ISSN: 2476-2024

Diagnostic Pathology: Open Access
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  • Case Report   
  • Diagn Pathol Open,
  • DOI: 10.4172/2476-2024.1000136

Macropephaly-Cutis Marmorata: Case Report and Review of Literature

Azzeddine Laaraje1,2*, Nour Mekaoui1,2, Lamiae Karboubi1,2 and Badr Sououd Benjelloun Dakhama1,2
1Pediatric Medical Emergencies, Children’s Hospital, University Hospital Center Ibn Sina, , Morocco
2Faculty of Medicine and Pharmacy, University Mohammed V- Souissi of Rabat, , Morocco
*Corresponding Author : Azzeddine Laaraje, Pediatric Medical Emergencies, Children’s Hospital, University Hospital Center Ibn Sina, Morocco, Tel: +212661398740, Email: laaraje85@yahoo.fr

Received Date: Mar 04, 2017 / Accepted Date: Mar 22, 2018 / Published Date: Mar 27, 2018

Abstract

Macrocephaly - capillary malformation (M-MC) is a rare genetic disorder initially described in 1997. It is associated with a spectrum of abnormalities including macrocephaly, cerebral and body asymmetry, cutaneous vascular malformations and digital anomalies. It is one of several overgrowth syndromes known as the hypertrophic spectrum related to PIK3CA. Children with M-MC syndrome would also have a high cancer risk. Recent recommendations advocate regular abdominal ultrasounds up to eight years of age to detect Wilms tumor. There is no cure for this disease. Care is supportive care and varies depending on the symptoms and their severity. Physiotherapeutic and psychomotor care as well as orthopedic reinforcement can help young children in their overall motor development. Follow-up of an orthopedic surgeon may be necessary for differences in leg length due to hemi hypertrophy and body asymmetry. We report the first observation observed in pediatric medical emergencies of Rabat Children's Hospital with a review of the literature on the clinical, genetic and therapeutic aspects of this syndrome.

Keywords: Hypertrophy; Macrocephaly-capillary malformation; Cutis marmorata; PIK3CA gene

Citation: Laaraje A, Mekaoui N, Karboubi L, Dakhama BSB. (2018) Macropephaly-Cutis Marmorata: Case Report and Review of Literature. Diagn Pathol Open 3: 136. Doi: 10.4172/2476-2024.1000136

Copyright: © 2018 Laaraje A, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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