Scientists think it is caused by a build up of too much iron in the brain. Neurodegeneration with brain iron accumulation nbia. The eponym hallervordenspatz syndrome recalls julius hallervordens and hugo spatzs original description of this pediatric neurodegenerative disorder. 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. 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. The clarification of the role of oxidative distress in the pathophysiology of the syndrome will fill a large void in the understanding of the. Dexmedetomidine for a patient with hallervordenspatz. We report a jordanian arab family where two sibs developed the classical clinical and radiological features of pantothenate kinase associated neurodegeneration pkan, formerly known as hallervordenspatz disease but in addition had an early onset cerebellar ataxia. Neurodegeneration in pkan is accompanied by an excess of iron that progressively builds up in the brain. Keegan mt, flick rp, matsumoto jy, davis dh, lanier wl. A defect of vertical gaze noted in the present case report was also recorded in 3 sisters reported by swisher et al. 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.
Unusual lateonset type of hallervordenspatz disease springerlink. Hallervordenspatz syndrome is a rare neurodegenerative disease of autosomal recessive inheritance which presents in childhood or early adulthood with dystonia, dysarthria, rigidity and choreoathetosis. One showed the typical neuropathological lesions at death. During the past 10 years considerable effort has been expended to determine the genetic basis of hss.
Hallervordenspatz disease pallido nigral hyperpigmentation. Pantothenate kinaseassociated neurodegeneration pkan, formerly hallervorden spatz syndrome, is a rare autosomal recessive disorder characterized by extrapyramidal dysfunction as demonstrated by. Declining use of the hallervordenspatz disease eponym in the. Neurodegeneration with brain iron accumulation nbia are a group of very rare nervous system disorders. Hallervordenspatz disease is degenerative brain disease, meaning the longer a person has it the worse the effects become. We investigated correlations between brain mr imaging changes, mutation status, and clinical disease features. Pantothenate kinaseassociated neurodegeneration pkan, formerly called hallervordenspatz disease hsd, is a rare disorder characterized by progressive extrapyramidal dysfunction and dementia. Declining use of the hallervordenspatz disease eponym in. The red nucleus, the dentate nucleus and the zona reticularis of the substantia nigra showed iron depigmentation. The topic hallervordenspatz disease you are seeking is a synonym, or alternative name, or is closely related to the medical condition neurodegeneration with.
A number of symptomatic therapies are available and should be used optimally for each patient. Unlimited viewing of the articlechapter pdf and any associated supplements and figures. Hallervordenspatz syndrome with seizures hallervordenspatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. 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. Hallervorden spatz syndrome is a rare autosomal recessive hereditary condition characterized by early onset of progressive movement alteration that include dystonia. The hallervordenspatz syndrome hss is a rare condition characterized by extrapyramidal and pyramidal signs, dystonia, dysarthria, retinal degeneration, dementia and a progressive course. Pantothenate kinaseassociated neurodegeneration or hallervorden spatz disease is a rare disease primarily characterized by extrapyramidal symptoms and dementia, or extreme forgetfullness. Pantothenate kinaseassociated neurodegeneration pkan, formerly hallervordenspatz syndrome, is a rare autosomal recessive disorder characterized by extrapyramidal dysfunction as demonstrated by. Definition of hallervordenspatz disease medicinenet. Pantothenate kinaseassociated neurodegeneration simple. Similar controversy surrounds reiter syndrome, and 2 studies demonstrated decreased unqualified use of that eponym in the literature, but not in textbooks. Abstract hallervorden spatz syndrome hss, also referred to as neurodegeneration with brain iron accumulation nbia, is a rare inherited neurodegenerative disorder with childhood. Hallervordenspatz disease hsd is a rare disorder characterized by progressive extrapyramidal dysfunction and dementia. 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.
Hallervordenspatz syndrome jama neurology jama network. Markedly dysarthric speech and a weak atrophic tongue associated with a neurogenic pattern of motor unit recruitment in bulbar. Pdf hallervordenspatzkrankheit befundkonstellation am. Pantothenate kinaseassociated neurodegeneration formerly called hallervordenspatz syndrome is a disorder of the nervous system. The disease is caused by mutations in gene encoding pantothenate kinase 2 pank2 and patients have pantothenate kinaseassociated. A diagnosis of hallervorden spatz was made based on clinical and mri findings. Patientenorientierte krankheitsbeschreibung aus dem. The gene for the disease is on chromosome 20 in region 20pp12. Anesthetic management for twostage computerassisted, stereotactic thalamotomy in a child with hallervordenspatz syndrome. 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. The disease is caused by mutations in gene encoding pantothenate kinase 2 pank2 and patients have pantothenate kinaseassociated neurodegeneration. Hallervorden spatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. The historic and current status of hallervordenspatz syndrome diagnosis, classification, and therapies are discussed.
The surviving sister has been treated with an ironchelater without sustained effect, and with levodopa with improvement of motor abnormalities. However, it has been described in adults usually presenting. There has been a movement to rename hallervordenspatz disease to. It is characterized by extrapyramidal dysfunction, as demonstrated by. 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. Pdf pantothenate kinase associated neurodegeneration. 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. A descriptive term, such as neuroaxonal dystrophy, which communicates more about the condition.
A heredofamilial syndrome, inherited as an autosomal recessive trait. Julius hallervordens important contribution to the practice of neuropathology over a long career cannot be underestimated. Hallervordenspatz syndrome, pank2, and the tigers eyes. Hallervordenspatz syndrome uncountable hallervordenspatz disease. 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. Pantothenate kinaseassociated neurodegeneration wikipedia. Pdf hallervordenspatz disease hsd is a rare disorder characterized by. Routine iron stains detect the metal mostly in microglia and macrophages, but scattered neurons are. It is characterized by extrapyramidal and pyramidal signs, dystonia, dysarthria, and iron accumulation in the globus pallidus and brain stem nuclei 16. Hallervordenspatz syndrome and brain iron metabolism. Sir, hallervordenspatz disease hsd is a rare neurological condition, caused by iron accumulation, which causes degeneration of the central nervous system. Movement abnormalities include involuntary muscle spasms, rigidity, and trouble with walking that worsens. Striatal and pontocerebellar hypoperfusion in hallervorden. Hallervordenspatz disease hsd, a rare extrapyramidal motor illness, is usually only confirmed after death.
Hallervordenspatz syndrome is a clinically heterogeneous genetic neurodegenerative disorder associated with iron accumulation in the brain. There has been a movement to rename hallervordenspatz disease to pantothenate kinaseassociated neurodegeneration given hallervorden and spatzs complicity in murderous nazi programs. There is no specific treatment for hallervordenspatz syndrome. The rare condition of nonfamilial hallervordenspatz syndrome, without involvement of the zona reticularis and the cerebral cortex, was considered to be the diagnosis. 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. Pantothenate kinaseassociated neurodegeneration hallervordenspatz disease is a progressive neurodegenerative disorder. 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. 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. Familial cases have been reported by others as well. Hallervorden spatz disease now more commonly known as pantothenate kinase associated neurodegeneration pkan is a rare autosomal.
Adult hallervordenspatz syndrome simulating amyotrophic. Aberrant iron metabolism in the brain is typified by hallervordenspatz syndrome. Although one gene locus has been identified, many patients do not manifest linkage to the nbia1 locus neurodegeneration with brain iron accumulation. 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 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. Pantothenate kinaseassociated neurodegeneration pkan. 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. In this disorder, large amounts of iron are deposited in the globus pallidus and the pars reticulata of the substantia nigra.
The hallervordenspatz syndrome is typically thought of as a paediatric condition with extrapyramidal features and dementia. Stereotactic pallidotomy has been described in a 10yearold male with subsequent functional. Two sisters with hallervordenspatz syndrome hss were treated with antiparkinson drugs. 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. Neurodegeneration mit eisenablagerung im gehirn pdf achsenetzwerk.
Hallervorden and spatz first described the disease, in 1922 as a form of familial brain degeneration characterized by iron deposition in the brain. This condition is characterized by progressive difficulty with movement, typically beginning in childhood. Iron in the hallervordenspatz syndrome iron in the hallervordenspatz syndrome koeppen, arnulf h. Numerous axonal spheroids were noted in these areas and in the gracile and cuneate nuclei. Hallervordenspatz disease hsd is a genetic neurological disorder that causes problems with movement. Nbia involves movement problems, dementia, and other nervous system symptoms. However, his work as a pathologist during the third reich put him in close proximity with the implementation of. Here we present an unusual case of atypical hallervordenspatz. Clinical heterogeneity of neurodegeneration with brain. The disease was first described in 1922 by two german physicians, hallervorden and spatz, as a form of familial brain degeneration characterized by. A genetic disorder in which there is progressive neurologic degeneration with the accumulation of iron in the brain. Hallervordenspatz syndrome hss is a neurodegenerative disorder characterized by progressive dementia, dystonia, ataxia, and rigidity.
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