Short Communication
Elisabetta Grande
Abstract
Peters Plus Syndrome is a rare autosomic recessive disorder, clinically characterized by abnormal formation of various structures including anterior eye chamber, genitourinary tract, skeletal system and central nervous system. PPS is due to defective B3GALTL gene encoding for a glycosyl-transferase that plays a crucial role during embryogenesis. Here we report on a 12-year old boy affected by Peters Plus syndrome who showed peculiar additional features such as absence epilepsy and recurrent bacterial infections. Peters plus syndrome (PPS) is a rare autosomal recessive disorder mainly characterized by anterior chamber eye abnormalities (Peter’s anomaly) and rhizomelic limb shortening. Genitourinary tract and central nervous system (CNS) anomalies are also commonly reported. PPS is due to defective B3GALTL gene encoding a glycosyltransferase which plays a crucial role in embryogenesis. Here we report a boy affected by PPS associated with peculiar additional features such as absence seizures and recurrent bacterial meningitis. Clinical History First son of a primigravid woman, he was born at 40 weeks. Intrauterine growth restriction was observed during pregnancy. At birth, apgar indices were 8I /10V . Weight, length and head circumference were respectively at the 10th25th centile, below the 3rd centile and at 25th-50th centile. Physical examination showed dysmorphic features and bilateral corneal leukoma. Genetic and metabolic testing, including karyotyping, urinary organic acids and mucopolisaccharides, were normal.