Open AccessTHE CLINICAL CASES OF PALLISTER-KILLIANS’S SYNDROME IN A CHILD
Author(s) -
T. V. Sudovskaya,
Nina Sh. Kokoeva,
Yu. A Bobrovskaya,
A. A Makarova
Publication year - 2017
Publication title -
rossijskaâ pediatričeskaâ oftalʹmologiâ
Language(s) - English
Resource type - Journals
eISSN - 2412-432X
pISSN - 1993-1859
DOI - 10.18821/1993-1859-2017-12-3-163-165
Subject(s) - medicine , coloboma , microphthalmos , pathological , microphthalmia , palpebral fissure , kyphoscoliosis , optic nerve , anatomy , pathology , surgery , biochemistry , chemistry , scoliosis , gene
This article was designed to report a clinical case of a rare syndromic disease - Pallister-Killians’s syndrome characterized by the signs of mental deficiency, abnormal features of cranial bones , congenitally reduced arterial pressure, multiple abnormalities of the facial features (including the eyes and the mouth cavity), ears, skeleton, the cardiovascular system, nervous system, and other systems of the body. The syndrome was described for the first time in 1977 by Philip Pallister and thereafter investigated in more detail by Maria Teschler-Nicola and Wolfgang Killian in 1981. In our case, the somatic status of a 3 month-old child presenting with this pathological condition was characterized by a large variety of congenital defects of the nervous system, including corpus collosum hypoxia, ischemic lesions of the brain tissue, bilateral subependymal pseudocysts, lenticulostriate agniopathies, and congenital heart failure. The pathological changes of the visual analyzer manifested themselves as unilateral grade 3 microphthalmos, sclerocornea, optic nerve disk coloboma, narrowing of the palpebral fissure, considerable decrease of the size of the conjunctival cavity in the absence of the appreciable alterations in the eye ball. Rehabilitation of the affected child with congenital microphthalmos included gradual ocular prosthetics and the treatment by the specialists of other medical professions.