Bruno Coutinho

Autonomic evaluation of hepatitis C virus infected patients

There are few studies reporting the association between hepatitis C virus (HCV) infection and disautonomia. We have evaluated the autonomic cardiovascular function in 12 patients with sensory small-fiber polyneuropathy infected by HCV. The mean age was 49 ± 13 years old. The mean infection time was 9.6 years in six (50%) patients. Thermal and pinprick hypoesthesia was observed in distal legs in all patients. Autonomic symptoms were referred by eight (66.7%) patients. Among patients with abnormal autonomic cardiovascular test, five (41.7%) showed abnormal results in two or more tests. Valsalva maneuver was abnormal in seven (58.3%) patients. We can consider that there is an association of both parasympathetic and sympathetic efferent cardiovascular dysfunction in this group of patients.

Palm to Finger Ulnar Sensory Nerve Conduction

Ulnar neuropathy at the wrist (UNW) is rare, and always challenging to localize. To increase the sensitivity and specificity of the diagnosis of UNW many authors advocate the stimulation of the ulnar nerve (UN) in the segment of the wrist and palm. The focus of this paper is to present a modified and simplified technique of sensory nerve conduction (SNC) of the UN in the wrist and palm segments and demonstrate the validity of this technique in the study of five cases of type III UNW. The SNC of UN was performed antidromically with fifth finger ring recording electrodes. The UN was stimulated 14 cm proximal to the active electrode (the standard way) and 7 cm proximal to the active electrode. The normal data from amplitude and conduction velocity (CV) ratios between the palm to finger and wrist to finger segments were obtained. Normal amplitude ratio was 1.4 to 0.76. Normal CV ratio was 0.8 to 1.23.We found evidences of abnormal SNAP amplitude ratio or substantial slowing of UN sensory fibers across the wrist in 5 of the 5 patients with electrophysiological-definite type III UNW.

Distal acquaried demylinating symmetric neuropathy in two patients with essential hiperIgEmia

1Mestre e Doutorando em Neurologia pela Universidade Federal Fluminense (UFF), Rio de Janeiro RJ, Brazil; 2PhD, Fellow of the American Academy of Neurology (FAAN), Professor Titular em Neurologia da UFF, Rio de Janeiro RJ, Brazil. Correspondence: Bruno Mattos Coutinho; Rua Visconde de Caravelas 70 / apto. 102; 22271-022 Rio de Janeiro RJ Brasil; E-mail: bmcoutinho@gmail.com Conflict of interest: There is no conflict of interest to declare. Received 14 September 2011; Received in final form 21 February 2013; Accepted 28 February 2013.

Pompe disease: distal myopathy in a previously unreported heterozygous variant

Background: Pompe disease (PD) is an autosomal recessive, rare disease, caused by a deficiency on lysosomal enzyme alpha-glucosidase (GAA). It causes progressive muscular weakness and may lead to respiratory impairment. Presentation may occur as soon as in newborns (early-onset) or later in children, adolescents or adults (late-onset). There are genotypic and phenotypic variations on disease. We describe two cases (mother and daughter) with previously unreported mutations and clinical heterogeneity. Objective: To report a previously unreported heterozygous variant in exon 8 of the GAA gene (c.1198G>A p.V400I) associated to a distal myopathy presentation. Methods: Patient 1 is a 38-year-old female presented with a 5-year disease progression that started with distal limb weakness, with foot dorsiflexion impairment. She has recently started to present dyspnea. Electroneuromyography (EMG) showed normal neuroconduction and an unequivocal distal myopathy pattern. Patient 2, her daughter (23 y.o.) presented dyspnea and no evident weakness at neurological examination; a pericardic effusion was observed at ultrasound examination. Parents are consanguineous. EMG findings suggested a proximal myopathy. Both patients were tested genetically for PD (CENTOGENE®). Results: Genotype for both patients are presented: Patient 1 - Tandem MS alpha-glucosidase (Pompe) - 1,7 μmol/l/h (reference: > 3 μmol/l/h). Gene sequencing GAA - heterozygous variant (c.1198G>A p.V400I). Tandem MS sphingomyelinase (control) - 1,9 μmol/l/h (reference: 蠅 2 μmol/l/h). Patient 2 - Tandem MS alpha-glucosidase (Pompe) - 2,7 μmol/l/h (reference: > 3 μmol/l/h) Gene sequencing GAA - heterozygous variant (c.1198G>A p.V400I). Conclusion: Our patients present the phenotypic heterogeneity of PD under the same genotypic variation in the same family, being ours the first distal myopathy case reported. We also detected a previously unreported heterozygous variant in exon 8 of the GAA gene (c.1198G>A p.V400I). PD is a rare, heterogeneous condition that may mimic many neuromuscular conditions. Disclosure: Dr. Farinhas has nothing to disclose. Dr. Nascimento has nothing to disclose. Dr. Davidovich has nothing to disclose. Dr. Dornas has nothing to disclose. Dr. Pupe has nothing to disclose. Dr. Coutinho has nothing to disclose.