Pantothenate kinaseassociated neurodegeneration pkan, also known as neurodegeneration with brain iron accumulation 1 nbia1, also called hallervordenspatz syndrome, is a. Routine iron stains detect the metal mostly in microglia and macrophages, but scattered neurons are also reactive. Pantothenate kinaseassociated neurodegeneration pkan, formerly called hallervordenspatz disease hsd, is a rare disorder characterized by progressive extrapyramidal dysfunction and dementia. Two patients with the infantile onset of a nonfamilial neuroaxonal dystrophy are presented.
Atypical pkan oftenpresents with neuropsychiatric or speech problems followed later by the development of dystonia or parkinsonism, sometimes. This condition is characterized by progressive difficulty with movement, typically beginning in childhood. We had the opportunity to study a family, five of whose members were affected by the hallervorden spatz disease three males and twin girls. Hallervordenspatz disease symptoms, diagnosis, treatments. Pantothenate kinaseassociated neurodegeneration pkan is a rare disease characterized by a progressive degeneration of the nervous system neurodegenerative disorder and buildup of iron in the brain. To the best of our knowledge, this disease has not been reported from india. Hallervorden spatz disease hsd is a rare genetic disorder. It is first described by hallervorden and spatz in 1922.
Kinaseassociated neurodegeneration pkan, is caused by mutations in the gene. Symptoms, which vary greatly among patients and usually develop during childhood, may include dystonia slow writhing. In a 22 year old man with dominant extrapyramidal signs, dystonia and mental deterioration, magnetic resonance imaging revealed marked overall low signal from the globus pallidus on each side, with central zones of high signal on t2weighted spin. Hallervordenspatz disease is a genetic disorder that involves progressive neurological degeneration along with the accumulation of iron in the brain. Hallervordenspatz disease hsd is a genetic neurological disorder that causes problems with movement. Pantothenate kinaseassociated neurodegeneration formerly called hallervorden spatz syndrome is a disorder of the nervous system. Until recently the diagnosis depended on clinical features and ct or mri abnormalities in the globus pallidus. Hallervordenspatz syndrome definition of hallervorden. Hallervorden spatz disease hsd is a rare autosomal recessive neurodegenerative disorder with aberrant iron metabolism in the brain, first described by hallervorden and spatz in 1922.
Characteristic clinical findings of the late infantile type are a gradual onset with gait disturbance, corticospinal tract signs, rigidity and dystonia. Neurodegeneration with brain iron accumulation nbia is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. The condition was previously named after two 20 th century german neuropathologists julius hallervorden 18821965 and, his superior, hugo spatz 18881969 1,12 julius hallervorden personally examined 697 brains from disabled adults and children who had been murdered as part of the nazi euthanasia program at the kaiserwilhelminstitut fur. The neuropathology showed findings typical of hallervordenspatz disease. The onset can be in children, adolescents and adults and may be familial or sporadic 4, 6, 7. Pdf hallervordenspatz disease serefnur ozturk academia. A ninemonthold infant presented with fever and loss of milestones. Axonal spheroids are characteristic of the disease, and many of these expansions give a positive iron reaction.
Pantothenate kinaseassociated neurodegeneration wikipedia. The hallervordenspatz syndrome hss is a rare condition characterized by extrapyramidal and pyramidal signs, dystonia, dysarthria, retinal degeneration, dementia and a progressive course. Hallervorden spatz disease a slowly progressive condition which is now grouped with the socalled neurodegeneration with brain iron accumulation syndromes and characterised by progressive degeneration of neural function with loss of ambulation up to 15 years after disease onset. Nov 12, 2019 hallervordenspatz disease now more commonly known as pantothenate kinase associated neurodegeneration pkan is a rare autosomal. Hallervorden and spatz reported a rapidly progressive neurodegenerative disease of early onset in a german journal of neurology and psychiatry in 1922. Mar 16, 2020 hallervorden spatz disease hsd is a genetic neurological disorder that causes problems with movement.
Hallervordenspatz syndrome is an autosomal recessive disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. To compare the mr findings of eight cases with clinical diagnosis of hallervorden. Disease onset is in later childhood, adolescence or adulthood age range. Other suggested names are neurodegeneration with brain iron accumulation type 1 or infantile neuroaxonal dystrophy. Hallervordenspatz disease now more commonly known as pantothenate kinase associated neurodegeneration pkan is a rare autosomal. Anesthesia for patients with pantothenatekinaseassociated. Jul 10, 2017 pantothenate kinaseassociated neurodegeneration pkan is a rare disease characterized by a progressive degeneration of the nervous system neurodegenerative disorder and buildup of iron in the brain. Pantothenate kinaseassociated neurodegeneration nord. It is considered that this case provides an unusually early and clearcut example of hallervordenspatz disease, and implies the status of the latter as a topographically unique form of primary axonal disease. Mar 27, 2019 neurodegeneration with brain iron accumulation nbia is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. The gene for the disease is on chromosome 20 in region 20pp12. Pdf hallervordenspatz disease hsd is a rare disorder characterized by progressive extrapyramidal dysfunction and dementia. Hallervordenspatz disease associated with atypical. Hallervordenspatz disease hsd is a rare genetic disorder.
A novel pantothenate kinase gene is defective in hallervorden spatz syndrome. It is characterized by childhood onset of extrapyramidal motor symptoms. Hallervordenspatz syndrome with seizures hallervordenspatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. Pantothenate kinaseassociated neurodegeneration pkan, formerly called hallervorden spatz syndrome, is a genetic degenerative disease of the brain that can lead to parkinsonism, dystonia, dementia, and ultimately death.
Purpose to compare the mr findings of eight cases with clinical diagnosis of hallervorden spatz disease hsd with the pathologic findings of two other cases of hsd. The two other cases with proven hsd had detailed histologic evaluation. A genetic disorder in which there is progressive neurologic degeneration with the accumulation of iron in the brain. It is characterized by progressive neurological dysfunction and loss of memory dementia. Aan members 800 8791960 or 612 9286000 international nonaan member subscribers 800 6383030 or 301 2232300 option 3, select 1. The characteristics of the condition were analyzed and compared with those cases considered by other authors to be affected by the condition. Sep 24, 2018 pantothenate kinaseassociated neurodegeneration pkan, formerly called hallervorden spatz disease hsd, is a rare disorder characterized by progressive extrapyramidal dysfunction and dementia. To compare the mr findings of eight cases with clinical diagnosis of. Mr and pathologic findings mario savoiardo,1 william c. We describe a child with pathologically proven hallervorden spatz disease.
The disease was first described in 1922 by two german physicians, hallervorden and spatz, as a form of familial brain degeneration characterized by. Hallervordenspatz disease hsd is a rare, progressive neurodegenerative disorder. Neurodegeneration with brain iron accumulation nbia are a group of very rare nervous system disorders. Hallervorden spatz disease is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. An estimated prevalence of 1,000,000 has been suggested based on observed cases in a population. Pantothenate kinaseassociated neurodegeneration pkan, formerly called hallervorden spatz syndrome, is a rare, inherited neurological movement disorder characterized by the progressive degeneration of specific regions in the central nervous system neurodegenerative disorder. Purpose to compare the mr findings of eight cases with clinical diagnosis of hallervordenspatz disease hsd with the pathologic findings of two other cases of hsd. Movement abnormalities include involuntary muscle spasms, rigidity, and trouble with walking that worsens. Pantothenate kinaseassociated neurodegeneration radiology. Definition of hallervordenspatz disease medicinenet. Mar 24, 2020 hallervordenspatz disease now more commonly known as pantothenate kinase associated neurodegeneration pkan is a rare autosomal.
Pantothenate kinaseassociated neurodegeneration pkan. One patient developed a gait disorder from 1 1 2 years of age, followed by deterioration of speech, severe torsion dystonia with opisthotonos, choreoathetosis of the limbs, and death at age 14. Hallervordenspatz syndrome, pank2, and the tigers eyes. Hallervordenspatz disease is compared to other types of axonal dystrophy, and mechanisms for the dystrophic process are postulated. In 1922, hallervorden and spatz described the syndrome and pathological findings that characterise the condition that bears their names. Know the causes, symptoms, treatment and diagnosis of hallervordenspatz disease. The first page of the pdf of this article appears above. Sep 21, 2019 hallervordenspatz syndrome is a rare neurodegenerative disease of autosomal recessive inheritance which presents in childhood or early adulthood with. Pkan is the most common type of neurodegeneration with brain iron. Pantothenate kinaseassociated neurodegeneration pkan, formerly called hallervorden spatz disease hsd, is a rare disorder characterized by progressive extrapyramidal dysfunction and dementia. The onset can be in children, adolescents and adults and may be familial or sporadic 4, 6, 7 the first description of this syndrome relies on the two german fellows.
Being an inherited disease, hallervordenspatz disease is caused by the defect in the pantothenate kinase 2 pank2 genes. Hallervorden and spatz first described the disease, in 1922 as a form of familial brain degeneration characterized by iron deposition in the brain. The syndrome was first described by julius hallervorden and hugo spatz in 1922 in 5 sisters who showed increasing dysarthria trouble speaking and. The in vivo diagnosis of hallervordenspatz disease is discussed in relation to the clinical manifestations and mri findings in two children examined at the department of paediatrics, university hospital of aarhus, denmark. Pantothenate kinaseassociated neurodegeneration pkan, also known as neurodegeneration with brain iron accumulation 1 nbia1, also called hallervordenspatz syndrome, is a degenerative disease of the.
An estimated prevalence of 1,000,000 has been suggested based on observed cases in. Examination revealed intermittent rigidity and dystonic movements. Hallervordenspatz syndrome is a rare neurodegenerative disease of autosomal recessive inheritance which presents in childhood or early adulthood with. Neurodegeneration with brain iron accumulation nbia, formerly hallervordenspatz syndrome encompasses a group of rare neurodegenerative disorders transmitted in an autosomal recessive fashion. Pantothenate kinaseassociated neurodegeneration rare disease. We report two patients with hallervordenspatz disease, who were diagnosed by same mr findings of marked low signal intensity in. Hallervorden spatz syndrome hss omim 234200 is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the basal. Neurodegeneration in pkan is accompanied by an excess of iron that progressively builds up in the brain. Spatz disease hsd is a rare, inherited, autosomal recessive neurodegenerative disorder associated with iron accumulation in the basal ganglia of the human brain 15.
Pantothenate kinaseassociated neurodegeneration formerly called hallervordenspatz syndrome is a disorder of the nervous system. The hallervorden spatz syndrome hss is a rare condition characterized by extrapyramidal and pyramidal signs, dystonia, dysarthria, retinal degeneration, dementia and a progressive course. Magnetic resonance imaging mri shows decreased signal intensity in globus pallidus and substantia nigra, indicative of iron deposition, suggesting hallervorden spatz disease. Hallervordenspatz disease and infantile neuroaxonal. Pantothenate kinaseassociated neurodegeneration orphanet. Materials and methods the eight imaged cases were studied with 0. Genetic, clinical, and radiographic delineation of. Neurodegeneration with brain iron accumulation nbia. Hallervordenspatz, nucleos basales, resonancia magnetica irm. Neurodegeneration with brain iron accumulation information. Pdf hallervordenspatz disease federico lopez academia. Pantothenate kinase associated neurodegeneration hallervorden. 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.
Neurodegeneration with brain iron accumulation nbia, formerly hallervorden spatz syndrome encompasses a group of rare neurodegenerative disorders transmitted in an autosomal recessive fashion. Hallervorden spatz disease is compared to other types of axonal dystrophy, and mechanisms for the dystrophic process are postulated. Jagadeesh vineet kishore hallervorden and spatz in 1922 described an autosomal recessive disorder in which there is progressive cns degeneration with predominant changes in the basal ganglia. It is considered that this case provides an unusually early and clearcut example of hallervorden spatz disease, and implies the status of the latter as a topographically unique form of primary axonal disease. The main clinical features are dystonia, dysarthria and rigidity, rapid progression, and early death. We had the opportunity to study a family, five of whose members were affected by the hallervordenspatz disease three males and twin girls.
Zhou b, westaway sk, levinson b, johnson ma, gischier j, hayflick sj. Hallervorden spatz disease, movement disorder, pantothenate kinase 2 deficiency. Pantothenate kinaseassociated neurodegeneration genetics. Hallervordenspatz disease hsd is a rare disorder characterized by progressive extrapyramidal dysfunction and dementia. Hallervorden spatz disease hsd is a rare disorder characterized by progressive extrapyramidal dysfunction and dementia.
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