August 1, 2019 posted by

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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Journal List Adv Biomed Res v.

Orphanet: Pantothenate kinase associated neurodegeneration

Brief biographical entries on Spatz and Hallervorden make an interesting reading 1. If other family members are also affected, this may help determine the synrome. Racial hygiene, active euthanasia, and Julius Hallervorden. In all patients with classic or atypical PKAN, T2-weighted MRI of the brain showed a specific pattern of hyperintensity within the hypointense medial globus pallidus.

Neurological examination revealed hyper-extension in neck muscles and because of that she was hallerborden to look downward. No tremors or choreoathetotic movements were seen. Eigenartige Erkrankung im extrapyramidalen System mit besonderer Beteiligung des Globus pallidus und der Substantia nigra.: Laboratory investigations including serum copper and ceruloplasmin levels were normal.

The authors suggested that a larger series of patients with Hallervorden-Spatz disease should be studied ophthalmologically nallervorden exclude the coincidental occurrence of optic atrophy in a patient with otherwise typical Hallervorden-Spatz disease. All the abnormal movements subsided during sleep. You can also scroll through stacks with your mouse wheel or the keyboard arrow keys.


Hallervorden-Spatz disease

Additional symptoms often develop including progressive cognitive impairment, muscle weakness, seizures and behavioral or personality changes. The hypointensity on T2 weighted image is because of iron deposition and central hyperintensity is secondary to gliosis and spongiosis. Classical PKAN spqtz in the first ten years of life average age for developing symptoms is three and a half years. Other disorders to be considered in a differential diagnosis include: All studies receiving U.

Radionuclide scan reveals increased uptake of iron by the basal ganglia. She had severe asymptomatic twisting tremor in hands. The Founders of Child Neurology. The PANK2 gene also encodes a Our patient had hypertrophied sternomastoid muscles because of persistent cervical dystonia.

Patient showed evidence of extrapyramidal and corticospinal symdrome involvement. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. She has positive family history for nearly similar symptoms in her cousin. If you suspect you have HSD, discuss this concern with your doctor. The risk is the same for males and females.

Hallervorden-Spatz syndrome: a rare cause of extrapyramidal manifestations

Neurology of Hereditary Metabolic Diseases in Childhood. In cases of neurodegeneration with brain iron accumulation NBIA that are not caused by PKAN, the movement-related symptoms such as dystonia may be very similar.


Parkinson disease is a slowly progressive neurologic condition characterized by involuntary trembling tremormuscular stiffness or inflexibility rigidityslowness of movement and difficulty carrying out voluntary movements. These medications can be taken orally.

Hallervorden-Spatz disease

The disease is progressive and, if left untreated, it may cause liver hepatic disease, central nervous system dysfunction, and death. This disorder affects the muscular tone and voluntary movements progressively, making coordinated movements and chewing and swallowing almost impossible. The dopamine-neuromelanine system may be involved in the basic pathogenesis. Neurodegeneration with Brain Iron Accumulation. Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent.

Optic atrophy as the presenting sign in Hallervorden-Spatz syndrome. Axonal spheroids were found in the globus pallidus, substantia nigra, medulla, and spinal cord. Health care resources for this disease Expert centres Diagnostic tests 51 Patient organisations 54 Orphan drug s 3.