ABSTRACT
BACKGROUND: Congenital Myasthenic Syndromes (CMS) are rare genetic diseases, which share as a common denominator muscle fatigability due to failure of neuromuscular transmission. A distinctive clinical feature of presynaptic CMS variants caused by defects of the synthesis of acetylcholine is the association with life-threatening episodes of apnea. One of these variants is caused by mutations in the SLC5A7 gene, which encodes the sodium-dependent HC-3 high-affinity choline transporter 1 (CHT1). To our knowledge there are no published cases of this CMS type in Latin America. CASE PRESENTATION: We present two cases of CHT1-CMS. Both patients were males presenting with repeated episodes of apnea, hypotonia, weakness, ptosis, mild ophthalmoparesis, and bulbar deficit. The first case also presented one isolated seizure, while the second case showed global developmental delay. Both cases, exhibited incomplete improvement with treatment with pyridostigmine. CONCLUSIONS: This report emphasizes the broad incidence of CMS with episodic apnea caused by mutations in the SLC5A7 gene and the frequent association of this condition with serious manifestations of central nervous system involvement.
Subject(s)
Myasthenic Syndromes, Congenital , Humans , Myasthenic Syndromes, Congenital/genetics , Male , Mutation , Symporters/genetics , Child , Child, PreschoolABSTRACT
El síndrome de Down (SD) es la anomalía cromosómica más frecuente entre los recién nacidos vivos. La atrofia muscular espinal (AME), por su parte, es una enfermedad neuromuscular caracterizada por la degeneración progresiva de las motoneuronas del asta anterior de la médula espinal que produce atrofia muscular, debilidad y parálisis. Presentamos el caso de una niña de 6 años con síndrome de Down derivada a nuestro centro para estudio por cuadro de debilidad muscular generalizada de evolución crónica con falta de adquisición de la marcha. Realizamos una revisión bibliográfica enfocándonos en el compromiso neurológico esperable en el síndrome de Down, la evolución de los hitos del desarrollo motor grueso estipulado para este grupo de pacientes y en los hallazgos que deben sugerir la presencia de una enfermedad neuromuscular.
A case of a 6-year-old girl with Down's syndrome is presented. She was referred to our center due to a history of generalized muscle weakness of chronic evolution, associated to her inability to walk. Her mother claimed that the girl's muscle weakness always called her attention as well as the difficulties to the development of motor skills shown by her daughter compared to other children, whether they were healthy or with Down's syndrome. There was information in her medical record and physical exam that strongly suggested the possibility of suffering a neuromuscular disorder. We asked for a molecular study that confirmed the spinal muscular atrophy diagnosis. We carried out a bibliographical revision focusing on the expected neurological impairment in Down's syndrome, the retardation of the gross motor skills development determined for this kind of patients and on the findings that must suggest a neuromuscular disorder.
Subject(s)
Humans , Female , Child , Muscular Atrophy, Spinal/diagnosis , Muscular Atrophy, Spinal/etiology , Down Syndrome/complications , Down Syndrome/diagnosis , Muscle Weakness , Delayed Diagnosis , Motor SkillsABSTRACT
A case of a 6-year-old girl with Down's syndrome is presented. She was referred to our center due to a history of generalized muscle weakness of chronic evolution, associated to her inability to walk. Her mother claimed that the girl's muscle weakness always called her attention as well as the difficulties to the development of motor skills shown by her daughter compared to other children, whether they were healthy or with Down's syndrome. There was information in her medical record and physical exam that strongly suggested the possibility of suffering a neuromuscular disorder. We asked for a molecular study that confirmed the spinal muscular atrophy diagnosis. We carried out a bibliographical revision focusing on the expected neurological impairment in Down's syndrome, the retardation of the gross motor skills development determined for this kind of patients and on the findings that must suggest a neuromuscular disorder.
El síndrome de Down (SD) es la anomalía cromosómica más frecuente entre los recién nacidos vivos. La atrofia muscular espinal (AME), por su parte, es una enfermedad neuromuscular caracterizada por la degeneración progresiva de las motoneuronas del asta anterior de la médula espinal que produce atrofia muscular, debilidad y parálisis. Presentamos el caso de una niña de 6 años con síndrome de Down derivada a nuestro centro para estudio por cuadro de debilidad muscular generalizada de evolución crónica con falta de adquisición de la marcha. Realizamos una revisión bibliográfica enfocándonos en el compromiso neurológico esperable en el síndrome de Down, la evolución de los hitos del desarrollo motor grueso estipulado para este grupo de pacientes y en los hallazgos que deben sugerir la presencia de una enfermedad neuromuscular.
Subject(s)
Down Syndrome , Muscular Atrophy, Spinal , Humans , Child , Female , Down Syndrome/complications , Down Syndrome/diagnosis , Delayed Diagnosis , Muscle Weakness , Muscular Atrophy, Spinal/diagnosis , Muscular Atrophy, Spinal/etiology , Motor SkillsABSTRACT
BACKGROUND: Radiofrequency thermorhizotomy of the trigeminal nerve is a known treatment of trigeminal neuralgia. Analysis of verbal responses to electric stimulation of the trigeminal rootlets has been the only method available to localize the affected branch, but patient discomfort may lead to unreliable verbal responses, resulting in increased morbidity or even therapeutic failure. Orthodromically elicited evoked potentials of the trigeminal nerve have also been used, but their application is tedious and results may vary. OBJECTIVE: To develop an electrophysiological method for intraoperative localization of the trigeminal nerve branches. METHODS: A series of 55 patients under general anesthesia during radiofrequency thermorhizotomy were studied. The trigeminal nerve root was stimulated through the foramen ovale with the RF electrode. Antidromic responses were recorded from the 3 divisions of the trigeminal nerve in the face. Effectiveness rate, pain relief, recurrence, complications, and patient comfort after the procedure were analyzed. RESULTS: Reproducible and easily obtained antidromic responses were clearly recorded in every subdivision of the trigeminal nerve in all patients. Ninety-four percent of patients experienced immediate pain relief after the procedure. The recurrence rate was 12.72%, and the surgical morbidity was 20%. CONCLUSION: This method proved to be useful to determine the exact localization of individual subdivisions of the trigeminal nerve in anesthetized patients, making this procedure safer and more comfortable for them.