Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.
نویسندگان
چکیده
Megalencephaly (MEG), or enlargement of the brain, can either represent a familial variant with normal cerebral structure, or a rare brain malformation associated with developmental delay and neurological problems. MEG has been split into two subtypes: anatomical and metabolic. The latter features a build-up inside the cells owing to metabolic causes. Anatomical MEG has been detected in many different conditions, including many overgrowth syndromes. In 2004 Mirzaa et al. reported five non-consanguineous patients with a new MCA/MR syndrome characterized by severe congenital MEG with polymicrogyria (PMG), postaxial polydactyly (POLY) and hydrocephalus (HYD). The authors argued that these findings identified a new and distinct malformation syndrome, which they named MPPH. We report on a new case of MPPH, the first to be described after the original series (Mirzaa et al., 2004).
منابع مشابه
Syndrome of megalencephaly, polydactyly, and polymicrogyria lacking frank hydrocephalus, with associated MR imaging findings.
Megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome has been recently recognized and is very rare. Each case reported so far has demonstrated hydrocephalus to varying degrees. We report an infant with MPPH syndrome, but lacking frank hydrocephalus. The additional finding of an abnormally elongated pituitary infundibulum has not been described in this syndrome and, alo...
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عنوان ژورنال:
- Neuropediatrics
دوره 38 4 شماره
صفحات -
تاریخ انتشار 2007