Escobar Syndrome-An Multidisciplinary Approach for an Excellent Outcome With 3 Years of Follow-Up.

This case report intends to provide the facial characteristics of Escobar syndrome and to describe the orthodontic treatment of a 12-year-old female patient diagnosed with it. Escobar syndrome, a variant of the multiple pterygium syndrome, is a rare disorder with many systemic, facial, and oral manifestations.The patient presented with mixed dentition, severe dolichofacial pattern, increased lower facial height, convex profile, severe anterior open bite, maxillary hypoplasia, and mandibular retrognatism. The multidisciplinary approach included soft cleft palate repair, orthodontic treatment, orthognathic surgery, restorative cosmetic dentistry, speech therapy, and physiotherapy. Despite the limitations imposed by the syndrome, this report illustrates how the multidisciplinary treatment approach aided in the correction of occlusal function and facial esthetics and improvement in the quality of life of the patient with Escobar syndrome.

Growth-Friendly Spine Surgery in Escobar Syndrome.

BACKGROUND: The aims of this study were to characterize the spinal deformity of patients with Escobar syndrome, describe results of growth-friendly treatments, and compare these results with those of an idiopathic early-onset scoliosis (EOS) cohort to determine whether the axial stiffness in Escobar syndrome limited correction. METHODS: We used 2 multicenter databases to review the records of 8 patients with EOS associated with Escobar syndrome who had at least 2-year follow-up after initiation of growth-friendly treatment from 1990 to 2016. An idiopathic EOS cohort of 16 patients matched for age at surgery (±1 y), postoperative follow-up (±1 y), and initial curve magnitude (±10 degrees) was identified. A randomized 1:2 matching algorithm was applied (α=0.05). RESULTS: In the Escobar group, spinal deformity involved 7 to 13 vertebrae and ranged from no vertebral anomalies in 3 patients to multiple segmentation defects in 6 patients. Mean age at first surgery was 5 years (range, 1.4 to 7.8 y) with a mean follow-up of 7.5 years (range, 4.0 to 10 y). Mean major curve improved from 76 degrees at initial presentation, to 43 degrees at first instrumentation, to 37 degrees at final follow-up (both P<0.001). Mean pelvic obliquity improved from 16 degrees (range, 5 to 31 degrees) preoperatively to 4 degrees (range, 0 to 8 degrees) at final follow-up (P=0.005). There were no differences in the mean percentage of major curve correction between the idiopathic EOS and Escobar groups at the immediate postoperative visit (P=0.743) or final follow-up (P=0.511). There were no differences between the cohorts in T1-S1 height at initial presentation (P=0.129) or in growth per month (P=0.211). CONCLUSIONS: Multiple congenital fusions and spinal curve deformity are common in Escobar syndrome. Despite large areas of congenital fusion, growth-friendly constructs facilitate spinal growth and improve curve correction. These results are comparable to those in idiopathic EOS. LEVEL OF EVIDENCE: Level III-case-control study.

Malignant Hyperthermia: A Review.

Malignant hyperthermia is an uncommon, but potentially lethal condition that may be encountered during the perioperative period. There is wide variability in the manner in which malignant hyperthermia may manifest. For a patient to survive a malignant hyperthermia crisis, prompt recognition and treatment is of paramount importance. Perioperative nurses play a pivotal role in the successful management of malignant hyperthermia. The fictitious case study presented in this paper describes the identification, presentation, pathophysiology, and treatment of a general anesthesia patient with fulminant malignant hyperthermia.

Is webbing (pterygia) a constant feature in patients with Escobar syndrome?

We describe two unrelated patients aged 9 and 12 years. The first patient presented with multiple congenital contractures not associated with webbing (pterygia). Interestingly, his genetic testing showed the typical genotypic criteria of Escobar syndrome (CHRNG heterozygous mutation). The characteristics of the second child were compatible with the phenotypic and genotypic criteria for Escobar syndrome. Both patients manifested the typical facial features suggestive of Escobar syndrome. The aim of this paper is twofold: first, to illustrate that the absence of popliteal webbing is not a sufficient reason to exclude Escobar syndrome in patients with multiple contractures and second, dysmorphic facial features and the presence of certain radiological abnormalities might be considered baseline diagnostic tools in favor of this syndromic entity.

Hiperpirexia maligna / Malignant hyperpyrexia

Se revisa el tema de la hiperpirexia maligna y otros síndromes hipertérmicos. Tras una descripción de la fisiopatología se proponen pautas de diagnóstico, diagnóstico diferencial y tratamiento ante un aumento de la temperatura de un paciente. Dentro de esta entidad es fundamental el diagnóstico precoz y el tratamiento inmediato, el cual puede ser instaurado siguiendo una protocolización estricta, que incluye una distribución de las tareas entre varios componentes del equipo anestesicoquirúrgico, incluyendo la enfermería. La colaboración de varios profesionales es imprescindible. Se destaca la ausencia de seguimiento y apoyo a nivel nacional, y se aporta una dirección de correo electrónico para ayuda (AU)

This article reviews malignant hyperpyrexia and other hyperthermic syndromes. The physiopathology of these syndromes is described and strategies for their diagnosis, differential diagnosis and treatment are proposed. Early diagnosis and immediate treatment are essential. The latter can be initiated by following a strict protocol, which includes the distribution of tasks among the various components of the anesthesiology-surgical care team, including nurses. The collaboration of various professionals is essential. The lack of follow-up and national support is highlighted and an e-mail address for support is provided (AU)

[Pterigium colli: secondary surgical correction of one severe case]. / Pterygium colli: reprise d'une correction chirurgicale d'un cas sévère.

Congenital web neck is a deformity hardly ever reported in the English literature. It is usually associated to Ulrrich-Turner syndrome. There are several options to correct this deformity, but in severe cases complete correction of the web and the abnormal back hair is not always possible. We present our experience with a secondary case where previous butterfly method was employed, a combined procedure was used achieving a satisfactory result. We considered that this technique is useful and offers an important improvement of the contour.

Malignant hyperthermia.

Malignant hyperthermia (MH) is a rare genetic condition which may manifest for the first time during anaesthesia associated with a routine surgical procedure. Characterised initially by muscle rigidity, increased body temperature and metabolic acidosis, the syndrome may prove fatal unless prompt, effective treatment is administered. The sudden development of MH constitutes a medical emergency; hence it is essential that theatre practitioners are knowledgeable about the presenting symptoms and management of the condition.

[Use of Diprivan in muscular diseases and malignant hyperthermia]. / Utilisation du Diprivan dans les myopathies et l'hyperthermie maligne.

An unknown myopathy can be revealed by the administration of an anaesthetic agent. The symptoms are those of malignant hyperpyrexia (MH). The MH phenotype can be detected by means of contracture tests in vitro. All anaesthetics, excepting the triggering agents, can be given. The safety of propofol as an induction and maintenance agent in this category of patients has been demonstrated. When the presence of a myopathy is known before an anaesthetic, the administration of succinylcholine associated or not with a halogenated inhalational agent carries a risk of severe complication. Among the anaesthetic agents having little effect on the skeletal muscle, propofol seems interesting, also because of its pharmacokinetic properties. Myopathy is difficult to diagnose, either because the patient undergoes surgery before being symptomatic or because he is only a carrier of MH. In case of an abnormal reaction following the administration of recognized triggering agents or the occurrence of MH, the procedure should be discontinued. In case of absolute necessity, the procedure may be continued but with non-triggering agents only.

Rewarming following hypothermic cardiopulmonary bypass in the malignant hyperthermia-susceptible patient: implications for diagnosis and perioperative management.

A 55-year-old, malignant hyperthermia-susceptible patient underwent myocardial revascularization without incident. Six hours postoperatively, he developed what was initially diagnosed as an MH crisis, for which he received intravenous dantrolene. The resultant muscle weakness prolonged the duration of postoperative mechanical ventilation and likely contributed to the development of a postoperative pneumonia. Plasma dantrolene levels were measured for the first 48 hours postoperatively and correlated with clinical findings. On reviewing the patient's perioperative course, it was felt that the hypermetabolic state was not due to MH. The patient's pattern of rewarming following hypothermic cardiopulmonary bypass was similar to non-MH-susceptible patients. Because of the difficulty in diagnosing a MH crisis after hypothermic bypass, it is recommended that patients receive prophylactic dantrolene preoperatively and after bypass. Nondepolarizing muscle relaxants should be given postoperatively to prevent shivering and respiratory acidosis while patients rewarm.