Spasticity secondary to Leigh syndrome managed with selective dorsal rhizotomy: a case report.

PURPOSE: Selective dorsal rhizotomy (SDR) is a surgical technique used to treat spasticity in children secondary to cerebral palsy (CP). METHOD: We report, to the best of our knowledge for the first time, the case of a child who underwent SDR for the management of spasticity secondary to Leigh syndrome. RESULT: SDR resulted in excellent functional outcome with significant improvement in spasticity. This result contributes to the mounting evidence that SDR could be used to alleviate spasticity secondary not only to CP but also to other pathologies as well.

Anestesia en enfermedades mitocondriales / No disponible

Las enfermedades mitocondriales son un raro grupo de enfermedades que se manifiestan a través de un defecto en la cadena de transporte de electrones o de la fosforilación oxidativa. Se trata de una alteración del ADN nuclear o del mitocondrial que provoca miopatía hipotónica, encefalopatía y aumento del ácido láctico. Para su correcto diagnóstico deben realizarse, entre otras pruebas, una biopsia muscular y una resonancia magnética. El anestesista debe realizar su trabajo en un paciente con miopatía sin diagnosticar y con riesgo de complicaciones cardiorrespiratorias y neurológicas, por ello es importante el conocimiento de las acciones sobre la cadena respiratoria de los agentes anestésicos. Presentamos el desarrollo esquemático de las enfermedades de la cadena respiratoria mitocondrial y su manejo anestésico

Diseases of the mitochondrial respiratory chain are a rare pathologic group that can be manifested through a defect in the transport chain of electrons or by oxidative phosphorylation alteration. It is a disturbance of the nuclear or mitochondrial DNA, causing hypotonic myopathy, encephalopathy and hyperlactacidemya. For its correct diagnosis must be performed muscle biopsy and magnetic resonance. The anaesthetist must do their work in a patient without a correct diagnostic of myopathy, and a high risk of cardiorrespiratory and neurologic complications. That’s why it’s important the knowledge of the actions of de anaesthetic agents by de respiratory chain. We present the schematic development of the mitochondrial respiratory chain diseases and its anaesthetic management

Leigh syndrome: anesthetic management in complicated endoscopic procedures.

BACKGROUND: Leigh's syndrome, a disorder of infancy and childhood, is characterized by gray matter degeneration and focal brainstem necrosis. It presents with special clinical features such as developmental delay, nervous system dysfunction, respiratory abnormalities, and hypertrophic cardiomyopathy that can be a real challenge to the anesthesiologist. Anesthesia or sedation has rarely been reported in patients with Leigh disease. We report our experience in sedating five children with Leigh syndrome in seven procedures undertaken in the endoscopy suite (outside the operating room). METHODS: Five children with Leigh disease, three girls and two boys, have been referred to us for percutaneous endoscopic gastrostomy (PEG) insertion and or replacement (a total of seven procedures). The average age was 2.6 years with a range of 4 months to 6 years. Informed consent was obtained from the patient's parents or guardian. An anesthesia machine, scavenging system, O(2) source and routine monitoring were available. Sedation was accomplished with propofol intravenous (i.v.) (0.5-1 mg x kg(-1)) maintained with a propofol infusion (50-100 microg x kg(-1) x min(-1)). The spontaneously breathing patients received oxygen through an oxygen facemask during the procedure and afterwards recovery was managed in the gastroenterology unit. RESULTS: All the children underwent the procedure without complications. One patient developed transient desaturation (SpO(2) 80%) for a few seconds. Body temperature, heart rate, arterial blood pressure, O(2) saturation and endtidal CO(2) were stable during the endoscopies. No special post-procedure management was required; the patients woke up at the end of the endoscopy and were able to drink and eat as usual. CONCLUSIONS: This rare mitochondrial disease presents unique management problems to the anesthesiologist when using general anesthesia. Our patients were managed appropriately before endoscopy and underwent the procedure under deep sedation. No complications occurred. We concluded that deep sedation in the endoscopy suite was safe in this small series of patients with this rare disease.

Anesthetic implications of Leigh's syndrome.

Leigh's syndrome (LS) is a mitochondrial disorder characterized by progressive neurodegenerative changes with loss of developmental milestones, abnormalities of central control of respiration, and metabolic derangements. The primary genetic defect involves the respiratory chain complex and pyruvate dehydrogenase complex resulting in abnormal mitochondrial function and defective oxidative phosphorylation. While most patients have respiratory and neurological impairment, involvement of the cardiovascular and musculoskeletal systems may also occur. The authors present the use of spinal anesthesia for muscle biopsy in a 19 month old with LS and review the potential anesthetic implications of this syndrome.

Leigh's disease presenting as an intramedullary mass lesion.

An unusual presentation of Leigh's disease consisting of rapid progression of leg weakness in a young child is discussed. Magnetic resonance imaging revealed an intramedullary mass lesion of the conus medullaris. Surgical exploration revealed only necrosis and inflammation. Subsequent studies revealed pathology in the cerebrum as well as the spinal cord. Metabolic abnormalities confirmed the diagnosis of Leigh's disease. The differential diagnosis of intramedullary mass lesions demonstrated by magnetic resonance imaging should include metabolic, inflammatory, and ischemic processes as well as neoplastic disease.