Peripheral facial paralysis in a newborn with charge syndrome

Abstract

CHARGE Syndrome is a genetic disorder that affects many organs. Approximately two-thirds of the cases have CHD7 mutations. Most individuals with this syndrome have a coloboma in their eyes. Coloboma can be found in one or both eyes and may impair visual functions depending on its size and location. Moreover, patients with this syndrome often have cranial nerve abnormalities. In this infant, peripheral facial paralysis was detected in addition to the eye coloboma, choanal atresia, heart defects, growth retardation, and ear anomalies, which are the main characteristic findings of CHARGE Syndrome. The chorioretinal coloboma in our case was present in both eyes and included optic discs. He had findings such as facial weakness on the left side, lagophthalmos, and flattening of the nasolabial fold due to peripheral facial paralysis. Lubrication therapy and eye closure treatment at night were started to protect the corneas of this patient. The cases with CHARGE Syndrome should be kept under ophthalmologic control against the risk of retinal detachment, amblyopia, and refractive errors that may occur in the future. We should be careful about the VII., VIII., IX. and X. cranial nerves dysfunctions which cause severe morbidity such as lagophthalmos, deafness, the difficulty of feedings in these cases.