Two Cases of Lowe Syndrome.
- Author:
Bong Seok CHOI
1
;
Yun Jin LEE
;
Su Eun PARK
;
Sang Ook NAM
Author Information
1. Department of Pediatrics, College of Medicine, Pusan National University, Busan, Korea. minambong@hanmail.net
- Publication Type:Case Report
- Keywords:
Lowe syndrome;
Cataract;
Proteinuria;
Developmental delay;
Seizure
- MeSH:
Anticonvulsants;
Cataract;
Cerebral Infarction;
Clone Cells;
Diagnosis;
Hemiplegia;
Humans;
Muscle Hypotonia;
Occipital Lobe;
Oculocerebrorenal Syndrome*;
Proteinuria;
Seizures
- From:
Journal of the Korean Child Neurology Society
2002;10(2):374-377
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Lowe syndrome is, also known as oculocerebrorenal syndrome, a rare X-linked disorder characterized by congenital cataract, hypotonia, developmental delay, cogntive impairment, renal tubular dysfunction, and growth retardation. Recently the defevtive gene, OCRL-1 encoding [PtdIns(4,5)P2] 5-phosphatase, was cloned with mutations identified in patients. The diagnosis is based on characteristic clinical manifestations involving three major systems. Two patients had the history of congenital cataract, proteinuria seizure and developmental delay. Patient 2 showed right side hemiplegia due to cerebral infarction of left occipital lobe. There are no specific therapies for this disorder yet, and we provided seizure therapy by antiepileptics.
