Distinguishing hallervordenspatz syndrome from neuronal ceroidlipofuscinosis may be difficult. Short bowel syndrome spina bifida, meningocele, myelocele strabismus through age 10 subluxated eye lens in marfans syndrome supernumerary parts, severe. Diagnosis with an x are automatically eligible for the associated program. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126. The gene for the disease is on chromosome 20 in region 20pp12. Hallervordenspatz disease hsd is a genetic neurological disorder that causes problems with movement. Hallervordenspatz disease now more commonly known as. 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. Hallervordenspatz disease, including infusion pump paraplegia, traumatic, and its direct complications pectus carinatumpectus excavatum requiring. Pantothenate kinaseassociated neurodegeneration formerly called hallervordenspatz syndrome is a disorder of the nervous system. Formerly referred to as hallervordenspatz syndrome, the disorder was. 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. Files are available under licenses specified on their description page. Pantothenate kinaseassociated neurodegeneration formerly hallervordenspatz syndrome, the most prevalent form of neurodegeneration with brain iron accumulation, is a rare degenerative brain disease characterised by predominantly extrapyramidal dysfunction resulting from mutations in the pank2 pantothenate kinase 2 gene. The pank2 gene provides instructions for making an enzyme called pantothenate kinase 2. A genetic disorder in which there is progressive neurologic degeneration with the accumulation of iron in the brain. Pantothenate kinaseassociated neurodegeneration wikipedia. Along with julius hallervorden, he is credited with the discovery of hallervordenspatz syndrome now referred to as pantothenate kinaseassociated neurodegeneration.
Neurodegeneration with brain iron accumulation information. Patients have been observed with acanthocytes in their peripheral blood smears and with features of neuronal ceroidlipofuscinosis. Hallervorden spatz syndrome hss is a rare autosomal recessive neurodegenerative disorder with core pathological features of iron deposition in basal ganglia, axonal spheroids and gliosis of the pallidum and substantia nigra sn 1, 2. The disease is caused by mutations in gene encoding pantothenate kinase 2 pank2 and patients have pantothenate kinaseassociated neurodegeneration. Magnetic resonance imaging mri shows decreased signal intensity in globus pallidus and substantia nigra, indicative of iron deposition, suggesting hallervorden spatz disease. Halliday,2 nardo nardocci,3 liliana strada,1 ludovico dlncerti,1 lucia angelini,3 viviana rumi,3 and john d. However, his work as a pathologist during the third reich put him in close proximity with the. Hallervorden spatz disease hsd is a rare autosomal re cessive neurodegenerative disorder with aberrant iron metabo lism in the brain, first described by hallervorden and spatz. What links here related changes upload file special pages permanent link. Pdf hallervordenspatz disease hsd is a rare disorder characterized by progressive extrapyramidal dysfunction and dementia.
Here we present four hsd cases with different clinical pictures. Tongue protrusion dystonia is an uncommon focal dystonia involving the lingual muscles. Hallervorden and spatz first described the disease, in 1922 as a form of familial brain degeneration characterized by iron deposition in the brain. One showed the typical neuropathological lesions at death. Hallervordenspatz syndrome was first described in 1922 by two german.
Pharmacologic treatment of pkan is mainly based on iron chelation. Pdf hallervordenspatz syndrome is an autosomal recessive disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. Pantothenate kinaseassociated neurodegeneration pkan, formerly called hallervordenspatz syndrome, is a genetic degenerative disease of the brain. Examination revealed intermittent rigidity and dystonic movements. The father and mother, as well as two older sisters and one older brother of the patient are healthy. Clinical heterogeneity of neurodegeneration with brain iron. Pantothenate kinaseassociated neurodegeneration pkan. Mutations in pank2 can manifest into two categories with wide clinical variability.
Neurodegeneration with brain iron accumulation nbia are a group of very rare nervous system disorders. 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. Julius hallervordens important contribution to the practice of neuropathology over a long career cannot be underestimated. There is wide phenotypic variability, including classic pkan and atypical pkan. To compare the mr findings of eight cases with clinical diagnosis of. Hallervorden5 personnel file, hallervorden, at the historical archive of the. Hallervordenspatz disease hsd is a rare disorder characterized by progressive extrapyramidal dysfunction and dementia. The topic hallervordenspatz disease you are seeking is a synonym, or alternative name, or is closely related to the medical condition neurodegeneration with brain iron accumulation type 1 quick summary. Hallervorden spatz disease pantothenate kinaseassociated. Changes from as 1851 2005 and what effect these changes have. Neurodegeneration with brain iron accumulation nbia.
Hallervorden spatz syndrome pdf writer, indian interiors pdf. Hallervordenspatz syndrome definition of hallervorden. Hallervordenspatz syndrome is characterized by iron deposition in the globus pallidus, red nuclei and substantia nigra. The disease was first described in 1922 by two german physicians, hallervorden and spatz, as a form of familial brain degeneration characterized by. The eponym hallervordenspatz syndrome recalls julius hallervordens and hugo spatzs original description of this pediatric neurodegenerative disorder. Pantothenate kinaseassociated neurodegeneration pkan, formerly called hallervordenspatz disease hsd, is a rare disorder characterized by progressive extrapyramidal dysfunction and dementia. Two sisters with hallervordenspatz syndrome hss were treated with antiparkinson drugs.
Download wikipedia for android or ios save your favorite articles to read offline, sync your reading lists across devices and customize your reading experience with the official wikipedia app. For language access assistance, contact the ncats public information officer. Hallervordenspatz disease hsd is also known as neurodegeneration with brain iron accumulation or pantothenate kinaseassociated neurodegeneration. A diagnosis of hallervorden spatz was made based on clinical and mri findings. Currently, however, only symptomatic treatment of these disorders is possbile. Movement abnormalities include involuntary muscle spasms, rigidity. This has led to the term synucleinopathy to embrace this group of conditions. Hugo spatzs oberarzt senior resident or attending physician, 19371939, richard lindenberg, became chief neuropathologist of the state of maryland. Indeed, it has been suggested that hallervordenspatz syndrome is a form of neuronal ceroidlipofuscinosis.
Approved diagnostic codes for persons with related conditions effective october 1, 2019 to september 30, 2020 the following diagnostic codes are found in the international classification of diseases, tenth revision, clinical modification icd10cm, 2019, and are recognized by the health and human services commission hhsc as conditions. Wikipedia is hosted by the wikimedia foundation, a nonprofit organization that also hosts a range of other projects. Movement abnormalities include involuntary muscle spasms, rigidity, and trouble with walking that worsens. Pantothenate kinase associated neurodegeneration orphanet. None were examined postmortem by hallervorden, and no scientific publications were based on these specific patients j peiffer, personal communication. The surviving sister has been treated with an ironchelater without sustained effect, and with levodopa with improvement of motor abnormalities. Pkan previously known as hallervordenspatz syndrome is caused by mutations in pank2. Hallervorden spatz syndrome is a rare neurodegenerative disease of autosomal recessive inheritance which presents in childhood or early adulthood with. Not all individuals will fall into one of these two categories 1, 2. Hallervorden spatz disease now more commonly known as pantothenate kinase associated neurodegeneration pkan is a rare autosomal. This page was last edited on 6 october 2019, at 05. Child health programs eligibility conditions 20112012 note. 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.
Classic pkan causes symptoms in the first ten years of life. Declining use of the hallervordenspatz disease eponym in the. 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. 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. Mr and pathologic findings mario savoiardo,1 william c. Child health programs eligibility conditions 20112012. A ninemonthold infant presented with fever and loss of milestones.
The gcis of multiple system atrophy contain a range of other cytoskeletal proteins. This group of genetically heterogeneous progressive disorders includes nbia type i formerly hallervordenspatz syndrome, neuroferritinopathy, infantile neuroaxonal dystrophy1 inad1, and aceruloplasminemia table 1. Aceruloplasminemia siobhan green, 16, who is one of only 15 children in the uk with incurable hallervordenspatz syndrome, struggles to walk a yard and can barely speak. All structured data from the file and property namespaces is available under the creative commons cc0 license.
Diffusion tensor imaging in patients with hallervorden. Symptoms, which vary greatly among patients and usually develop during childhood, may include dystonia slow writhing. Approved diagnostic codes for persons with related conditions. Coenzyme a is found in all living cells, where it is essential for the. Pantothenate kinaseassociated neurodegeneration pkan, also known as neurodegeneration with brain iron accumulation 1 nbia1, also called hallervorden spatz syndrome, is a degenerative. This condition is characterized by progressive difficulty with movement, typically beginning in childhood. First cases in the czech republic of the hallervorden spatz disease resulting from mutation in the pantothenate kinase 2 gene case report no 2. Wikiproject medicine neurology rated startclass, midimportance this redirect is within the scope of wikiproject medicine. Abstract hallervorden spatz syndrome hss, also referred to as neurodegeneration with brain iron accumulation nbia, is a rare inherited. Pantothenate kinaseassociated neurodegeneration genetic. Its a rare but serious condition that worsens over time. In addition to these typical changes of hallervordenspatz disease hsd, abundant neurofibrillary tangles nfts were found within the.
The deposition of iron causes bilateral high signal intensity surrounded by a. Hallervordenspatz syndrome is a rare neurodegenerative disease of autosomal recessive inheritance which presents in childhood or early adulthood with dystonia, dysarthria, rigidity and choreoathetosis. Treatment aims to alleviate symptoms, including baclofen oral or intrathecal pump. We report a case of a 18 year old boy who presented with cervical dystonia, pigmentary retinal degeneration and mri brain showing the eyeofthetiger appearance. The code is valid for the year 2020 for the submission of hipaacovered transactions. The university of chicago genetic services laboratories. Sir, hallervordenspatz disease hsd is a rare neurological condition, caused by iron accumulation, which causes degeneration of the central nervous system. Hallervordenspatz syndrome with seizures hallervordenspatz syndrome is a disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain.
Nbia involves movement problems, dementia, and other nervous system symptoms. Helpful links the following links from other sources provide information on topics related to nbia and rare disorders, including assistive technologies, travel. Pantothenate kinaseassociated neurodegeneration in two. Pdf genetic, clinical, and radiographic delineation of. The treatment of patients with hellervorden spatz disease or pkan is mostly symptomatic. Dementia is progressive, and no treatment has proved clearly effective. First cases in the czech republic of the hallervorden. There has been a movement to rename hallervordenspatz disease to. Here we present an unusual case of atypical hallervordenspatz. Neurodegeneration in pkan is accompanied by an excess of iron that progressively builds up in the brain.
This enzyme is active in specialized cellular structures called mitochondria, which are the cells energyproducing centers. Now that the pank2 gene has been identified, the term pkan is preferred. Within mitochondria, pantothenate kinase 2 regulates the formation of a molecule called coenzyme a. Hallervordenspatz syndrome is a disorder characterized by dystonia, parkinsonism, and. Causes of tongue protrusion dystonia include tardive dystonia, posthypoxic dystonia, neuroacanthocytosis, pantothenate kinaseassociated neurodegeneration, and. Hallervorden spatz disease is a rare disorder characterized by progressive extrapyramidal dysfunction. First cases in the czech republic of the hallervordenspatz disease resulting from mutation in the pantothenate kinase 2 gene case report no 2.
Novel histopathologic findings in molecularlyconfirmed. If you have problems viewing pdf files, download the latest version of adobe reader. A heredofamilial syndrome, inherited as an autosomal recessive trait. Hallervordenspatz disease hsd is a rare disorder characterized. Please visit the project page for details or ask questions at wikipedia. Classic pkan is associated with early onset 34 years of age, rapid progression, impaired gait, restricted. The syndrome was first described by julius hallervorden and hugo spatz in 1922 in 5 sisters who showed increasing dysarthria trouble speaking and. Nbia disorders association genetic and rare diseases.
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