Klinefelter Syndrome and Corpus Callosum Agenesis

Excerpt

To the Editor: A 5-mo-old male infant was brought by parents as the antenatal ultrasound at 26 wk of gestation detected agenesis of corpus callosum and dilatation of bilateral lateral ventricles. This pregnancy was the first conception for the mother. It was a booked pregnancy with normal antenatal and perinatal periods. Routine antenatal investigations including the TORCH profile were normal. History for drug intake, antepartum hemorrhage, febrile illness, and radiation exposure, was negative. He was born at term with a birth weight of 3.2 kg. Physical examination at one month was unremarkable, except for slight axial and appendicular hypotonia. MRI brain confirmed fetal ultrasonography findings and revealed corpus callosal agenesis, dilatation of bilateral lateral ventricles with colpocephaly. Skeletal X-rays, ultrasonography of abdomen and echocardiogram were unremarkable. Karyotyping revealed 47, XXY karyotype, suggestive of Klinefelter syndrome (KS). …