Megalencephaly and polymicrogyria with polydactyly syndrome
Jun Tohyama1, Noriyuki Akasaka, Naka Saito
1Department of Pediatrics, Epilepsy Center, Nishi-Niigata Chuo National Hospital, and Department of Neurosurgery, Brain Research Institute, Niigata University, Japan. jtohyama@masa.go.jp
Pediatric Neurology
|August 7, 2007
Summary
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome presents with macrocephaly, polydactyly, and seizures. Visual disturbance from white matter abnormalities is a key feature.
Area of Science:
- Neurology
- Clinical Genetics
- Developmental Pediatrics
Background:
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is a rare genetic disorder.
- Understanding its clinical manifestations is crucial for diagnosis and management.
Observation:
- A 26-month-old Japanese girl presented with macrocephaly, polydactyly, and hydrocephalus detected prenatally.
- Clinical features included epileptic seizures, impaired vision, and profound global developmental delay.
Findings:
- Brain MRI revealed ventriculomegaly, cavum septi pellucidi et vergae, and generalized polymicrogyria.
- Normal cerebrospinal fluid circulation despite ventriculomegaly suggested non-obstructive hydrocephalus pathogenesis.
- Decreased white matter volume and occipital lobe abnormalities were noted, correlating with visual disturbances.
Implications:
- Visual disturbance due to white matter abnormalities is a significant characteristic of this syndrome.
- Further research into the genetic basis of this syndrome is warranted.
- Early identification of clinical features aids in comprehensive patient care.
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