Autism spectrum disorder in a child with megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare disorder that arises as a result of a somatic mosaic mutation in the PIK3CA gene. It characteristically presents with postnatal or congenital megalencephaly, cutaneous capillary malformations, postaxial polydactyly and often segmental or focal body overgrowth. We report a 7-year-old boy with known MCAP who was diagnosed at around 10 months old with a mosaic change in the PIK3CA gene. He was found to have hall-mark clinical signs; macrocephaly and four-limb postaxial polydactyly. Since diagnosis, he has had multiple clinical features, most of which typically present in children with MCAP. He has now been diagnosed with autism spectrum disorder (ASD), demand avoidance and is under assessment for attention deficit hyperactivity disorder. Although some cases have been raised to the M-CM Network, to our knowledge this is the first case of ASD in MCAP to be reported in the literature.

Local Anesthesia Alone for Postaxial Polydactyly Surgery in Infants

Background: Surgical excision for postaxial polydactyly type B is advocated to avoid long-term complications. Excision with local anesthesia (LA) in infancy represents a safe and effective treatment for this condition, although general anesthesia (GA) is employed by many surgeons. We present a comparison of surgical outcomes, cost, and time between LA and GA to support widespread change in management. Methods: A retrospective review of patients under 12 months of age undergoing surgical polydactyly excision by a single surgeon was performed. Anesthesia type, patient demographics, and complications were recorded. Comparisons were made between LA and GA groups on procedure cost, operating time, length of stay (LOS), and time from procedure end to discharge. Stepwise forward regression was used to identify the best model for predicting total costs. Results: Ninety-one infants with a mean age of 3 months (±1.9) were examined; 51 (56%) underwent LA alone, 40 (44%) underwent GA. Mean operating time was 11.53 ± 4.36 minutes, with no difference observed between anesthesia groups ( P = .39). LA infants had a significantly shorter LOS (2.5 vs 3.5 hours; P < .05), quicker postoperative discharge (32 vs 65 minutes, P < .05), and fewer overall expenses, 2803 vs 6067 U.S. dollars (USD), P < .05. Two minor surgical complications (1 in each group) were reported. Conclusions: This study demonstrates significantly decreased cost, LOS, and time to discharge using LA alone for surgical excision of postaxial polydactyly type B. Results suggest the approach is quick, economical, and avoids the risks of GA in early infancy.