Hallervorden-Spatz syndrome is a rare neurodegenerative disease of autosomal recessive inheritance which presents in childhood or early adulthood with. Pantothenate kinase-associated neurodegeneration (PKAN), also known as neurodegeneration with brain iron accumulation 1 (NBIA1), also called Hallervorden–Spatz syndrome, is a degenerative disease of the. Hallervorden-Spatz syndrome was first described in by Drs. Julius Hallervorden and Hugo Spatz with their study of a family of 12 in which five sisters.

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We need long-term secure funding to provide you the information that you need at your fingertips. Clinical spectrum of Hallervorden-Spatz syndrome in India. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.

Pantothenate kinase-associated neurodegeneration | Radiology Reference Article |

This is especially seen in regions of the basal ganglia syndrom the globus pallidus and the substantia nigra. We are determined to keep this website freely accessible.

The nosology of Hallervorden-spatz disease. Wondering what to eat, how much, or just how to have a healthier relationship with food? Associated symptoms include progressive deterioration of cognitive abilities dementialoss of contact with reality psychosismood swings and loss of acquired motor skills. Author information Copyright and License information Disclaimer.

Neurologic examination for dystonia, rigidity, choreoathetsis, spasticity and speech should be conducted.

Hallervorden-Spatz disease

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MRI scans revealed small hyper intensity in the inner part of both GP, surrounded by the hypo-intense rim peripherally on T2 [ Figure 2 ]. Diagnostic considerations The differential diagnosis of HSD includes other diseases presenting with extrapyramidal-pyramidal-dementia complex.

The name Hallervorden-Spatz syndrome became discouraged and was replaced with neurodegeneration with brain iron accumulation because of concerns regarding Dr. Phenotypic Series Toggle Dropdown. Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration HARP syndrome. Both involuntary movements and rigidity may involve muscles supplied by cranial nerves, resulting in difficulties in articulation and swallowing.

Frequent contact with patients and treatment adjustments are required to maintain as high a quality of life as possible.

Clinical Synopsis Toggle Dropdown. Fucosidosis is a rare genetic disorder characterized by deficiency of the enzyme alpha-L-fucosidase, which is required to break down metabolize certain complex compounds e.

She was also noticed to keep her head persistently extended with mouth wide open and trunk arched backwards in an awkward manner simultaneously. These are both surgical techniques which destroy ablate very specific regions of the brain, the pallidus and thalamus, respectively. The diagnosis of PKAN is made based upon a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. Physicians that the family may work with include the pediatrician or internist, neurologist, ophthalmologist, physiatrist and geneticist.


In most cases, atypical disease progresses slowly over several years. All 5 sibs in the family originally studied by Hallervorden and Spatz died before age Together we are strong. However, this test is not yet widely hallervroden. MR imaging in a case of Hallervorden-Spatz disease. Clinically the condition is characterized by progressive rigidity, first in the lower and later in the upper extremities.


Physical examination revealed an average built young female with hypertrophy of both sternocleidomastoids.

Additional symptoms often develop including progressive cognitive impairment, muscle weakness, seizures and behavioral or personality changes. She had generalized rigidity. PKAN is inherited as an autosomal recessive genetic condition and is described as being classical or atypical.

They reported 2 unrelated adult patients with cognitive dysfunction who had the characteristic sign on MRI but did not have mutations in the PANK2 gene.

She had severe asymptomatic twisting tremor in hands.

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Baclofen in moderate doses relieves the stiffness and spasms and can reduce dystonia. National Center for Biotechnology InformationU.

Retrieved November 7, Onset is in the first or second decade and death usually occurs before the age of 30 years. Clinical heterogeneity in Hallervorden-Spatz syndrome: From Wikipedia, the free encyclopedia.