Absence of growth hormone in a child with cat-eye syndrome

Background: The cat-eye syndrome (CES, Schmid-Fracarro syndrome) is a very rare syndrome involving Chromosome 22 (partial trisomy or tetrasomy). The syndrome is characterized by a variety of malformations with typically coloboma of the iris and malformations of the ears, the gastrointestinal tract, the kidneys and the heart associated with a short stature. Often one finds a mild to moderate metal retardation, severe retardations are very rare.

Case report: We present the case of a three year old girl with the typical clinical features of the cat-eye syndrome and a partial trisomy of chromosome 22. With the exception of a pronounced growth and mild mental retardation the first two years of life passed without major complications. At the age of two she suffered from severe and prolonged seizures associated with very low glucose levels in the blood and spinal fluid. Following this episode she showed very slow mental development. The electroencephalogramm showed hypsarrythmias, the MR scan displayed the typical signs of cerebral damage following severy hypoglycemia. Furthter exams displayed an isolated absence of growth hormone and a sceletal age of only nine month.

Conclusion: Short stature and a mild to moderate mental retardation are known to be present in children with cat-eye syndrome. Therefore, usually there is no need to test for growth hormone. We present the case of a toddler with cat-eye syndrome which suffered from hypoglycemic seizures due to the absence of growth hormone. This episode was followed by severe mental retardation, epileptic seizures and the loss of central vision.