Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea

Abstract

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, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features. We have also reviewed recently published reports and the diagnostic criteria proposed by various authors in order to facilitate the clinical diagnosis of these children in pediatric neurology clinics.

PIK3CA-related overgrowth with an uncommon phenotype: case report

“…In fact, in addition to the most typical features of MCAP, we observed a bilateral hypopigmented, linear skin lesions on her lower limbs. This feature has been described only by Choi et al in a Korean female diagnosed with MCAP on the basis of clinical and neuroradiological findings, but without confirmation with genetic investigation [ 14 ]. Mathew et al described a case of FAO with blaschkoid hypopigmentation on the neck which was found to be unrelated to the overgrowth [ 15 ].…”

Genetic Disorders Underlying Polyhydramnios and Congenital Hypotonia: Three Case Reports and a Review of the Literature

“…Somatic pathogenic variants of the PIK3CA gene have been identified in a group of heterogeneous disorders characterized by overgrowth phenotypes, referred to as PIK3CA-related overgrowth spectrum (PROS) [ 12 ]. Although this patient did not fulfill the clinical criteria for megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), an overgrowth syndrome included in PROS, he demonstrated macrocephaly, ventriculomegaly, and severe hypotonia, features described in the above syndrome [ 13 ].…”

Pré-escolar com Síndrome de Megalencefalia – má formação capilar (MCAP): relato de caso

“…As síndromes de supercrescimento (overgrowth syndromes -OS) compreendem um grupo heterogêneo de condições caracterizadas pela proliferação excessiva de diversos tecidos, levando ao crescimento generalizado ou segmentar e simétrico ou assimétrico dos mesmos 10,14,15 .…”