Central sleep apnea in patients with pontine tegmental cap dysplasia treated with supplemental oxygen: a case report.

This is the first case report of sleep-disordered breathing in patients with pontine tegmental cap dysplasia, a very rare neurological disorder characterized by an anatomic malformation in the pons. Patients present with hypotonia, cognitive dysfunction, and cranial nerve palsies (eg, hearing loss, trigeminal anesthesia, and swallow dysfunction). Extensive studies have demonstrated the relevance of different pontine neuronal nuclei in breathing regulation, which are structurally abnormal in pontine tegmental cap dysplasia. We present detailed polysomnography data for 3 patients aged 41 years, 20 years, and 1.5 years revealing significant central sleep apnea. We discuss our experience with managing their sleep-disordered breathing in the setting of multiple cranial nerve palsies and corneal anesthesia, and its relative contraindication of noninvasive positive pressure ventilation treatment. CITATION: Ju Wang J-D, Doherty D, Ramirez J-M, Chen M. Central sleep apnea in patients with pontine tegmental cap dysplasia treated with supplemental oxygen: a case report. J Clin Sleep Med. 2023;19(4):843-849.

Sleep and Breathing Disturbances in Children With Leigh Syndrome: A Comparative Study.

BACKGROUND: Leigh syndrome (LS) is a progressive neurodegenerative mitochondrial disease characterized by necrotizing lesions affecting different parts of the central nervous system, especially in the brainstem and basal ganglia. Lesions in this area may involve respiratory and sleep centers, resulting in the clinically significant disturbances seen-but poorly characterized-in LS. The purpose of the present study is to characterize and compare the physiologic responses to respiratory disturbances quantified by polysomnography metrics of children with LS with age-sex- and apnea-hypopnea index (AHI)-matched patients with obstructive sleep apnea (OSA), a common clinical population with similar burden of sleep-disordered breathing. METHODS: Retrospective comparative study of polysomnographic data from six patients with LS were reviewed and compared with 18 age-sex-AHI-matched patients with OSA, with particular attention to cardiorespiratory and sleep architecture metrics. RESULTS: Sleep architecture and stage duration were conserved in LS and OSA groups, but increased wake after sleep onset was seen among the first group. The LS group exhibited both obstructive and central sleep apnea. The group also had significantly greater values of heart rate, ≥3% oxygen desaturation index, and lower values of sleep efficiency, respiratory arousal index, and total sleep time when compared with the OSA group. CONCLUSIONS: Patients with LS exhibited significantly more sleep-related cardiorespiratory disturbances and sleep fragmentation when compared with neurotypical children with OSA. Given that these findings are plausibly detrimental to health and development, sleep evaluation in patients with similar conditions should be encouraged for early management.

COVID-19: la pandemia por el nuevo virus SARS-CoV-2.

During the first weeks of 2020, cases of SARS-CoV-2 began to be reported outside of China, with a rapid increase in cases and deaths worldwide. SARS-CoV-2 is a positive single-stranded RNA virus, encased in a lipid bilayer derived from the host cell membrane and consists of four structural proteins (S, M, E and N), plus a haemagglutinin-sterase. The binding of the S protein to the ECA2 receptor allows the entry of the virus into the host cell and is a potential therapeutic target. 81% of patients develop mild symptoms, 14% have severe symptoms and 5% require intensive care management. Fever is the most frequent symptom, followed by cough and dyspnea. Most patients do not present leukocytosis, but they do present lymphopenia with sputum cultures that do not show other pathogens. In lung biopsies of severe patients, the most noticeable finding is diffuse alveolar damage. Radiologically, ground glass and alveolar patterns are observed; the lesions being predominantly basal, subpleural, and posterior, with a multifocal peripheral distribution, more affecting the right lower lobe. There is a marked inflammatory response, up to the cytokine storm, in which anti-inflammatory treatment with pulse therapy with methylprednisolone would be indicated. Although there are no large-scale studies regarding the use of chloroquine / hydroxychloroquine, due to the global situation, its use has been authorized for its anti-SARS-CoV-2 and anti-inflammatory effect, which can be potentiated with the use of azithromycin.

Durante las primeras semanas de 2020 se comenzaron a informar casos de personas con SARS-CoV-2 fuera de China, con un rápido aumento de casos y muertes en todo el mundo. El SARS-CoV-2 es un virus ARN monocatenario positivo, envuelto en una bicapa lipídica derivada de la membrana celular del huésped y constituido por cuatro proteínas estructurales (S, M, E y N), además de una hemaglutinina-esterasa. La unión de la proteína S con el receptor de enzima convertidora de angiotensina 2 (ECA2) permite la entrada del virus a la célula huésped y es una potencial diana terapéutica. El 81% de los enfermos hace cuadro leve; el 14%, grave; y el 5% requiere cuidados intensivos. La fiebre es el síntoma más frecuente, seguido de tos y disnea. La mayoría de los pacientes no presentan leucocitosis pero sí linfopenia, con cultivos de esputo que no muestran otros patógenos. En las biopsias de pulmón de pacientes graves el hallazgo más llamativo es el daño alveolar difuso. Radiológicamente se aprecian patrones de vidrio esmerilado y alveolar, siendo las lesiones de predominio basal, subpleural y posterior, con una distribución periférica multifocal, afectando más el lóbulo inferior derecho. Hay una marcada respuesta inflamatoria, que llega hasta la tormenta de citoquinas, en la que el tratamiento antiinflamatorio con terapia de pulso con metilprednisolona estaría indicado. Aunque no existan estudios en gran escala respecto al uso de cloroquina/hidroxicloroquina, debido a la situación mundial se ha autorizado su uso por su efecto anti SARS-CoV-2 y anti-inflamatorio, el cual puede ser potenciado con el uso de azitromicina.

COVID-19: la pandemia por el nuevo virus SARS-CoV-2

RESUMEN Durante las primeras semanas de 2020 se comenzaron a informar casos de personas con SARS-CoV-2 fuera de China, con un rápido aumento de casos y muertes en todo el mundo. El SARS-CoV-2 es un virus ARN monocatenario positivo, envuelto en una bicapa lipídica derivada de la membrana celular del huésped y constituido por cuatro proteínas estructurales (S, M, E y N), además de una hemaglutinina-esterasa. La unión de la proteína S con el receptor de enzima convertidora de angiotensina 2 (ECA2) permite la entrada del virus a la célula huésped y es una potencial diana terapéutica. El 81% de los enfermos hace cuadro leve; el 14%, grave; y el 5% requiere cuidados intensivos. La fiebre es el síntoma más frecuente, seguido de tos y disnea. La mayoría de los pacientes no presentan leucocitosis pero sí linfopenia, con cultivos de esputo que no muestran otros patógenos. En las biopsias de pulmón de pacientes graves el hallazgo más llamativo es el daño alveolar difuso. Radiológicamente se aprecian patrones de vidrio esmerilado y alveolar, siendo las lesiones de predominio basal, subpleural y posterior, con una distribución periférica multifocal, afectando más el lóbulo inferior derecho. Hay una marcada respuesta inflamatoria, que llega hasta la tormenta de citoquinas, en la que el tratamiento antiinflamatorio con terapia de pulso con metilprednisolona estaría indicado. Aunque no existan estudios en gran escala respecto al uso de cloroquina/hidroxicloroquina, debido a la situación mundial se ha autorizado su uso por su efecto anti SARS-CoV-2 y anti-inflamatorio, el cual puede ser potenciado con el uso de azitromicina.

ABSTRACT During the first weeks of 2020, cases of SARS-CoV-2 began to be reported outside of China, with a rapid increase in cases and deaths worldwide. SARS-CoV-2 is a positive single-stranded RNA virus, encased in a lipid bilayer derived from the host cell membrane and consists of four structural proteins (S, M, E and N), plus a haemagglutinin-sterase. The binding of the S protein to the ECA2 receptor allows the entry of the virus into the host cell and is a potential therapeutic target. 81% of patients develop mild symptoms, 14% have severe symptoms and 5% require intensive care management. Fever is the most frequent symptom, followed by cough and dyspnea. Most patients do not present leukocytosis, but they do present lymphopenia with sputum cultures that do not show other pathogens. In lung biopsies of severe patients, the most noticeable finding is diffuse alveolar damage. Radiologically, ground glass and alveolar patterns are observed; the lesions being predominantly basal, subpleural, and posterior, with a multifocal peripheral distribution, more affecting the right lower lobe. There is a marked inflammatory response, up to the cytokine storm, in which anti-inflammatory treatment with pulse therapy with methylprednisolone would be indicated. Although there are no large-scale studies regarding the use of chloroquine / hydroxychloroquine, due to the global situation, its use has been authorized for its anti-SARS-CoV-2 and anti-inflammatory effect, which can be potentiated with the use of azithromycin.