LOWE SENDROMLU BİR OLGUNUN DAVRANIŞ FENOTİPİNE YAKLAŞIM

Abstract

Background.­ The Lowe syndrome or oculocerebrorenal syndrome is a rare X linked recessive hereditary diseases which involves ocular defects, nervous system anomalies and renal dysfunction. The stubborness, temper tantrums and complex repetitive movements (stereotypy) are seen frequently in these patients. Whether these behavior patterns simply reflect the multiple disabilities found in some developmentally impaired irıdividuals with or without Lowe syndrome or is a specific genetically ­ determined behavioral phenotype of Lowe syndrome is unknown.

Observation.­ In this paper a 12­year old male patient with Lowe syndrome has been described with behavioral anomalies like stubborness, temper tantrums and stereotypic behaviours.