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Titel:

Severe neurological impairment in hereditary methaemoglobinaemia type 2.

Dokumenttyp:
Case Reports; Journal Article
Autor(en):
Toelle, SP; Boltshauser, E; Mössner, E; Zurbriggen, K; Eber, S
Abstract:
Recessive congenital methaemoglobinaemia (RCM) due to NADH-cytochrome b5 reductase (cytb5r) deficiency is a very rare disorder. We report on two unrelated patients (4 and 2.5 years old) with RCM type 2. Developmental delay was obvious at the age of 4 months. On follow-up, both children showed severe tetraspastic cerebral palsy, profound cognitive impairment, strabismus, impressive secondary microcephaly and failure to thrive. One novel mutation in the DIA1gene was identified. Prenatal diagnosis...     »
Zeitschriftentitel:
Eur J Pediatr
Jahr:
2004
Band / Volume:
163
Heft / Issue:
4-5
Seitenangaben Beitrag:
207-9
Sprache:
eng
Volltext / DOI:
doi:10.1007/s00431-004-1409-x
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/14986124
Print-ISSN:
0340-6199
TUM Einrichtung:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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