Cerebellar atrophy in a child with hereditary methemoglobinemia type II

Carlo Fusco; Giuliana Soncini; Daniele Frattini; Elvio Della Giustina; Cristina Vercellati; Elisa Fermo; Paola Bianchi

doi:10.1016/j.braindev.2010.06.015

Cerebellar atrophy in a child with hereditary methemoglobinemia type II

Carlo Fusco, Giuliana Soncini, Daniele Frattini, Elvio Della Giustina, Cristina Vercellati, Elisa Fermo, Paola Bianchi

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	357-360
Number of pages	4
Journal	Brain and Development
Volume	33
Issue number	4
DOIs	https://doi.org/10.1016/j.braindev.2010.06.015
Publication status	Published - Apr 2011

Keywords

Cerebellar atrophy
Hereditary methemoglobinemia
Movement disorders

ASJC Scopus subject areas

Clinical Neurology
Developmental Neuroscience
Pediatrics, Perinatology, and Child Health

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10.1016/j.braindev.2010.06.015

Cite this

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abstract = "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.",

keywords = "Cerebellar atrophy, Hereditary methemoglobinemia, Movement disorders",

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AU - Fusco, Carlo

AU - Soncini, Giuliana

AU - Frattini, Daniele

AU - Giustina, Elvio Della

AU - Vercellati, Cristina

AU - Fermo, Elisa

AU - Bianchi, Paola

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N2 - 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.

AB - 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.

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KW - Hereditary methemoglobinemia

KW - Movement disorders

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Cerebellar atrophy in a child with hereditary methemoglobinemia type II

Abstract

Keywords

ASJC Scopus subject areas

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