CAse of the week
ASNR’s popular Case of the Week is a great way to check out interesting and educational cases. New cases are posted weekly on Twitter and archived on the site.
ASNR Case of the Week: Case 125
Hx: developmental delay and hemifacial macrosomia.
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrom (MCAP)
- Mechanism: Somatic mutation in PI3K-AKT related genes lead to disruption of cell signaling in vascular, limb, and brain development.
- Clinical Presentation: Variable but may include prenatal overgrowth, cutaneous vascular malformations, digital anomalies, connective tissue abnormalities, and brain and body asymmetry.
- Intracranial findings may include ventriculomegaly, hemimegalencephaly, hydrocephalus, polymicrogyria, cerebella tonsil ectopia, thickening of the corpus callosum, myelination abnormalities, septum pellucidum variants.
- Extracranial findings include fatty overgrowth ipsilateral to hemimegalencephaly, limb hypertrophy with leg lenght discrepancy, syndactyly, and vascular malformations.
- Treatment- Approved therapies involve targeting the PI3K mutation (Alpelisib)
- Differential Diagnosis:
- Dyke-Davidoff-Masson syndrom, Sturge Weber syndrome
- Article Reference link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177701/
- Case was confirmed with genetic testing for PIK3CA mutation