天美传媒

Abstract

Macrocephaly - capillary malformation (M-MC) is a rare genetic disorder initially described in 1997. It is associated with a spectrum of abnormalities including macrocephaly, cerebral and body asymmetry, cutaneous vascular malformations and digital anomalies. It is one of several overgrowth syndromes known as the hypertrophic spectrum related to PIK3CA. Children with M-MC syndrome would also have a high cancer risk. Recent recommendations advocate regular abdominal ultrasounds up to eight years of age to detect Wilms tumor. There is no cure for this disease. Care is supportive care and varies depending on the symptoms and their severity. Physiotherapeutic and psychomotor care as well as orthopedic reinforcement can help young children in their overall motor development. Follow-up of an orthopedic surgeon may be necessary for differences in leg length due to hemi hypertrophy and body asymmetry. We report the first observation observed in pediatric medical emergencies of Rabat Children's Hospital with a review of the literature on the clinical, genetic and therapeutic aspects of this syndrome.

Keywords: Hypertrophy; Macrocephaly-capillary malformation; Cutis marmorata; PIK3CA gene