Hyperkinesias in Leigh-like Syndrome with Complex-I Deficiency Due to m.10191T>C in MT-ND3.

Hyperkinesias in a patient with complex-I deficiency due to the variant m.10191T>C in MT-ND3 have not been previously reported. The patient is a 32 years-old female with multisystem mitochondrial disease due to variant m.10191T>C in MT-ND3, who has been experiencing episodic, spontaneous or induced abnormal movements since age 23. The abnormal movements started as right hemi-athetosis, bilateral dystonia of the legs, or unilateral dystonia of the right arm and leg. They often progressed to severe ballism, involving the trunk, and limbs. The arms were more dystonic than the legs. In conclusion, complex-I deficiency due to the variant m.10191T>C in MT-ND3 may manifest as multisystem disease including hyperkinesias. Neurologists should be aware of hyperkinesias as a manifestation of complex-I deficiency.

RésuméL'hyperkinésie d'une patiente atteinte d'un déficit en complexe I dû à la variante m.10191T>C du gène MT-ND3 n'a jamais été rapportée auparavant. La patiente est une femme de 32 ans atteinte d'une maladie mitochondriale multisystémique due à la variante m.10191T>C du gène MT-ND3, qui présente des mouvements anormaux épisodiques, spontanés ou provoqués depuis l'âge de 18 ans. mouvements anormaux épisodiques, spontanés ou provoqués depuis l'âge de 23 ans. Les mouvements anormaux ont commencé par une hémiathétose droite, dystonie bilatérale des jambes ou dystonie unilatérale du bras et de la jambe droite. Ils ont souvent évolué vers un ballisme sévère, impliquant le tronc et les membres. le tronc et les membres. Les bras étaient plus dystoniques que les jambes. En conclusion, le déficit en complexe I dû à la variante m.10191T>C du gène MT-ND3 peut se manifester par une maladie multisystémique comprenant des hyperkinésies. Les neurologues doivent être conscients que l'hyperkinésie est une manifestation du déficit en complexe-I. de la déficience en complexe I.

Infantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case Series.

BACKGROUND: Six percent of patients with Leigh syndrome (LS) present with infantile epileptic spasms syndrome (IESS). However, treatment strategies for IESS with LS remain unclear. This retrospective study aimed to evaluate the efficacy and safety of treatment strategies in patients with IESS complicated by LS and Leigh-like syndrome (LLS). METHODS: We distributed questionnaires to 750 facilities in Japan, and the clinical data of 21 patients from 15 hospitals were collected. The data comprised treatment strategies, including adrenocorticotropic hormone (ACTH) therapy, ketogenic diet (KD) therapy, and antiseizure medications (ASMs); effectiveness of each treatment; and the adverse events. RESULTS: The median age at LS and LLS diagnosis was 7 months (range: 0 to 50), whereas that at the onset of epileptic spasms was 7 (range: 3 to 20). LS was diagnosed in 17 patients and LLS in four patients. Seven, two, five, and seven patients received ACTH + ASMs, ACTH + KD + ASMs, KD + ASMs, and ASMs only, respectively. Four (44%) of nine patients treated with ACTH and one (14%) of seven patients treated with KD achieved electroclinical remission within one month of treatment. No patients treated with only ASMs achieved electroclinical remission. Seven patients (33%) achieved electroclinical remission by the last follow-up. Adverse events were reported in four patients treated with ACTH, none treated with KD therapy, and eight treated with ASMs. CONCLUSION: ACTH therapy shows the best efficacy and rapid action in patients with IESS complicated by LS and LLS. The effectiveness of KD therapy and ASMs in this study was insufficient.

Abordagem anestésica em paciente pediátrico com síndrome de Leigh / Anesthetic management of a pediatric patient with Leigh syndrome / Abordaje anestésico en paciente Pediátrico con el síndrome de Leigh

JUSTIFICATIVA E OBJETIVOS: A síndrome de Leigh (SL) é uma doença rara causada por anomalias na produção de energia mitocondrial. O sistema nervoso central é afetado com mais frequência, com retardo psicomotor, convulsões, nistagmo, oftalmoparesia, atrofia óptica, ataxia, distonia ou insuficiência respiratória. Os procedimentos cirúrgicos e anestésicos provocam irritabilidade traqueal e podem exacerbar os riscos de aspiração, sibilação, dificuldade respiratória, respiração ofegante, hipoventilação e apneia. RELATO DE CASO: Apresentamos uma abordagem anestésica usada em um menino de seis anos com a forma grave de SL que envolve reparação de uma fratura de fêmur. Propofol e remifentanil foram infundidos para anestesia geral. O paciente foi atentamente monitorado durante a anestesia e sua permanência na unidade de terapia intensiva no período pós-operatório inicial. CONCLUSÕES: Uma atenta monitoração intraoperatória dos pacientes, que inclui pressão arterial invasiva e mensurações frequentes da gasometria, glicose e lactato, faz esse procedimento transcorrer sem problemas. A terapia intensiva e a assistência respiratória ao paciente com SL sob sedação, com uma combinação de analgésicos durante o período pós-operatório inicial, minimizaram a resposta ao estresse causado pela dor pós-cirúrgica.

BACKGROUND AND OBJECTIVES: Leigh syndrome (LS) is a rare disease caused by abnormalities of mitochondrial energy generation. The central nervous system is most frequently affected, with psychomotor underdevelopment, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure. Surgical and anesthetic procedures stimulate the tracheal irritability, and could exacerbate risks of aspiration, wheezing, breathing difficulties, gasping, hypoventilation, and apnea. CASE REPORT: We present the anesthetic management for a six-year-old boy with severe form of LS, involving repair of a femur fracture. Propofol and remifentanil were infused for general anesthesia. The patient was closely monitored during anesthesia and in the intensive care unit in the early postoperative period. CONCLUSIONS: Close intraoperative monitoring of patients, including invasive arterial blood pressure monitoring and frequently measuring the levels of blood gases, glucose, and lactate, made this procedure run smoothly. Intensive care and breathing support for the patient with LS, under sedation with an analgesic combination during the early postoperative period, minimized the stress response due to pain after surgery.

JUSTIFICATIVA Y OBJETIVOS: El síndrome de Leigh (SL) es una enfermedad rara causada por anomalías en la producción de energía mitocondrial. El sistema nervioso central está afectado más a menudo, con el retardo psicomotor, convulsiones, nistagmo, oftalmoparesia, atrofia óptica, ataxia, distonía o insuficiencia respiratoria. Los procedimientos quirúrgicos y anestésicos provocan irritabilidad traqueal y pueden exacerbar los riesgos de aspiración, sibilancias, dificultad respiratoria, respiración extenuante, hipoventilación y apnea. RELATO DE CASO: Presentamos un abordaje anestésico usado en un niño de 6 años, con la forma grave de SL que nos ocupa con la reparación de una fractura de fémur. El propofol y el remifentanilo se infundieron para la anestesia general. El paciente fue monitoreado con mucho cuidado durante la anestesia y durante su permanencia en la unidad de cuidados intensivos en el período postoperatorio inicial. CONCLUSIONES: Una meticulosa monitorización intraoperatória de los pacientes, que incluye monitorización de presión arterial invasiva y mensuraciones frecuentes de la gasometría, glucosa y lactato, posibilita el perfecto transcurso del procedimiento. Los cuidados intensivos y la asistencia respiratoria al paciente con SL bajo sedación con una combinación de analgésicos durante el período postoperatorio inicial, minimizaron la respuesta al estrés causado por el dolor postquirúrgico.