Two cases of spinal muscular atrophy type 1 with extensive involvement of sensory nerves / 소아과

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by diffuse proximal and distal weakness due to deletion of the survival motor neuron (SMN) gene localized on chromosome 5 (5 q1 1 .2 -1 3 .3 ). SMA has been considered as a pure lower motor neuron disorder, and a definitive diagnosis can be established by molecular genetic testing. Here, we describe two patients with severe hypotonia and frequent aspirations at early infancy. Nerve conduction studies showed more extensive sensory involvement in these patients diagnosed to have SMA by genetic study than in classical cases of SMA. To the best of our knowledge, this is the first report of SMA Type 1 with sensory nerve involvement in Korea.

Methodology of Evaluating the Function of Pudendal Nerve

PURPOSE: Although the pudendal nerve terminal motor latency (PNTML) is normally used, there is no definite test that accurately reflects the function of the pudendal nerve. This study was undertaken to determine the relative accuracy of the various methods in measuring the function of the pudendal nerve. METHODS: Thirty one female patients (age 51.3+/-15.7) with a defecation disorder (constipation 20, fecal incontinence 11) were evaluated prospectively using a neurophysiologic test and balloon reflex manometry. Five parameters such as the right and left PNTML, anal mucosal electrosensitivity, latency and the amplitude of the rectoanal contractile reflex (RACR) were analyzed statistically for their correlation. RESULTS: There was no significant inter-test correlation among the parameters. However, the intra-test correlations between the parameters such as the right and left PNTML (r=0.9629, P<0.001)/latency and the RACR amplitude (r= -0.3770, P=0.0366) were found to be significant. CONCLUSION: The accuracy of these tests in evaluating the pudendal neuropathy could not be determined. However, because it can be assumed that a measurement of the RACR in addition to RNTML is technically accurate, it there will need to be more study for it to be used as an alternative to a PNTML measurement.

Median Nerve Conduction Study in Different Wrist Position in the Diabetes with or without Polyneuropathy

OBJECTIVE: To acknowledge whether flexion or extension of wrist joint produces any changes in median nerve conduction of the diabetes with or without polyneuropathy. METHOD: With thirty healthy adults selected as control, 33 diabetes with polyneuropathy (Group I) and 21 diabetes without polyneuropathy (Group II) were studied. Before the study, the wrist joint was positioned in flexion or extension for 5 minutes. The variables used for the statistic analysis were mean changes of latencies and amplitudes in the median motor and sensory responses in neutral, flexed, and extended position. RESULTS: After wrist flexion or extension, there was no significant difference in the mean change of latencies and trans-carpal conduction velocities between Group I and Group II in the median motor and sensory nerve conduction studies, and in the mean change of amplitudes between the two groups in the median motor nerve study. But, there was significant difference in the mean change of amplitude between Group I and Group II in the median sensory nerve study after wrist extension. CONCLUSION: We conclude that the change of amplitude in median nerve conduction study in different wrist position may be helpful to detect carpal tunnel syndrome with diabetic polyneuropathy in its early stage.

Determination of Follow-up Time of Abnormal Brainstem Auditory Evoked Potential in Infancy

OBJECTIVE: To determine optimal follow-up time of BAEP for the infants with abnormal BAEP at the initial screening test. METHOD: Control group consisted of 85 infants with normal BAEP and experimental group consisted of 41 infants with abnormal BAEP at the first examination but normalized on regular follow-up examinations. Gestational age (correctional age), intrauterine period, birth weight, delivery method, presence of perinatal asphyxia, Apgar score after 1 minute, the highest serum bilirubin level, and the results of cranial ultrasonography were recorded. The above parameters, peak and interpeak latencies of BAEP were compared between both groups. RESULTS: Lower correctional age at the first BAEP, shorter intrauterine period, and lower birth weight were noted in experimental group (p<0.001). The average correctional age when BAEP had normalized in experimental group was 45.0+/-5.8 weeks, which was much later than 40.2+/-2.8 weeks in control group (p<0.001). 90.2% of infants among experimental group revealed normalized BAEP within 48 weeks, and 95.1% within 51 weeks according to correctional age, or within 12 weeks after initial examination. CONCLUSION: We recommend that BAEP should be rechecked after 48 weeks by correctional age for the high risk infants who were abnormal with initial screening BAEP.