RESUMO
BACKGROUND: The myopathic form of carnitine palmitoyltransferase type II deficiency is an inherited autosomal recessive metabolic myopathy usually starting in childhood. Most reports have been on European and Japanese populations, and no Native South American patients have been reported to date. The p.Ser113Leu mutation is the most frequent in the European population. Only lower-leg magnetic resonance imaging findings have been reported, with gluteus maximus involvement in one case and normal imaging in other patients. CASE PRESENTATION: Two Native South American siblings, a boy and a girl, presented to our neuromuscular clinic with recurrent rhabdomyolysis associated with transient muscle weakness after prolonged exercise. During episodes, their creatine kinase concentrations were markedly increased, up to 148,000 (1.48 × 105) IU/L in the boy and 18,000 (1.8 × 104) IU/L in the girl. The results of electroneuromyography and histopathology suggested a nonspecific myopathy. CPT2 gene sequencing showed two heterozygous mutations: the p.Ser113Leu variant and a novel one (predicted to be deleterious by in silico analysis), the p.Ser373Pro variant. The patients' parents were asymptomatic carriers. Whole-body magnetic resonance imaging showed mild selective involvement in the thoracic extensors and pelvic girdle in both siblings, and in the thighs and lower legs in one of them. Dietary and bezafibrate treatment was started, and symptomatic relief was observed. CONCLUSIONS: To the best of our knowledge, this is the first reported Native South American family with a CPT2 deficiency carrying a novel mutation and particular features visualized by whole-body magnetic resonance imaging.
Assuntos
Carnitina O-Palmitoiltransferase/deficiência , Doenças Musculares/genética , Adolescente , Carnitina O-Palmitoiltransferase/genética , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Doenças Musculares/diagnóstico , Doenças Musculares/patologia , Mutação , Estudos Retrospectivos , Rabdomiólise/diagnóstico , Rabdomiólise/genética , Rabdomiólise/patologia , Adulto JovemRESUMO
INTRODUCTION: Swallowing disorders are common in hospitalised patients and are an added difficulty when it comes to discharging them from hospital. Suitable characterisation performed by means of assessments conducted by a neurologist and a speech and language therapist allows for more accurate therapeutic decision-making. AIM: To describe swallowing disorders from the speech and language therapy evaluation performed on admission until discharge in paediatric patients and their relation with the therapeutic intervention that was implemented. PATIENTS AND METHODS: We performed a retrospective analysis consisting in the examination of the medical records of 38 paediatric patients hospitalised between May 2007 and June 2008. Functional clinical evaluation was carried out in 100% of patients, and a video swallow study was conducted in 34%. Swallowing disorders were characterised as mild, moderate and severe, according to the stage that was altered and aspiratory risk to the airway. A speech therapist provided therapeutic intervention, and parents and caregivers were given special training. RESULTS: Swallowing disorders were chiefly associated to prematurity. The most frequently used therapeutic techniques were: tactile stimulation, providing patterns and training of parents. In the speech and language therapy evaluation performed on admission, 37% of disorders were severe, 21% were moderate and 42% were mild disorders. In most of the newborn infants, progress was favourable, as shown by a shift to normal swallowing in 48% and to mild in 8%. In the 17 preterm newborn infants, there was a change to normal swallowing in 65% and to mild in 12%. CONCLUSIONS: Swallowing disorders in this group of patients is mainly associated to prematurity. Systematic therapeutic intervention would help in the recovery from swallowing disorders, especially in preterm newborn infants.