Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new
L Garavelli1, E Guareschi, S Errico
1Department of Pediatrics and Genetic Unit, S. Maria Nuova Hospital, Reggio Emilia, Italy. garavelli.livia@asmn.re.it
Abstract:
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).
Insights
Megalencephaly (MEG) can be a normal variant or a brain malformation. This study reports a new case of MPPH syndrome, a rare brain malformation with specific features.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Megalencephaly (MEG), or brain enlargement, presents as either a familial variant or a rare malformation with neurological issues.
- MEG subtypes include anatomical and metabolic, with anatomical MEG linked to overgrowth syndromes.
- The MPPH syndrome, characterized by specific congenital anomalies, was first described in 2004.
Observation:
- This report details a new patient diagnosed with MPPH syndrome.
- This is the first case described since the original 2004 report by Mirzaa et al.
- The patient exhibits features consistent with the MPPH syndrome diagnosis.
Findings:
- The study contributes to the understanding of MPPH syndrome by presenting a new case.
- This case reinforces the existence and distinctiveness of MPPH syndrome.
- Further characterization of MPPH syndrome is supported by this additional case.
Implications:
- This case aids in the diagnosis and understanding of rare brain malformation syndromes.
- Further research into MPPH syndrome can lead to improved genetic counseling and therapeutic strategies.
- Expanding the case series of MPPH syndrome is crucial for delineating its full spectrum and genetic basis.
