We present the clinical course and EEG evolution of an extreme low birth weight preterm neonate with an uncommon type of glycine encephalopathy. The patient presented with myoclonic jerks, apnea and encephalopathy three months after birth without satisfactory therapeutic response. During the first days of clinical symptoms the patient presented a paroxystic burst-attenuation EEG pattern which progressively evolved into an established typical burstsuppression pattern within a few days. West syndrome occurred four weeks later and the patient died at seven months of extra-uterine life due to a serious respiratory infection with cardio-respiratory arrest. Genetic analysis showed a nonpreviously described mutation affecting a consensus splice site (IVS2-1G > C 3) in the AMT gene encoding the T protein of the glycine cleavage system.
The palmar cutaneous branch of the median nerve is highly exposed to trauma at the wrist; nevertheless, very few cases have been reported. We report four cases of this neuropathy, three being superficial while the fourth was deeper or more severe. The neuropathy was confirmed using electro-neurophysiological assessments. Macroscopically, the nerve appeared compressed and enlarged, and in all cases, surgical repair produced a significant improvement. This neuropathy often follows minor traumas and, maybe, should be taken into account as part of the differential diagnosis of posttraumatic or postsurgical lateral and distal wrist pain.
Adding the proposed test to the conventional studies of CTS in our cases presented showed a 14% increased sensitivity in detecting motor dysfunction when compared with conventional studies alone. Therefore, this new 2L-MC study represents a useful technique for assessing early motor involvement in CTS and would only add a few extra minutes to the standard diagnostic procedures. To conclude, we propose that incorporating this study as part of the standard assessment of CTS is given further consideration.
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