Short communication Macrocephaly–capillary malformation syndrome: Three new cases Inusha Panigrahi b, ⁎, Mani Bhushan b , Mukesh Yadav a , Niranjan Khandelwal a , Pratibha Singhi b a Department of Pediatrics and Radiodiagnosis, Chandigarh-12, India b Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh-12, India abstract article info Article history: Received 10 August 2010 Received in revised form 24 September 2011 Accepted 28 September 2011 Available online 24 October 2011 Keywords: Macrocephaly–capillary malformation Macrocephaly–cutis marmorata telangiectatica congenita M–CMTC Megalencephaly–cutis marmorata telangiectatica congenita Asymmetry Developmental delay Overgrowth syndrome Port-wine stains Overgrowth syndromes can be associated with asymmetry, obesity and various vascular malformations. Macrocephaly–Capillary Malformation (M–CM) is a more recently defined overgrowth syndrome character- ized by cutaneous capillary malformation occurring in association with macrocephaly with tendency to progressive enlargement, abnormalities of somatic growth with body asymmetry including brain asymmetry, developmental delay, typical face with full cheeks, nevus flammeus of the nose and/or philtrum and upper lip, joint laxity, thickened subcutaneous tissue and 2/3 syndactyly of the toes. We evaluated three patients who demonstrated characteristic features of the disorder. Patients seen in the Genetic clinic of a tertiary care center were subjects of the analysis. We present three cases of overgrowth syndrome with common features of macrocephaly, capillary malformation, dysmorphic face and abnormal neurocognitive profile. These features are consistent with the newly defined M–CM syndrome. This condition must be differentiated from other overgrowth syndromes for appropriate surveillance for known complications and genetic counseling. We discuss the diagnostic criteria for the disorder and also recommend to include typical face with full cheeks, nevus flammeus of the nose and/or philtrum and upper lip, considering it as minor criterion on the basis of findings in present cases. One of the cases had bluish white iris which has not been described earlier. © 2011 Elsevier B.V. All rights reserved. 1. Introduction Macrocephaly capillary malformation (M–CM) syndrome formerly known as M–CMTC is an overgrowth syndrome with variable clinical presentation It is characterized by cutaneous capillary malformation in association with macrocephaly with tendency to progressive enlargement, anomalies of somatic growth with body asymmetry comprising brain asymmetry, developmental delay, typical face with full cheeks, nevus flammeus of the nose and/or philtrum and upper lip, joint laxity, thickened subcutaneous tissue and 2/3 syndactyly of the toes [1–5]. We present three cases of M–CM which add to the clinical spectrum of the syndrome. 2. Case report 2.1. Case 1 A 2 month old male child born full term by normal vaginal delivery was brought to the Genetic clinic with complaints of reddish lesions all over the body which since birth these were not increasing in size. Birth weight was 3.4 kg. There was no any history of bleeding manifestation or seizure. On examination, there were macrocephaly (OFC — 41 cm, N 2SD), prominent forehead, depressed nasal bridge, anteverted nostrils; short neck, cutis marmorata and reticulated port- wine stains (Fig. 1) all over the body. Palm and sole did not reveal any redness. There was no polydactyly, syndactyly or asymmetry of the body. On investigation, the hemoglobin was 5.8 g/dl, and coagulation profile was normal. RBC indices and peripheral blood smear indicated iron deficiency anemia for which baby was put on iron and folic acid supplementations. USG head showed hydrocephalus, and in USG abdomen there was mild hepatomegaly (span — 10 cm). On follow up at 6 months of age, he had developmental delay. The CT scan of head showed bilateral enlargement of the lateral and third ventricles and the temporal horns measured 11 mm on the right side and 8 mm on the left side. The csf spaces were normal. MRI of brain confirmed hydrocephalus with prominence of suprasellar and pineal recesses; and also revealed tonsillar herniation. There was calvarial hyperos- teosis. There were no T2 signal abnormalities. At 1 1/2 year he was able to stand with support and was able to speak monosyllables. On examination the most striking feature was large head with prominent forehead. Hyperextension of fingers and elbow joint was also present. 2.2. Case 2 A 10 year old female, was followed up as a case of facial dysmorph- ism with seizures in the Pediatric Neurology clinic. She had seizures since early childhood and was put on sodium valproate (25 mg/kg/ Journal of the Neurological Sciences 313 (2012) 178–181 ⁎ Corresponding author at: Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Center, PGIMER, Sec-12, Chandigarh, India. Tel.: +91 172 2755319; fax: +91 172 274 4401, 274 5078. E-mail address: inupan@yahoo.com (I. Panigrahi). 0022-510X/$ – see front matter © 2011 Elsevier B.V. All rights reserved. doi:10.1016/j.jns.2011.09.039 Contents lists available at SciVerse ScienceDirect Journal of the Neurological Sciences journal homepage: www.elsevier.com/locate/jns