*Correspondence: leticialele.st@hotmail.com.
Abstract
Case Presentation: A 4-month-old boy was seen at the genetics outpatient clinic of a public tertiary
hospital in the state of Ceará with plagiocephaly, facial asymmetry, preauricular
appendage, congenital heart disease, and bilateral cryptorchidism. During the course
of treatment, the child underwent cardiac surgery and orchiopexy and experienced delayed
neurological development, learning disability, and febrile seizures at the ages of
6 and 7. Anthropometric data on weight, height, and cranial circumference were normal.
The child was the offspring of young, healthy, non-consanguineous parents. There were
no perinatal complications. Complementary exams showed an echocardiogram with anomalous
pulmonary vein total drainage, a CT scan of the cranium with plagiocephaly, normal
fundus and abdominal ultrasounds, a normal skeletal X-ray, and a 47XY karyotype with
a marker chromosome in 20 cells. A CGH-array was necessary to define the chromosomal
disorder, and the diagnosis was a dup 22q11.1q11.21. Genetic counseling was provided,
and karyotyping of the parents was requested, but due to difficulty accessing this
test, it was not performed. The child remains under multidisciplinary outpatient care.
Discussion: Dup 22q11.1-q11.21, Schmid-Fraccaro syndrome, or Cat-eye syndrome is a rare genetic
condition (1-9:100,000) that affects the development of the eyes, kidneys, heart,
and cranial bones due to additional material on chromosome 22. The clinical variability
is vast, making it impossible to determine the disease based on its clinical picture.
In the case presented here, the child does not have the signs and symptoms that typically
occur in this syndrome, probably due to the size of the duplicated genetic material.
Neurological impairment is common in these cases.
Final Comments: The etiological diagnosis of the presented case was possible through the application
of CGH-array. Molecular testing has contributed to the identification of cases of
congenital anomalies. Although this case is rare, it is common to have patients with
a requirement for CGH-array due to congenital anomalies associated with delayed neurological
development and/or learning disability.
