Should we think of Urbach-Wiethe disease in refractory epilepsy? Case report and review of the literature.
Urbach-Wiethe disease (UWD) is an autosomal recessive disease characterized by both neurological and dermatological manifestations. Face specially eyelids are commonly involved. Alopecia, nail dystrophy and dental anomalies have been reported as less frequent symptoms. Some patients show evidences of epilepsy and psychiatric symptoms such as schizophrenia, mood disorders, and anxiety due to calcium deposits in different parts of the brain. In this report, we describe the case of a young woman affected by UWD presenting with neurological involvements and no dermatological manifestations. This patient is a unique case of UWD as she has partial seizures and hoarseness. Also we summarize relevant data from the literature.
Department of neurology, Imam Khomeini hospital, Faculty of Medicine, Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran.
Hossein Ghelichnia
HG
Omrani
Masih
M
Tajdini
Babak
B
Ghelichnia
Seyed Mohammad Reza
SM
Hosseini
Abbas
A
Tafakhori
Elham
E
Rahimian
Vajiheh
V
Aghamollaii
D000293:Adolescent; D003937:Diagnosis, Differential; D004351:Drug Resistance; D004827:Epilepsy / Q000175:diagnosis*; D020938:Epilepsy, Partial, Motor / Q000150:complications / Q000175:diagnosis; D005260:Female; D006685:Hoarseness / Q000150:complications / Q000175:diagnosis; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000150:complications / Q000175:diagnosis*