Descemet membrane endothelial keratoplasty in a child with corneal endothelial dysfunction in Kearns-Sayre syndrome.

PURPOSE: To evaluate clinical outcomes and complications after Descemet membrane endothelial keratoplasty (DMEK) in a child. METHODS: A 12-year-old boy with Kearns-Sayre syndrome (chronic progressive external ophthalmoplegia, cardiac conduction block, and pigmentary retinal degeneration) and corneal endothelial dysfunction was successfully treated with DMEK. Corneal transparency, central corneal thickness (CCT), endothelial cell density (ECD), visual outcomes, and complication rates were measured during the follow-up of 6 months. RESULTS: Best spectacle-corrected visual acuity (BSCVA) improved from counting fingers at 4 feet preoperatively to 20/100, 1 week after surgery. The ECD of the graft was 2595 cells per square millimeter. The CCT diminished from 837 µm preoperatively to 735 µm 1 week after surgery. Six months postoperatively, the BSCVA was still 20/100, and the cornea remained clear and compact. The ECD was 2341 cells per square millimeter and CCT was almost normal with 583 µm. No postoperative complications were observed. Fundus examination showed atypical pigmentary retinal degeneration with arterial narrowing. Electroretinography with full-field flash stimulation showed bilaterally severe retinal dysfunction with absent photopic and scotopic amplitudes explaining the reduced BSCVA. CONCLUSIONS: Although DMEK has been used in adult populations, we are unaware of previous reports of DMEK in a child. DMEK should be considered as a feasible technique in pediatric patients with endothelial dysfunction.

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

[Diagnostic and therapeutic problems in chronic progressive external ophthalmoplegia (CPEO)]. / Chronisch progressive externe Ophthalmoplegie (CPEO)--diagnostische und therapeutische Probleme.

BACKGROUND: Strictly speaking, CPEO is defined as paralysis of the external ocular muscles combined with ptosis. In Kearns-Sayre syndrome additional neurological or muscular deficits can be observed, sometimes even decades after the onset of ocular symptoms. METHOD: Three patients with classical CPEO and one patient with Kearns-Sayre syndrome where included in the present study. The clinical examinations included electromyography, various serological parameters and histological biopsies. RESULTS: The onset of ocular symptoms with divergent strabism and ptosis could be dated back to the age of 7, 27, 38 and 44 years starting on one eye and progressing slowly over years to both eyes. In the Kearns-Sayre syndrome patient a general decrease in cardio-respiratory fitness and occasional collapses were noted. In three patients ptosis and strabism surgery led to the relief of the ocular symptoms. CONCLUSIONS: In CPEO respectively Kearns-Sayre syndrome the onset of the disease is variable. The final correct diagnosis is often delayed due to the mild beginning of the symptoms and the slow progression of the paralyses. Early EMG and muscle biopsy examination may facilitate the diagnosis.

Síndrome de Kearns Sayre incompleto / Incomplete Kearns Sayre syndrome

El síndrome de Kearns Sayre es un tipo de enfermedad mitocondrial que se caracteriza por la presencia de la oftalmoplejía externa progresiva, retinitis pigmentaria y comienzo de los síntomas antes de los 20 años. Además debe presentar uno de estos criterios menores: bloqueo de la conducción cardíaca, síndrome cerebeloso o proteinorraquia mayor de 100 mg/dl. Existen formas incompletas de la enfermedad. El pronóstico y la supervivencia de esta enfermedad están ligados en muchas ocasiones a la evolución de las alteraciones cardíacas.Presentamos el caso de un síndrome de Kearns Sayre incompleto con alteraciones de la conducción cardíaca y evolución hacia el bloqueo auriculoventricular completo. Revisamos las indicaciones de implantación de marcapasos definitivos en estos pacientes (AU)

Kearns-Sayre syndrome: presenting with vocal fold palsy.

We present the first documented case of Kearns-Sayre syndrome presenting with a vocal fold palsy.

[Kearns-Sayre syndrome]. / Kearns-Sayre-szindróma.

The authors describe a rare group of symptoms, resulting in progressive external ophthalmoplegia, retinal pigment epithelial dysfunction and cardiac conduction disturbance. The illness belongs to the group of mitochondrial cytopathies. The case extends over the diagnostic possibilities, with special attention on electromyographic diagnostic, clinical symptoms, pathomechanism of the disease, and the therapic possibilities.

Inhalation anaesthesia and the Kearns-Sayre syndrome.

Kearns-Sayre syndrome is an extremely rare mitochondrial myopathy, characterised by retinitis pigmentosa associated with progressive external ophthalmoplegia. Cardiac conduction abnormalities are common and range from bundle branch block to third degree atrioventricular block. Generalised degeneration of the central nervous system has also been reported. We describe the anaesthetic management of a child afflicted by this syndrome. The major anaesthetic complication in this disease is sudden third degree atrioventricular block which may lead to death in the absence of an artificial cardiac pacemaker.