Tay-Sachs Disease is an autosomal recessive neurodegenerative disorder that is typically fatal within the first two or three years of life. Its incidence is highest among Ashkenazi Jews (Jews of Eastern European descent), approximately 100 times higher than in the general population. Juvenile and adult onset variants of the disease exist, but are extremely rare and will not be discussed here. The disease was characterized by two doctors working independently, resulting in its hyphenated name; a British physician named Warren Tay, and an American physician named Bernard Sachs. Tay, an ophthalmologist was, in 1881, the first to notice the characteristic red spot on the eye that is now considered a typical finding in the disease. Sachs, researching independently from Tay, began to characterize this syndrome, noting its familial characteristics and propensity to appear in Jewish children. In addition to the ophthalmologic findings made by Tay, Sachs, in 1887, characterized the disease as involving a halt to mental development, a deficiency in normal reflexes, progressive blindness, paresis, and mortality at about two years of age. 1
The lumbrical-interossei comparison study is commonly employed in the electrodiagnosis of carpal tunnel syndrome. Placement of the recording electrodes relies on anatomic landmarks as the muscles being recorded cannot be seen or palpated. To determine the optimal active electrode location, 15 controls and 5 patients were studied using a grid of 12 electrodes placed over the lateral palm. Amplitudes, rise-times, and latencies of the responses at each location were measured. The lowest control latency difference was located in the lateral mid-proximal palm (mean 0 ms, upper range of 0.5 ms). This location also had the highest lumbrical amplitude and rise-time. More distal in the palm, the mean latency difference increased to 0.5 ms with an upper range of 0.9 ms. When performing the lumbrical-interossei comparison study, it is essential to place the active recording electrode in the optimal location. Failure to do so will result in an increased number of false-positive studies.
Hypertension-induced encephalopathy is a recognized pathological process commonly focused in the parietal and occipital lobes of the cerebral hemispheres. The parenchyma of the posterior fossa is infrequently involved. The authors report on two cases of isolated edema of the cerebellar hemispheres, which occurred in the setting of hypertensive crisis and led to complete obstruction of or significant impingement on the fourth ventricle and potentially lethal hydrocephalus. To the best of the authors' knowledge, these are the first reported cases of hypertensive encephalopathy centered in the posterior fossa. Two patients presented with profound decreases in neurological status subsequent to development of malignant hypertension. Imaging studies revealed diffusely edematous cerebellar hemispheres with effacement of the fourth ventricle, causing dilation of the lateral and third ventricles. Following emergency placement of external ventricular drains, control of systemic blood pressure was accomplished, and neurological functioning returned to baseline. Although neurological deterioration resolved swiftly following placement of ventricular catheters and administration of diuretic agents, systemic blood pressure did not fluctuate with the release of cerebrospinal fluid and resolution of increased intracranial pressure. Decrease in systemic blood pressure lagged well behind improvement in neurological status; the patients remained morbidly hypertensive until systemic blood pressure was controlled with multiple parenteral medications. The authors hypothesize that the development of hypertension beyond the limits of cerebral autoregulation led to breakdown of the blood-brain barrier in the cerebellum and development of posterior fossa edema secondary to the focal transudation of protein and fluid. Correction of the elevated blood pressure led to amelioration of cerebellar edema. In the appropriate clinical setting, hypertension as the inciting cause of cerebellar encephalopathy should be considered.
We report the case of a 13-year-old boy with poorly controlled type 2 diabetes mellitus who developed severe diabetic amyotrophy, which progressed over a few months but demonstrated rapid recovery after administration of intravenous immunoglobulin. This report highlights the importance of monitoring adolescents for even the rare neurologic complications of diabetes mellitus most commonly encountered in adults, and supports the need for well-designed trials using immunomodulatory therapies in diabetic amyotrophy.
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