Relapsing Devic's disease in a child
A previously healthy 10-year-old girl was admitted to our department for sudden loss of vision in her left eye. The best corrected visual acuity (BCVA) was counting fingers in the left eye and 1.0 (Snellen Chart) in the right eye. Fundoscopy revealed left optic disk swelling. Brain magnetic resonance imaging (MRI) was normal. Two months later acute severe visual acuity loss occured in her right eye combined with quadriparesis. Ophthalmic examination revealed bilateral impaired pupil response. Her BCVA was counting fingers in both eyes. Biomicroscopic examination was normal. Fundus examination showed right optic disc swelling with left optic atrophy []. On fluorescein angiography that was performed at the onset of her right eye's symptoms, a leakage was seen at the late phase of her right eye []. On systemic examination, her blood pressure was 90/65 mmHg, pulse rate 85/min, and axillary body temperature 36.7°C. Neurological examination revealed weakness of both upper and lower limbs. A bilateral positive babinski sign was noted. Other cranial nerves and cognitive functions were normal. Laboratory work-up revealed normal hematocrit, white blood cell counts, platelets, and erythrocyte sedimentation rate. Analysis of cerebrospinal fluid (CSF) revealed a clear colour, protein 44 mg/dl, and sugar 79.4 mg/dl. Oligoclonal bands were positive. Visual evoked potential (VEP) study showed prolongation of P100 latency and amplitude loss in both eyes []. Electroretinogram was normal. MRI revealed abnormalities of spinal cord signal and longitudinal syringomyelia cavity from bulbus to thoracal 9 with hypointensity in T1-weighted images and hyperintensity in T2-weighted images along the spinal cord as a result of longitudinally extensive myelitis []. The cerebral region was normal at the onset [-upper images]. But 3 months later a demyelination plaque was seen in the left posterior frontal lobe [-lower images]. NMO-specific serum autoantibody against the water channel aquaporin-4 (Aqp4) was positive. Mitochondrial G3460A, G11778A, T14484C mutations were negative and proper distinction of NMO from Leber's hereditary optic neuropathy was done. A diagnosis of Devic's disease was made and the patient was treated initially with intravenous methyl prednisolone (650 mg/day for six days) followed by gradually tapered oral steroids. One month later 2 mg/kg/day azathioprine was added. Pulse methyl prednisolone therapy was repeated three times totally but clinical outcome was not favorable with significant bilateral optic atrophy [].