallervordenspatz disease hsd is a rare neurological condition, caused by iron accumulation, which causes degeneration of the central nervous system. The surviving sister has been treated with an ironchelater without sustained effect, and with levodopa with improvement of motor abnormalities. Hallervorden and spatz first described the disease, in 1922 as a form of familial brain degeneration characterized by iron deposition in the brain.
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