J Korean Child Neurol Soc.  2002 Nov;10(2):374-377.

Two Cases of Lowe Syndrome

• Choi BS
• Lee YJ
• Park SE
• Nam SO

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.

Keyword

Lowe syndrome; Cataract; Proteinuria; Developmental delay; Seizure

MeSH Terms

Anticonvulsants
Cataract
Cerebral Infarction
Clone Cells
Diagnosis
Hemiplegia
Humans
Muscle Hypotonia
Occipital Lobe
Oculocerebrorenal Syndrome*
Proteinuria
Seizures
Anticonvulsants