Case 39-1998

Abstract

A 13-year-old right-handed girl was admitted to the hospital because of a relapsing-remitting neurologic disorder.She had had a normal childhood, although she was awkward at running, bicycle riding, and gymnastics. Twenty-six months before admission, she had an acute febrile episode with otitis, pharyngitis, headache, drowsiness, imbalance, and confusion. A magnetic resonance imaging (MRI) examination of the brain showed signal abnormalities in both occipital lobes. A computed tomographic (CT) scan of the brain revealed radiolucent areas in both occipital lobes. The following month, the girl had a grand mal seizure, followed by cortical blindness for 18 hours, with slow resolution. A lumbar puncture was performed (Table 1). Visual evoked responses were absent at that time but were present on a subsequent test. Brain-stem auditory evoked responses were abnormal on the left side. Phenytoin was administered.Shortly thereafter, the patient was seen at this hospital. Examination showed 20/50 vision, with extinction of the left visual field. The patient had great difficulty recognizing objects. A right pronator drift and right Babinski sign were present. Three months later, the patient's right arm and leg became limp and clumsy for a period of 36 hours. One week thereafter, sensation became altered in the left hand, which twitched for a prolonged interval, even during sleep. The right hand twitched constantly and functioned poorly for the next three days. Twentyone months before admission, a cranial CT scan (Fig. 1) showed slight improvement in the occipital abnormalities and a new lesion in the left frontoparietal region. An MRI study confirmed the CT findings. The findings on left carotid and vertebral an-*To convert the value for glucose to millimoles per liter, multiply by 0.05551.

Two Siblings with Different Presentation of Melas

“…MELAS can present with a wide range of different clinical phenotypes. It commonly causes a metabolic stroke 4 . The brain lesions as seen in case 2 does not follow any vascular territories.…”