Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.
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).
Garavelli
L
L
Department of Pediatrics and Genetic Unit, S. Maria Nuova Hospital, Reggio Emilia, Italy. garavelli.livia@asmn.re.it
Guareschi
E
E
Errico
S
S
Simoni
A
A
Bergonzini
P
P
Zollino
M
M
Gurrieri
F
F
Mancini
G M
GM
Schot
R
R
Van Der Spek
P J
PJ
Frigieri
G
G
Zonari
P
P
Albertini
E
E
Giustina
E Della
ED
Amarri
S
S
Banchini
G
G
Dobyns
W B
WB
Neri
G
G
D001921:Brain / Q000002:abnormalities*; D002658:Developmental Disabilities / Q000150:complications*; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000150:complications* / Q000473:pathology; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D054220:Malformations of Cortical Development / Q000150:complications* / Q000473:pathology; D017689:Polydactyly / Q000150:complications* / Q000473:pathology; D014057:Tomography, X-Ray Computed / Q000379:methods