title: [Lowe syndrome: report of one case].
abstract: The Lowe syndrome, or oculocerebrorenal syndrome, is a rare X-linked recessive hereditary disease which typically involves three major systems including ocular defects (congenital cataracts, glaucoma, searching nystagmus), central nervous system defects (generalized hypotonia with decreased or absent deep tendon reflex and severe mental retardation), and renal dysfunction (progressive renal tubular dysfunction with acidosis and hyperaminoaciduria). Less than 200 cases have been reported in the English literatures since 1952. This article presents the first case of Lowe syndrome in Taiwan. Patient was a newborn who was born with congenital cataracts, glaucoma, generalized hypotonia with areflexia. In following laboratory studies showed early manifestations of renal tubular dysfunction with metabolic acidosis, proteinuria, glycosuria, phosphaturia and generalized hyperaminoaciduria (19 types). CT of brain showed an arachnoid cyst about 4.5 x 5 cm in size below the cerebellar tentorium. Large amount of copper, about 20-30 times above normal range, was detected in the urine. To our knowledge, Lowe syndrome associated with hypercupriuria and arachnoid cyst has not been reported in the past. Whether hypercupriuria is a part of the entity of this disease or prodromal stage of Wilson's disease is obscure. Further investigation and long-term observation are necessary to draw any conclusion.
authors.affiliation: Department of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan, R.O.C.
authors.forename: C L
authors.initials: CL
authors.lastname: Wang
authors.forename: C Y
authors.initials: CY
authors.lastname: Liu
authors.forename: Y S
authors.initials: YS
authors.lastname: Yuh
authors.forename: M L
authors.initials: ML
authors.lastname: Chu
mesh_terms: D016080:Arachnoid Cysts / Q000150:complications; D003300:Copper / Q000652:urine; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D011296:Prenatal Diagnosis
chemical_list: D003300:Copper