ABSTRACT
El Síndrome de Treacher Collins (STC) es una enfermedad congénita del desarrollo craneofacial, siendo una complicación frecuente la obstrucción de la vía aérea. Objetivo: Describir clínicamente tres casos de STC y sus hallazgos polisomnográficos. Diseño: Estudio observacional, descriptivo y retrospectivo. Revisión de fichas clínicas y polisomnografías (PSG). Resultados: Se incluyeron tres pacientes con STC, de 1, 17 y 20 años, dos hombres. Todos presentaron malformaciones faciales compatibles con el STC. El paciente menor tuvo apneas desde el nacimiento. En las PSG, todos presentaron eficiencia del sueño disminuida e índice de microdespertares aumentado. Solo un paciente tuvo diagnóstico de Síndrome de Apnea/Hipoapnea Obstructiva del Sueño (SAHOS) severo. Conclusiones: Aún cuando las anomalías craneofaciales no difirieron entre los pacientes, hubo sólo un caso de SAHOS severo. Las otras alteraciones descritas en la PSG afectan la calidad de vida, siendo relevante la búsqueda activa de trastornos respiratorios del sueño en estos pacientes.
Treacher Collins Syndrome (STC) is a congenital craniofacial disorder, being the airway obstruction a frequent complication. Objective: To describe clinical and polysomnographic findings of three cases with STC. Methods: An observational, descriptive and retrospective study. Review of clinical records and nocturnal polysomnography was carried out. Results: Three patients with STC were included of 1, 17 and 20 years old, two were males. All of them with facial malformations compatible with STC. Only the youngest presented apneas since birth. All patients had decreased sleep efficiency and increased arousal index. Only one patient presented with severe Obstructive Sleep Apnea Syndrome (OSAS). Conclusions: Despite the fact that all the patients had similar craniofacial anomalies, only one presented with severe OSAS. The other abnormalities described in the polysomnography affect the quality of life, being relevant performing an active screening of breathing-related sleep disorders in these patients.
Subject(s)
Humans , Male , Female , Infant , Adolescent , Sleep Wake Disorders/diagnosis , Sleep Wake Disorders/etiology , Polysomnography/methods , Mandibulofacial Dysostosis/complications , Phenotype , Retrospective Studies , Sleep Apnea, Obstructive/etiologyABSTRACT
Pneumococcal meningitis produces several inflammatory disorders in susceptible subjects. A worsening of meningitis can occur on the fourth day of evolution in relation with the withdrawal of steroids. Other complications include the development of inflammatory signs in the post-acute stage of infection associated with disseminated vasculitis of the cerebral blood vessels and, even later, an autoimmune chronic meningitis. All these inflammatory complications are well controlled with the use of steroids. We report a 53-year-old woman with pneumococcal meningitis that had a good response to treatment with antibiotics and steroids. On the four day, after the steroids were discontinued, she complained of headache, became confused, and had an abnormal cerebrospinal fluid (CSF), report CT angiography showed signs of arteritis. She improved when the steroids were re-started. She was discharged in good condition but after slow tapering of the steroids over a four-month period she had a relapse of all her symptoms and had a gait disturbance. On readmission, she had an inflammatory CSF, there were no signs of infection and the cerebral MRI showed meningeal thickening with ventricular space enlargement. She improved again with steroids and she is now well on high-dose steroids but deteriorates each time the steroids are stopped. She experienced both acute and sub-acute inflammatory responses and finally developed a chronic meningitis responsive, and is dependent on steroids.