Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, w...

An infant with a large head (2.5 SDs above normal for weight and gender or above 99.6th centile for age) is a common clinical presentation. Usually, it is due to benign isolated macrocephaly or familial macrocephaly (FM) where some close family members are similarly affected(1); neither condition requires any further intervention. However, there are a few important underlying causes the clinici...

Older literature on infantile autism accompanied by mental retardation, focussed on epilepsy, cerebral palsy and microcephaly. Multiple adversity was needed to delay growth sufficiently to pruning of connection between Hippocampus and Singulum in its centre, SMA and inhibitory cells in Cerebellum in the synaptogenesis in infancy. Temporary macrocephaly was observed. Today, macrocephaly dominate...

A boy was diagnosed at age 10 months with megalencephalic leukoencephalopathy with subcortical cysts (MLC) based on progressive macrocephaly and characteristic MRI findings (figure, A–C). Over subsequent years, initial motor delays resolved and neurobehavioral difficulties were mild. On repeat MRI at 6 years (figure, D–F), only small areas of frontal and temporal white matter signal alteration ...

Bannayan-Riley-Ruvalcaba Syndrome is a rare condition caused by mutations in the PTEN gene. It displays association of multiple lipomas, macrocephaly, hemangiomas, hamartomatous intestinal polyposis, developmental delay and speckled pigmented maculae on the male genitalia. We report the case of a nine-month-old boy who had fast growing and progressive tumors for three months, macrocephaly and l...

Two siblings presented with a new phenotype consisting of fatal progressive macrocephaly and hypertrophic cardiomyopathy. Onset of symptoms started in both patients at the end of the first month of life with massive brain swelling causing macrocephaly and evolving to extensive brain destruction. Light microscopy of the lesions showed extensive small-vessel proliferation and gliosis. A distinct ...

Infantile macrocephaly has a myriad of causes including megalencephaly, intracranial mass, and CSF disturbance.1 An 8-week-old infant presented with increasing head circumference. Antenatal ultrasound was unremarkable, with biparietal diameter and head circumference on the 50th centile at 20 weeks’ gestation. At birth, head circumference was on the 90th centile; no other abnormalities were reco...