TITLE:
Proteus Syndrome: About Two Paediatrics Cases
AUTHORS:
Senkaye-Lagom Aimée Kissou, Aïda Tankoano, Ollo Roland Somé, Amina Nomtondo Ouédraogo, Patrick Wendpouiré Hamed Dakouré, Zakary Nikiema, Boubacar Nacro
KEYWORDS:
Proteus, Growth Abnormalities, Cutaneous Signs, Vascular Abnormalities
JOURNAL NAME:
Open Journal of Pediatrics,
Vol.8 No.1,
March
8,
2018
ABSTRACT: Proteus syndrome (PS) is a rare pathology
characterized by mosaic and progressive hypertrophies, that can affect any
organ or tissue of the body. A genetic mutation in the embryo is at the origin
of the disease. Bones, fat, skin and connective tissue are the tissues most
typically involved. The extent and severity of the abnormalities vary, giving
different clinical presentations. The authors report two cases in two boys aged
three and eight years respectively. In both, segmental and organ growth
abnormalities, skin abnormalities and lipomas were present. The youngest
patient was admitted for the management of severe malnutrition. He presented a
major excrescence in the gluteal region, which required surgical management
mainly because of its functional impact. In the second patient who was
hospitalized following a viral meningoencephalitis, important vascular
abnormalities were demonstrated, particularly at the cerebral and abdominal
level. The clinical presentation was more severe in the latter, with the
installation of an extended coma and a comitial state. PS is a pathology which could be incapacitating. It
exposes to a high risk of benign tumours and deep venous thrombosis. The
variability of abnormalities and the risks incurred required multidisciplinary
management.