[A case of MELAS presenting juvenile-onset hyperglycemic chorea-ballism].

We report herein the case of a 28-year-old man presenting with hyperglycemic chorea-ballism (HCB) in addition to mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). He was admitted to a local hospital due to weight loss, general fatigue and thirst. The patient had diabetes mellitus, with a blood glucose level of 738 mg/dl and HbA1c of 19.8%. Although insulin therapy improved hyperglycemia, he noticed involuntary movements in the right upper and lower limbs, which subsequently extended to the left side. The patient was thus transferred to our hospital. He displayed short stature (154 cm) and emaciation, and a maternal family history of diabetes mellitus was elicited. He had no history of stroke-like episode, headache, vomiting and seizure. Neurological examination revealed low intelligence (IQ 57), mild sensorineural deafness, and chorea-ballism in the extremities and head without ptosis or eye movement disturbance. Brain computed tomography (CT) demonstrated areas of high density, while T1-weighted magnetic resonance imaging (MRI) revealed extreme hyperintensity and T2-weighted MRI showed hyperintensity in bilateral caudate nuclei, putamina and globi pallidus. HCB was diagnosed. In, CSF, lactate level was increased to 43.9 mg/dl (n, 4-16), pyruvate level was 1.65 mg/dl (n, 0.3-0.9) and total protein concentration was 59 mg/dl. Histological examination of a biopsy sample from the biceps brachii muscle demonstrated ragged-red fibers. An A3243G point mutation in the tRNA(Leu(UUR)) gene was detected, indicating the presence of MELAS. Involuntary movements improved on treatment with haloperidol up to 4.5 mg/day. HCB usually appears in elderly individuals, and cases less than 40-years-old are very rare. The mitochondrial dysfunction in MELAS may accelerate development of HCB.

[Spinal epidural hematoma: relationship between imaging findings and neurological outcomes].

PURPOSE: The purpose of this study was to evaluate the usefulness of CT or MR imaging findings in patients with spinal epidural hematoma (SEH) for predicting neurological outcome. MATERIALS AND METHODS: MR images of our six patients with SEH were evaluated retrospectively: complete recovery was achieved in two patients; paresis remained in two patients; and paraplegia remained in two patients. The ratio of the maximum anteroposterior diameter of the SEH to that of the spinal canal was calculated in each patient on midline on axial images in our six patients and 23 previously reported patients. RESULTS: Among our six patients, the ratio was less than 60% in two patients with total recovery, whereas all four patients with remaining motor impairment had ratios of 60% or more. Of 29 cases, 18 of 22 patients without residual motor impairment had ratios of less than 60%, but five of seven patients with residual motor deficits had ratios of 60% or more (p = 0.023). CONCLUSION: The degree of spinal cord compression by hematoma may be a prognostic factor in SEH.