ASSOCIATION OF PARIETO-OCCIPITAL POLYMICROGYRIA, CHIARI MALFORMATION TYPE 1 AND SYRINGOMYELIA

Objectives: To describe an unusual association of parieto-occipital polymicrogyria, Chiari malformation type 1 and syringomyelia.

Methods: This 6 year old girl who was first evaluated at the neurogenetic clinic because of delayed walking. She was born after 34 weeks of gestation; her birth weight was 1870 grams. During the neonatal period she suffered from severe necrotizing enterocolitis following malrotation and underwent resection of the ischemic bowel. She suffers since infancy from severe intestinal dysmotility and is fed by a continuous drip through a jejunostomy. Motor development was delayed and she started walking at the age of two and a half years. Cognitive development is normal.

Results: Brain MRI demonstrated a single typical round periventricular nodular heterotopia lateral to the temporal horn of the left lateral ventricle and extensive abnormal gray matter (Left >Right) extending anteriorly and superiorly from the medial occipital gyri towards and adjacent to the atria and posterior bodies of the lateral ventricles. This gray matter appears irregular and gyriform and commences in the occipital gyri, where it has the appearance of polymicrogyria. In addition there is a Chiari type1 malformation and a large multicystic syrinx from C6 to the end of the cord.

Conclusion: The association of parasagittal parieto-occipital polymicrogyria, Chiari malformation type 1 and syringomyelia has not been previously described. A disruption of genes active through early and mid gestation is speculated.