Pediatric sciatic neuropathy: Clinical presentation and long term follow up. / Neuropatía ciática en pediatría: Presentación clínica y seguimiento a largo plazo.

INTRODUCTION: Sciatic neuropathy is rare and difficult to diagnose in pediatrics, and its long-term course has not been completely understood. OBJECTIVE: To analyze the clinical presentation and evolution of a group of pediatric patients with sciatic neuropathy. PATIENTS AND METHOD: Retrospective anal ysis of the clinical characteristics of pediatric patients with sciatic neuropathy treated in two hospitals of Santiago between 2014 and 2018. Locomotor examination, muscle trophism, deep tendon reflexes, gait, sensation, and pain were assessed. Sciatic nerve conduction study and electromyography (EMG) were performed, and magnetic resonance imaging (MRI) in three patients. RESULTS: Six patients were included with an average age of 11.8 years. The etiologies were traumatic (N = 2), by compression (N = 2), vascular (N = 1), and tumor (N = 1). All of the 6 patients presented foot drop and Achilles tendon hyporeflexia/areflexia, and 5 patients presented severe neuropathic pain. The EMG showed involvement of the sciatic nerve rami and dependent muscles. In two patients, a pelvic girdle and lower limbs MRI was performed, showing selective muscle involvement in sciatic territory. One patient underwent a lumbosacral plexus MRI, and subsequently histological study showing a benign neural tumor. Out of the three patients who were followed-up longer than one year presented motor sequelae and gait disorder. CONCLUSION: Sciatic neuropathy in the study group was secondary to different causes, predominantly traumatic and compressive etiologies. The three patients that were ina long-term follow-up presented significant motor sequelae. In most of the cases, neural injury wasassoci- ated with preventable causes, such as accidents and positioning in unconscious children, which is crucial in the prevention of a pathology with a high sequelae degree.

Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant.

Non-dystrophic myotonias are a group of rare neuromuscular diseases linked to SCN4A or CLCN1. Among the subtypes, myotonia permanens, associated with the Gly1306Glu variant of SCN4A, is a relatively less frequent but more severe form. Most reports of non-dystrophic myotonias describe European populations. Therefore, to expand the genetic and phenotypic spectrum of this disorder, we evaluated 30 Chilean patients with non-dystrophic myotonias for associated variants and clinical characteristics. SCN4A variants were observed in 28 (93%) of patients, including 25 (83%) with myotonia permanens due to the Gly1306Glu variant. Myotonia permanens was inherited in 24 (96%) patients; the mean age of onset was 6 months, and the initial symptoms were orbicularis oculi myotonia in 17 (74%) patients and larynx myotonia in 12 (52%) patients. The extraocular muscles were involved in 11 (44%) patients, upper limbs in 20 (80%), and lower limbs in 21 (84%). Thirteen (52%) patients experienced recurrent pain and 10 (40%) patients reported limitations in daily life activities. Carbamazepine reduced myotonia in eight treated patients. The high frequency of the Gly1306Glu variant in SCN4A in Chilean patients suggests a founder effect and expands its phenotypic spectrum.

Neuropatía ciática en pediatría: presentación clínica y seguimiento a largo plazo / Pediatric sciatic neuropathy: clinical presentation and long term follow up

Resumen: Introducción: La neuropatía ciática es una entidad infrecuente y de difícil diagnóstico en Pediatría. Su evolución a largo plazo no ha sido claramente definida. Objetivo: Analizar la presentación clínica y evolución de un grupo de niños con neuropatía ciática. Pacientes y Método: Análisis retrospectivo de las características clínicas de pacientes pediátricos con neuropatía ciática atendidos en 2 hospitales de Santiago, entre 2014-2018. Se evaluó examen motor, trofismo muscular, reflejos osteotendíneos, marcha, sensibilidad y dolor. Se estudió neuroconducción de nervio ciático, electromiografía (EMG) y en 3 pacientes, Resonancia Magnética (RM). Resultados: Se incluyeron 6 pacientes, edad promedio 11,8 años. Hubo 2 causas traumáticas, 2 compresivas, 1 vascular y 1 tumoral. Los 6 pa cientes debutaron con pie caído e hiporreflexia/arreflexia aquiliana; 5 pacientes presentaron dolor neuropático severo. La EMG mostró en todos los casos compromiso en nervios y musculatura de pendientes del nervio ciático. En 2 casos se realizó RM de cintura pélvica y extremidades inferiores, mostrando compromiso muscular selectivo en pierna en territorio ciático. En 1 caso, se realizó RM de plexo lumbosacro, y luego estudio histológico, que concluyeron un tumor neural benigno. En los 3 pacientes que tuvieron seguimiento mayor a un año, se observaron secuelas motoras, con marcha alterada. Conclusión: La neuropatía ciática en este grupo fue secundaria a diversas etiologías, predominando las traumático-compresivas. En los 3 casos que tuvieron seguimiento a largo plazo se observaron secuelas motoras significativas. En la mayoría la lesión se asoció a causas prevenibles como accidentes y posicionamiento en niños con compromiso de conciencia, lo que resulta fundamental en la prevención de una patología con alto grado de secuelas.

Abstract: Introduction: Sciatic neuropathy is rare and difficult to diagnose in pediatrics, and its long-term course has not been completely understood. Objective: To analyze the clinical presentation and evolution of a group of pediatric patients with sciatic neuropathy. Patients and Method: Retrospective anal ysis of the clinical characteristics of pediatric patients with sciatic neuropathy treated in two hospitals of Santiago between 2014 and 2018. Locomotor examination, muscle trophism, deep tendon reflexes, gait, sensation, and pain were assessed. Sciatic nerve conduction study and electromyography (EMG) were performed, and magnetic resonance imaging (MRI) in three patients. Results: Six patients were included with an average age of 11.8 years. The etiologies were traumatic (N = 2), by compression (N = 2), vascular (N = 1), and tumor (N = 1). All of the 6 patients presented foot drop and Achilles tendon hyporeflexia/areflexia, and 5 patients presented severe neuropathic pain. The EMG showed involvement of the sciatic nerve rami and dependent muscles. In two patients, a pelvic girdle and lower limbs MRI was performed, showing selective muscle involvement in sciatic territory. One patient underwent a lumbosacral plexus MRI, and subsequently histological study showing a benign neural tumor. Out of the three patients who were followed-up longer than one year presented motor sequelae and gait disorder. Conclusion: Sciatic neuropathy in the study group was secondary to different causes, predominantly traumatic and compressive etiologies. The three patients that were ina long-term follow-up presented significant motor sequelae. In most of the cases, neural injury wasassoci- ated with preventable causes, such as accidents and positioning in unconscious children, which is crucial in the prevention of a pathology with a high sequelae degree.

Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports.

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.