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Cerebellar atrophy in a child with hereditary methemoglobinemia type II.

08:18 EDT 19th April 2014 | BioPortfolio

Summary of "Cerebellar atrophy in a child with hereditary methemoglobinemia type II."

We report the first case of a child with recessive hereditary methemoglobinemia type II with demonstrated cerebellar atrophy. This very rare blood disorder results in mild cyanosis, profound mental and motor impairment, and movement disorders in infancy and childhood. We suggest that children with unexplained severe encephalopathy and cerebellar atrophy should also be tested for hereditary methemoglobinemia type II.

Affiliation

Child Neurology Unit, Arcispedale Santa Maria Nuova, Viale Risorgimento, 80, 42100 Reggio Emilia, Italy.

Journal Details

This article was published in the following journal.

Name: Brain & development
ISSN: 1872-7131
Pages:

Links

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Medical and Biotech [MESH] Definitions

Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER).

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A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)

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