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[Lowe syndrome: report of one case]
1Department of Pediatrics, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan, R.O.C.
Zhonghua Minguo Xiao Er Ke Yi Xue Hui Za Zhi [Journal]. Zhonghua Minguo Xiao Er Ke Yi Xue Hui
|January 1, 1993
Summary
This report details the first diagnosed case of Lowe syndrome in Taiwan, a rare genetic disorder affecting the eyes, brain, and kidneys. The patient presented with unique symptoms including hypercupriuria and an arachnoid cyst, requiring further study.
Area of Science:
- Genetics
- Pediatrics
- Ophthalmology
Background:
- Lowe syndrome (oculocerebrorenal syndrome) is a rare X-linked recessive disorder.
- It affects ocular, central nervous system, and renal systems.
- Fewer than 200 cases reported globally since 1952.
Observation:
- First reported case of Lowe syndrome in Taiwan.
- Newborn presented with congenital cataracts, glaucoma, hypotonia, and areflexia.
- Early renal tubular dysfunction, including metabolic acidosis, proteinuria, glycosuria, phosphaturia, and generalized hyperaminoaciduria (19 types).
Findings:
- Brain CT revealed a large arachnoid cyst.
- Urine analysis showed significantly elevated copper levels (hypercupriuria).
- This combination of Lowe syndrome with hypercupriuria and arachnoid cyst is unprecedented in medical literature.
Implications:
- Highlights the diverse clinical spectrum of Lowe syndrome.
- Raises questions about the relationship between hypercupriuria and Lowe syndrome, potentially differentiating from Wilson's disease.
- Underscores the need for further research and long-term patient monitoring.