Obstructive sleep apnea hypopnea syndrome and alveolar hypoventilation syndrome in motor neuron disease: A case report and literature review / 中南大学学报(医学版)

Objective:To investigate the clinical characteristics of a patient with motor neuron disease,which caused sleep-disordered breathing (SDB) and alveolar hypoventilation syndrome,and to improve the diagnosis rate for this disease.Methods:Retrospectively analyze the diagnosis and treatment process for a 52 year-old male patient,who was accepted by the Second Xiangya Hospital,Central South University because of dyspnea,shortness of breath and malaise for 4 months,and eventually was diagnosed as motor neuron disease associated with obstructive sleep apnea hypopnea syndrome and alveolar hypoventilation syndrome.In addition,we searched CNKI,Wanfang and PubMed databases to review relevant literature with keywords (motor neuron disease or amyotrophic lateral sclerosis or progressive bulbar palsy or progressive muscular atrophy or primary lateral sclerosis) AND (sleep apnea or sleep disordered breathing) from January 1990 to May 2017.Results:The major clinical manifestation of motor neuron disease induded impaired upper and lower motor neuron displayed with proximal musde weakness,musde tremor,amyotrophy,bulbar symptoms and pyramidal sign.It was a chronic,progressive disease with worse prognosis,low survival and difficult in diagnosis.Electroneuromyography was a vital way for diagnosis.Furthermore,sleep disordered breathing was common in patients with motor neuron disease,which was featured as decreased rapid eye movement sleep,increased awaking time,apnea and hypopnea.The main mechanism for sleep disordered breathing in motor neuron disease might be due to the disturbed central nervous system and paralysis of diaphragm and respiratory muscle.Moreover,the patient suffered from restrictive ventilatory dysfunction,alveolar hypoventilation and subsequent partial pressure of carbon dioxide and hypoxernia.Therefore,respiratory failure was the most frequent cause of death for patients with motor neuron disease.Non-invasive positive pressure ventilation was suggested to apply to such patients,whose forced vital capability was less than 75 percent of predicted value.Conclusion:Sleep disordered breathing is common in patients with motor neuron disease.Hence,polysomnography is suggested as a routine examination to confirm the potential complications and give timely therapy.Treatment with non-invasive positive pressure ventilation is important for patients to improve life qualit,survival rate and prognosis.

Síndrome de hipoventilación alveolar central congénita / Congenital central alveolar hypoventilation syndrome

ResumenIntroducción: El síndrome de hipoventilación alveolar central congénita (SHACC) es un raro trastorno respiratorio del dormir, aunque cada vez más frecuentemente diagnosticado en clínicas de sueño y servicios de neumología pediátrica. Si bien se desconoce su epidemiología, en la literatura médica existen cerca de 300 casos reportados, y su incidencia es de 1 caso por cada 200,000 recién nacidos vivos. Se caracteriza por hipoventilación alveolar que se presenta o empeora durante el sueño. Es secundario a la disminución/ausencia de la respuesta ventilatoria a la hipercapnia o hipoxemia, y en el 90% de los casos es debido a una mutación tipo PARM del gen PHOX2B. Su tratamiento incluye ventilación mecánica y marcapasos diafragmático. Si la terapéutica no se inicia en forma temprana, el paciente desarrollará insuficiencia respiratoria crónica, hipertensión arterial pulmonar, cor pulmonale y la muerte.Casos clínicos: Se presentan tres casos de SHACC diagnosticados, tratados y en seguimiento en la Clínica de Trastornos Respiratorios del Dormir del Instituto Nacional de Enfermedades Respiratorias.Conclusiones: El diagnóstico temprano es importante para el inicio del soporte ventilatorio, y para prevenir el desarrollo de complicaciones y reducir la mortalidad.

AbstractBackground: Congenital central alveolar hypoventilation syndrome (CCAHS) is a rare sleep-related breathing disorder. Although increasingly frequently diagnosed in sleep clinics and pediatric pulmonology services, its epidemiology is not known. There are about 300 reported cases reported in the literature with an incidence of 1 case per 200,000 live births. CCAHS is characterized by alveolar hypoventilation that occurs or worsens during sleep and is secondary to a reduction/absence of the ventilatory response to hypercapnia and/or hypoxemia. In 90% of the cases it is due to a PARM-type mutation of the PHOX2B gene. Treatment includes mechanical ventilation and diaphragmatic pacemaker. If therapy is not initiated promptly the patient can evolve to chronic respiratory failure, pulmonary hypertension, cor pulmonale and death.Case reports: In this paper we present three cases of CCAHS diagnosed, treated and followed up at the Sleep Disorders Clinic of the National Institute of Respiratory Diseases in Mexico.Conclusions: Early diagnosis is important to initiate ventilatory support so as to prevent any complications and to reduce mortality.

Análisis de factores relacionados con hipercapnia crónica en la distrofia miotónica / Analysis of factors associated with chronic hypercapnia in patients with myotonic dystrophy

La distrofia miotónica (DM) es la distrofia muscular más común en adultos. Diversos factores pueden explicar la retención crónica de CO2. La selección de pacientes, diferentes estadios evolutivos y formas de evaluación, pueden explicar los resultados disímiles al respecto. Nuestros objetivos fueron caracterizar la función respiratoria y analizar los factores relacionados con la retención crónica de CO2 en la DM. Se incluyeron 27 pacientes ambulatorios consecutivos, estables clínicamente y se los agrupó como normocápnicos e hipercápnicos (PaCO2 ≥ 43 mm Hg). Se determinaron capacidad vital forzada (FVC), presiones estáticas máximas, tiempo de apnea voluntaria, escala de Epworth y gases arteriales. La quimiosensibilidad al CO2 se evaluó mediante la reinhalación de CO2 (método de Read). La pendiente ∆P0.1/∆PCO2 expresa la quimiosensibilidad al CO2. El 59.3% tenían hipercapnia. La FVC y la fuerza muscular respiratoria fueron normales o mostraron disminución leve a moderada, sin diferencias significativas en ambos grupos. La inadecuada respuesta al CO2 (pendientes ∆P0.1/∆PCO2 bajas (< 0.1 cmH2O/mm Hg) o planas) se asoció con hipercapnia (p < 0.005) y ésta significó un riesgo 11.6 veces mayor de inadecuada respuesta al CO2. El grupo con pendiente ∆P0.1/∆PCO2 baja-plana mostró mayor PaCO2 (p = 0.0017) y tiempo de apnea voluntaria más prolongado (p = 0.002). Concluimos que, en nuestros pacientes con DM, la hipercapnia crónica se asoció a la presencia de anomalías del control central de la respiración. Estos resultados permiten explicar los informes previos que describen la llamativa ocurrencia de insuficiencia respiratoria postoperatoria y las dificultades en el proceso de desvinculación de asistencia ventilatoria mecánica en estos pacientes.

Myotonic dystrophy (DM) is the most common dystrophy in adults. Several factors may explain the chronic CO2 retention. The selection of patients, different clinical stages and evaluation forms may explain the differing results obtained. Our objectives were to characterize respiratory function and to evaluate factors associated with chronic retention of CO2 in DM. We included 27 consecutive ambulatory and stable patients who were allocated into normocapnic and hypercapnic groups (PaCO2 ≥ 43 mmHg). Forced vital capacity (FVC), maximum static pressure, voluntary apnea time, Epworth scale and arterial blood gases were measured. The CO2 chemosensitivity was assessed using CO2 rebreathing (Read method). The slope ΔP0.1/ΔPCO2 expressed the CO2 chemosensitivity. A 59.3% (16/27) presented hypercapnia. FVC and respiratory muscle strength were normal or showed mild to moderate decrease. No significant differences in these variables were found in both groups. Inadequate response to CO2 (slope ΔP0.1/ΔPCO2 low (< 0.1 cm H2O/mmHg) or flat) was associated with hypercapnia (p < 0.005). Chronic retention of CO2 represented 11.56 times higher risk of inadequate response to CO2. The group with low-flat slope ΔP0.1/ΔPCO2 showed higher PaCO2 (p = 0.0017) and more prolonged voluntary apnea time (p = 0.002). We conclude that in our patients with DM, chronic CO2 retention was associated with the presence of abnormalities of the central control of breathing. Our results allow explaining previous reports describing the striking frequency of postoperative respiratory failure and difficulties in the process of weaning from mechanical ventilation.

A Case of Ondine's Curse with Hirschsprung Disease

Ondine's curse, also called congenital central alveolar hypoventilation, is a rare disorder involving failed automatic control of respiration in the absence of cardiopulmonary disease, resulting in inadequate ventilation with progressive hypercapnia and hypoxia during sleep. Although the exact pathophysiological mechanism remains unknown, it is thought that congenital defects in central chemoreceptor that originates from the neural crest cells may be responsible. This syndrome is often reported in association with Hirschsprung disease, and their co-occurrence suggests a common etiology, involving abnormal distribution and/or migration of neutral crest cells. We report a case of Ondine's curse with Hirschsprung disease in a 1-day-old neonate required endotracheal intubation and assisted ventilation.

Anesthetic Experience of a Patient with Chronic Hypoventilation Syndrome: A case report / 대한마취과학회지

Alveolar hypoventilation exists by definition when arterial PaCO2 increases above the normal range of 37 to 42 mmHg, but in clinically important hypoventilation syndromes PaCO2 is generally in the range of 50 to 80 mmHg. The management of chronic hypoventilation must be individualized to the patient's particular disorder, circumstances and need. This is a case report of anesthetic management of a 63-year-old woman with central alveolar hypoventilation (CAH) secondary to cerebral infarction. For hip surgery epidural anesthesia with 0.5% bupivacaine was performed and doxapram was applied to maintain respiratory drive. The anesthetic experience with a brief review of literature is reported.

A case of juvenile form Pompe's disease manifested as chronic alveolar hypoventilation

We describe a case of the juvenile form of Pompe's disease that presented as primary alveolar hypoventilation due to respiratory muscle involvement. This 17-year-old girl had been asymptomatic until this admission, although she had a delayed puberty. Arterial blood gas analysis, pulmonary function test as well as physical findings were compatible with chronic alveolar hypoventilation syndrome. Since she had lower extremity muscle weakness and pseudomyotonic discharge on electromyography a muscle biopsy was done, which revealed glycogen storage disease. The patient was managed successfully with nasal intermittent positive pressure ventilation.