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[Walker-Warburg syndrome in adulthood?].
J M Rohrbach1, T Schlote, H Strik
1Universitäts-Augenklinik, Abt. I, Tübingen.
Klinische Monatsblatter Fur Augenheilkunde
|May 23, 2000
Summary
Walker-Warburg Syndrome (WWS), a usually lethal condition, was diagnosed in a 70-year-old adult, presenting with mild brain and eye malformations. This case highlights WWS
Area of Science:
- Neurology
- Ophthalmology
- Genetics
Background:
- Walker-Warburg Syndrome (WWS) is a severe congenital disorder characterized by brain malformations, eye abnormalities, and muscle dystrophy, typically leading to early mortality.
- Existing literature lacks reports of WWS in adult patients, with most cases being lethal within the first year of life.
Observation:
- A 70-year-old female with a history of intellectual deficiency, seizures, and diabetes mellitus presented with respiratory infection and cardiorespiratory failure.
- Neuropathological examination revealed lissencephaly and cerebellar malformation, consistent with WWS.
- Ocular findings included diabetic changes (iris pigment epithelium vacuolization, basement membrane thickening) and WWS-related malformations (Pars plicata deposits, Bruch's membrane drusen).
Findings:
- The patient was diagnosed with Walker-Warburg Syndrome based on clinical and extensive morphological findings.
- This case demonstrates a unique combination of congenital WWS-related malformations and acquired diabetic ocular changes.
- The cerebral and ocular malformations were relatively mild, contributing to the patient's advanced age and preserved visual orientation.
Implications:
- This case expands the known clinical spectrum of Walker-Warburg Syndrome into adulthood.
- It underscores the importance of considering WWS in adults with unexplained neurological and ophthalmological deficits.
- The co-occurrence of congenital malformations and diabetic complications in this case offers insights into the long-term management and progression of WWS.