| Autor: |
Zamora TG; Department of Pediatrics, University of Minnesota Amplatz Children's Hospital, Minneapolis, Minnesota, USA., Roberts KD |
| Jazyk: |
angličtina |
| Zdroj: |
BMJ case reports [BMJ Case Rep] 2013 Oct 03; Vol. 2013. Date of Electronic Publication: 2013 Oct 03. |
| DOI: |
10.1136/bcr-2012-007826 |
| Abstrakt: |
A male infant was born by emergent caesarean section at 39 weeks gestational age secondary to maternal and fetal distress. Initial physical examination was notable for macrocephaly (greater than+2SD), postaxial polydactyly of the hands and facial dysmorphism. Head imaging demonstrated diffuse polymicrogyria without hydrocephalus. All findings were consistent with a diagnosis of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome. At the 4-year follow-up, megalencephaly persisted without evidence of hydrocephalus. The child was severely delayed with a stable seizure disorder controlled with dual antiepileptic therapy. This case meets the classic criteria for MPPH syndrome, adding to the limited experience with this disease. The 4-year follow-up and absence of hydrocephalus, once thought to be a key diagnostic criterion, adds to our understanding of the long-term sequelae. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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