Macrocephaly - Cutis Marmorata Telangiectatica Congenita Syndrome with Congenital Glaucoma - A Case Report

Abstract

Congenital glaucoma is a rare ophthalmic  condition seen in patients with cutis marmorata telangiectatica congenita syndrome. We report a case of bilateral congenital glaucoma with associated cutaneous hemangiomas, a case of macrocephaly - cutis marmorata telangiectatica congenita syndrome (M-CMTC). A three year old girl presented with multiple episodes of seizures and hemiparesis since six months of age which was associated with macrocephaly and cutaneous hemangiomas over both sides of face, trunk and limbs. Neuro imaging was suggestive of cranial pial  angiomatosis. She was managed with anti-epileptics for the seizures. Eye examination showed bilateral hazy corneas, increased corneal diameter, raised intraocular pressure and glaucomatous optic discs. She underwent bilateral glaucoma filtration surgery following which pressures were controlled. Cutis marmorata telangiectatica congenital syndrome, a rare cutaneous and vascular anomaly is characterised by cutis marmorata, telangiectasia and phlebectasia. Regular              ophthalmological examinations are recommended especially when facial skin changes are seen.