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 | |
| Publication status | Published - Apr 2011 |
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Keywords
- Cerebellar atrophy
- Hereditary methemoglobinemia
- Movement disorders
ASJC Scopus subject areas
- Clinical Neurology
- Developmental Neuroscience
- Pediatrics, Perinatology, and Child Health
Cite this
Cerebellar atrophy in a child with hereditary methemoglobinemia type II. / Fusco, Carlo; Soncini, Giuliana; Frattini, Daniele; Giustina, Elvio Della; Vercellati, Cristina; Fermo, Elisa; Bianchi, Paola.
In: Brain and Development, Vol. 33, No. 4, 04.2011, p. 357-360.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Cerebellar atrophy in a child with hereditary methemoglobinemia type II
AU - Fusco, Carlo
AU - Soncini, Giuliana
AU - Frattini, Daniele
AU - Giustina, Elvio Della
AU - Vercellati, Cristina
AU - Fermo, Elisa
AU - Bianchi, Paola
PY - 2011/4
Y1 - 2011/4
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.
KW - Cerebellar atrophy
KW - Hereditary methemoglobinemia
KW - Movement disorders
UR - http://www.scopus.com/inward/record.url?scp=79952313855&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=79952313855&partnerID=8YFLogxK
U2 - 10.1016/j.braindev.2010.06.015
DO - 10.1016/j.braindev.2010.06.015
M3 - Article
VL - 33
SP - 357
EP - 360
JO - Brain and Development
JF - Brain and Development
SN - 0387-7604
IS - 4
ER -