Macrocephaly with cutis marmorata telangiectatica congenita: Appending a case in literaure

Abstract

Macrocephaly with cutis marmorata telangiectatica congenita (M-CMTC) is a cutaneous disorder often accompanied by additional anomalies, most commonly segmental overgrowth. Recently, a clinically discrete condition has been described comprising CMTC and congenital macrocephaly together with pre- and post-natal macrosomia, segmental overgrowth, central nervous system malformations, connective tissue abnormalities, and intellectual handicap. We describe the natural history of M-CMTC syndrome of an 11-month-old female child first born of nonconsanguinous marraige brought to us with complaints of delayed development, asymmetric swelling over the body, and progressively increasing head size. On examination, we found macrocephaly, frontal bossing, segmental hypertrophy of right side of face, left side of upper limb and right side of lower limb, multiple hemangiomas over philtrum and nape of neck, cutis marmorata over bilateral upper limbs, hypotonia, laryngomalacia, bilateral syndactyly, hyperextensibility of joints, and magnetic resonance imaging showing arrested hydrocephalus; all these features fitting into a rare disorder known as M-CMTC. M-CMTC is a multisystem disorder and a team of specialist pediatrics, dermatology, neurology and radiology is needed to diagnose and treat such patients.