[MIM 602 501]

( megalencephaly-malformation capillary-polymicrogyria syndrome, macrocephaly-cutis marmorata telangiectatica congenita, MCM syndrome)

Rare: < 1/1.106. Part of the class of genetic syndromes associated with a localized overgrowth. In general, poradic mutation of the PIK3CA gene (3q26.32).

Clinical presentation:

-        prenatal gigantism

-        macrocephaly with a typical face: chubby facies, protruding forehead, nevus flammeus of the nose and/or  philtrum, facial asymmetry

-        hydrocephaly (Chiari malformation type I) (see this topic), neonatal hypotonia

-        brain (MRI) and body asymmetry

-        cutaneous vascular malformations combining plane hemangiomas and a  pink-red-purplish color sometimes necrotic or atrophic network at the level of the kin of the limbs, palms of hands and plants of feet, trunk (cutis marmorata telangiectatica); they are accentuated by crying.

-        anomalies of toes: syndactyly II and III, with or without polydactyly

-        a brain malformation: micropolygyria, cerebral and cerebellar asymmetry, herniation of the cerebellar tonsil

-        tissular dysplasia: skin, thick subcutaneous tissue, joint laxity

-        normal intelligence or moderate intellectual deficit

-        occasionally a complex cardiopathy with arrhythmias

Cancer risk estimated at 5-6%: leukemia, nephroblastoma, meningioma, retinoblastoma.

Franceschini diagnostic criteria: macrocephaly with at least two of the following anomalies: gigantism, capillary malformation, syndactyly/polydactyly, asymmetry.

Anesthetic implications:

large stature, echocardiography.

References : 

• Coste K, Sarret C, Cisse A, Delabaere A, Francannet C, Vanlieferinghen P. 
  Le syndrome macrocéphalie-malformation capillaire. Intérêt du diagnostic en période néonatale. 
  Arch Pédiatr 2012 ; 19 : 917-20.
• Martinez-Glez V., Romanelli V. et al. - Macrocephaly-capillary malformation : analysis of 13 patients and review of the diagnostic criteria. 
  Am J Med Genet Part A 2010; 152A : 3101-6.

Updated: January 2019