Humans ; Sleep Apnea, Central/therapy* ; Hypoventilation/congenital* ; Homeodomain Proteins

Two children with late-onset congenital central hypoventilation syndrome were reported, one of whom was male and had no abnormal manifestations after birth, respiratory failure occurs at the age of 1 year and 6 months. After being hospitalized, he was treated with oxygen inhalation and non-invasive ventilation, but carbon dioxide retention could not be corrected. After one month of tracheal intubation, he was failure to wean from ventilator, so tracheostomy was performed. He needs a ventilator to help breath while sleeping, and can breath autonomously during the day without ventilator. The other case was a female, with no abnormalities after birth. At the age of 11 months, she developed respiratory failure. During sleep, the child needs non-invasive assisted ventilation through a nasal mask, and during the day, she breathed autonomously.Two patients were followed up forever 2 years and their growth and development were normal.
Humans ; Child ; Male ; Female ; Infant ; Sleep Apnea, Central/therapy* ; Respiration, Artificial ; Hypoventilation/congenital* ; Oxygen

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome (ROHHADS) is a rare multi-system disease, and delayed diagnosis and treatment may lead to catastrophic cardiopulmonary complications. As far as we know, no patient with ROHHADS has been reported in China, and this article reports a child with ROHHADS to improve the awareness of this disease among clinicians. A girl, aged 3 years, had the clinical manifestations of rapid weight gain, fever, disturbance of consciousness, and convulsion. The physical examination showed a body weight of 20 kg, somnolence, irregular breathing, and stiff neck. She had increased blood levels of prolactin and follicle-stimulating hormone and hyponatremia. The lumbar puncture showed an increased intracranial pressure. The brain MRI and magnetic resonance venography showed symmetrical lesions in the periventricular region and venous thrombosis in the right transverse sinus and the superior sagittal sinus. The sleep monitoring showed hypopnea. The girl was finally diagnosed with ROHHADS and intracranial venous thrombosis. She recovered after symptomatic treatment including decreasing intracranial pressure, anticoagulation, and respiratory support. The possibility of ROHHADS should be considered for patients with unexplained obesity, fever, and hypoventilation, with or without central nervous system symptoms. Early diagnosis and standardized follow-up can improve the prognosis of children with ROHHADS.
Child ; Child, Preschool ; China ; Consciousness ; Female ; Humans ; Hypothalamic Diseases ; Hypoventilation ; Obesity

BACKGROUND AND PURPOSE: Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is the most common type of autoimmune encephalitis. This study aimed to explore the possible factors affecting the response to first-line treatments in patients with anti-NMDAR encephalitis. METHODS: We enrolled 29 patients who were diagnosed as anti-NMDAR encephalitis between January 1, 2015, and June 30, 2018. They were divided into the remission and nonremission groups according to their response to first-line treatments. The demographics, clinical manifestations, main ancillary examinations, follow-up treatments, and prognosis of patients were recorded. The symptoms reported on in this study occurred before treatments or during the course of first-line treatments. RESULTS: There were 18 patients (62.07%) in the remission group and 11 patients (37.93%) in the nonremission group. Compared to the remission group, a higher proportion of the patients in the nonremission group exhibited involuntary movements, decreased consciousness, central hypoventilation, lung infection, and hypoalbuminemia. The nonremission group had a high incidence of increased intracranial pressure and significant elevations of the neutrophil-to-lymphocyte ratio in peripheral blood (NLR), aspartate aminotransferase, and fibrinogen. Six patients (54.55%) in the nonremission group received second-line immunotherapy. Only one patient (3.45%) died, which was due to multiple-organ failure. CONCLUSIONS: Anti-NMDAR-encephalitis patients with more symptoms—especially involuntary movements, disturbance of consciousness, central hypoventilation, and accompanying hypoalbuminemia and pulmonary infection—may respond poorly to first-line treatments. Positive second-line immunotherapy therefore needs to be considered. Admission to an intensive-care unit, increased cerebrospinal fluid pressure, and increased NLR might be the significant factors affecting the response to first-line treatments.
Anti-N-Methyl-D-Aspartate Receptor Encephalitis ; Aspartate Aminotransferases ; Cerebrospinal Fluid Pressure ; Consciousness ; Demography ; Dyskinesias ; Encephalitis ; Fibrinogen ; Follow-Up Studies ; Humans ; Hypoalbuminemia ; Hypoventilation ; Immunotherapy ; Incidence ; Intracranial Pressure ; Lung ; Prognosis

BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is a rare disorder characterized by alveolar hypoventilation and autonomic dysregulation. Patients with CCHS have adequate ventilation while awake but exhibit hypoventilation while asleep. More severely affected patients exhibit hypoventilation both when awake and when asleep. CASE: Here, we report a case of successful spinal anesthesia and postoperative epidural analgesia in a patient with CCHS who underwent orthostatic surgery. CONCLUSIONS: In patients with CCHS, anesthesia is used with the goal of minimizing respiratory depression to avoid prolonged mechanical ventilation. Regional anesthesia should be considered where appropriate. Continuous oxygen saturation and end-tidal carbon dioxide monitoring must be available.
Analgesia, Epidural ; Anesthesia ; Anesthesia, Conduction ; Anesthesia, Spinal ; Anoxia ; Carbon Dioxide ; Humans ; Hypoventilation ; Oxygen ; Respiration, Artificial ; Respiratory Insufficiency ; Ventilation

Central hypoventilation syndrome is a rare and fatal condition resulting from various central nervous system disorders that is characterized by a failure of automatic breathing. We report a case of central hypoventilation syndrome following posterior circulation stroke whose pulmonary function was improved by respiratory rehabilitation. A 59-year-old woman with a history of hemorrhagic stroke of the bilateral cerebellum was hospitalized due to pneumonia. A portable ventilator was applied via tracheostomy, recurrent episodes of apnea and hypercapnia impeded weaning. A respiratory rehabilitation program including chest wall range of motion exercise, air stacking exercise, neuromuscular electrical stimulation (NMES) on abdominal muscles, upper extremity ergometer, locomotor training, high-frequency chest wall oscillator, mechanical insufflation, and exsufflation was employed, as spirometry showed a severe restrictive pattern. A spontaneous breathing trial was started, and a portable ventilator was applied for 8 hours, only during nighttime, to prevent sudden apneic event. After 4 weeks of treatment, follow-up spirometry showed much improved respiratory parameters. This case suggests that respiratory rehabilitation can improve pulmonary function parameters and quality of life in central hypoventilation syndrome.
Abdominal Muscles ; Apnea ; Central Nervous System Diseases ; Cerebellum ; Electric Stimulation ; Female ; Follow-Up Studies ; Humans ; Hypercapnia ; Hypoventilation ; Insufflation ; Middle Aged ; Pneumonia ; Quality of Life ; Range of Motion, Articular ; Rehabilitation ; Respiration ; Respiratory Center ; Spirometry ; Stroke ; Thoracic Wall ; Tracheostomy ; Upper Extremity ; Ventilators, Mechanical ; Weaning

BACKGROUND: Firefighters are required to use self-contained breathing apparatus (SCBA), which impairs ventilatory mechanics. We hypothesized that firefighters have elevated arterial CO₂ when using SCBA. METHODS: Firefighters and controls performed a maximal exercise test on a cycle ergometer and two graded exercise tests (GXTs) at 25%, 50%, and 70% of their maximal aerobic power, once with a SCBA facemask and once with protective clothing and full SCBA. RESULTS: Respiratory rate increased more in controls than firefighters. Heart rate increased as a function of oxygen consumption (V.(O₂)) more in controls than firefighters. End-tidal CO₂ (ETCO₂) during the GXTs was not affected by work rate in either group for either condition but was higher in firefighters at all work rates in both GXTs. SCBA increased ETCO₂ in controls but not firefighters. CONCLUSIONS: The present study showed that when compared to controls, firefighters’ hypoventilate during a maximal test and GXT. The hypoventilation resulted in increased ETCO₂, and presumably increased arterial CO₂, during exertion. It is proposed that firefighters have altered CO₂ sensitivity due to voluntary hypoventilation during training and work. Confirmation of low CO₂ sensitivity and the consequence of this on performance and long-term health remain to be determined.
Exercise Test ; Firefighters* ; Heart Rate ; Humans ; Hypoventilation ; Mechanics ; Oxygen Consumption ; Protective Clothing ; Respiration* ; Respiratory Rate

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a disease that is characterized by acute psychiatric symptoms, seizures, and central hypoventilation. Patients with anti-NMDAR encephalitis exhibit speech alterations, insomnia, seizures, and movement disorders. We describe a previously healthy 6-year-old girl who presented with seizures, disorientation, and fever. Over the five weeks of treatment, the patient exhibited progressive neurologic symptoms, including a change in mental status. Her serum and cerebrospinal fluid contained high titers of antibodies against the NMDAR, and she was diagnosed with anti-NMDAR encephalitis. She was treated with plasmapheresis, steroid pulse therapy, intravenous immunoglobulins, and repeated doses of rituximab. After the patient was diagnosed with a concomitant ovarian teratoma, a unilateral salpingo-oophorectomy was performed. A histopathologic examination revealed that neuronal elements accounted for 60% of the resected ovarian teratoma. The patient's clinical symptoms and antibody titers improved after the surgical treatment and rituximab therapy. These observations suggested that patients with high titers of anti-NMDAR antibodies should be examined for the presence and quantity of neuronal components in concurrent ovarian teratomas.
Anti-N-Methyl-D-Aspartate Receptor Encephalitis ; Antibodies ; Cerebrospinal Fluid ; Child ; Encephalitis* ; Epilepsy ; Female ; Fever ; Humans ; Hypoventilation ; Immunoglobulins, Intravenous ; Movement Disorders ; Neurologic Manifestations ; Neurons* ; Plasmapheresis ; Rituximab ; Seizures ; Sleep Initiation and Maintenance Disorders ; Teratoma*

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a disease that is characterized by acute psychiatric symptoms, seizures, and central hypoventilation. Patients with anti-NMDAR encephalitis exhibit speech alterations, insomnia, seizures, and movement disorders. We describe a previously healthy 6-year-old girl who presented with seizures, disorientation, and fever. Over the five weeks of treatment, the patient exhibited progressive neurologic symptoms, including a change in mental status. Her serum and cerebrospinal fluid contained high titers of antibodies against the NMDAR, and she was diagnosed with anti-NMDAR encephalitis. She was treated with plasmapheresis, steroid pulse therapy, intravenous immunoglobulins, and repeated doses of rituximab. After the patient was diagnosed with a concomitant ovarian teratoma, a unilateral salpingo-oophorectomy was performed. A histopathologic examination revealed that neuronal elements accounted for 60% of the resected ovarian teratoma. The patient's clinical symptoms and antibody titers improved after the surgical treatment and rituximab therapy. These observations suggested that patients with high titers of anti-NMDAR antibodies should be examined for the presence and quantity of neuronal components in concurrent ovarian teratomas.
Anti-N-Methyl-D-Aspartate Receptor Encephalitis ; Antibodies ; Cerebrospinal Fluid ; Child ; Encephalitis* ; Epilepsy ; Female ; Fever ; Humans ; Hypoventilation ; Immunoglobulins, Intravenous ; Movement Disorders ; Neurologic Manifestations ; Neurons* ; Plasmapheresis ; Rituximab ; Seizures ; Sleep Initiation and Maintenance Disorders ; Teratoma*

Sleep-disordered breathing in children can include habitual snoring, obstructive hypoventilation, upper airway resistance syndrome, and obstructive sleep apnea. Obstructive hypoventilation in children is characterized by CO₂ retention caused by prolonged partial upper airway obstruction during sleep. To date, there have been few studies regarding the clinical significance and management strategies in pediatric obstructive hypoventilation, although it is a unique feature of pediatric sleep-disordered breathing. In this report, we describe two cases of obstructive hypoventilation that demonstrated improvement following upper airway surgery. These results suggest that upper airway surgery could be an additional treatment modality in obstructive hypoventilation.
Airway Obstruction ; Airway Resistance ; Child ; Humans ; Hypoventilation* ; Sleep Apnea Syndromes ; Sleep Apnea, Obstructive ; Snoring