Tratamiento anestésico de una paciente con síndrome de Ellis-Van Creveld / Anesthesia in a patient with Ellis-van Creveld syndrome

INTRODUCCIÓN: El síndrome de Ellis-Van Creveld es una enfermedad rara del desarrollo, perteneciente al grupo de las displasias condroectodérmicas. CASO CLÍNICO: Mujer de 32 años diagnosticada de síndrome de Ellis van Creveld, programada para cesárea. Carecía de patología cardiaca. Se realizó un bloqueo subaracnoideo pero tras la comprobación de que no había bloqueo sensitivo, se decidió anestesia general. Tanto la cesárea como el procedimiento anestésico trascurrieron sin incidencias. DISCUSIÓN: Las manifestaciones clínicas del síndrome de Ellis van Creveld son enanismo con extremidades muy cortas, polidactilia postaxial, tórax pequeño, displasia ungueal, alteraciones de la boca y labios y anomalías cardiacas. El diagnóstico es clínico-radiológico. El tratamiento viene dado por la corrección de las alteraciones cardiacas y el tratamiento ortopédico. La morbilidad perioperatoria puede venir dada por las dificultades en el manejo de la vía aérea. Es necesaria la realización de una ecocardiografía preoperatoria para valorar la función cardiaca y concretar las anormalidades anatómicas. Las anormalidades torácicas también pueden dificultar la ventilación mecánica, incluido el riesgo de barotrauma. El manejo intraoperatorio debe basarse en un rápido control de la vía aérea, con prevención de la broncoaspiración. Debe evitarse la inestabilidad hemodinámica y la depresión miocárdica. En el postoperatorio, es primordial el correcto manejo de la analgesia y la prevención de episodios cardiorrespiratorios desfavorables(AU)

Ellis-van Creveld syndrome is a rare type of developmental chondroectodermal dysplasia. We report the case of a 32-year-old woman with this syndrome who was scheduled for cesarean section. She had no related heart defect. A spinal block was attempted but after confirming that no sensory blockade had been achieved, general anesthesia was administered. Both the operation and the anesthetic procedure were without complications. The clinical manifestations of Ellis-van Creveld syndrome are short-limbed dwarfism, postaxial polydactyly, fingernail dysplasia, cleft palate and lips, and heart defects. Diagnosis is based on clinical manifestations and radiography. Treatment involves correction of heart defects and orthopedic problems. Perioperative airway management problems may develop. A preoperative echocardiogram should be done to assess heart function and ascertain anatomical abnormalities. Thoracic deformities may make mechanical ventilation difficult and there is risk of barotrauma. Intraoperative management requires rapid control of the airway and prevention of bronchial aspiration. Vigilance in preventing hemodynamic instability and myocardial depression is essential. Postoperative analgesia must be managed carefully and adverse cardiorespiratory events avoided(AU)

Growth hormone analysis and treatment in Ellis-van Creveld syndrome.

Little is known on growth, growth hormone (GH) levels and GH treatment in patients with Ellis-van Creveld syndrome (EvC). The aim of the present study was to assess growth, growth hormone status and the possible effectiveness of GH treatment in literature and in a small series of EvC patients. A review of literature indicated retarded growth for most EvC patients (-2 to -4.5 SDS) and minimal data on GH levels or treatment which did not allow any conclusion. We studied eight EvC patients, seven of whom were treated with GH. Four were GH deficient (GHD) and four were GH sufficient. In all patients treated with GH, first year growth velocity increased. In three of the four GHD and in one GH-sufficient patient a gain in height SDS was noted. In the present small EvC series GHD occurred more often than expected. Patient acquisition through the Growth Hormone Database will have caused a significant bias, but the present results indicate that GH treatment may improve growth in at least some patients with EvC. Therefore we conclude that EvC patients may benefit from being tested for GHD and, if indicated, treated. In addition a prospective study to evaluate GH status and linear growth in patients with EvC as well as the potential effectiveness of GH treatment is warranted.