Symptoma

Central Hypoventilation

Abstract Congenital central hypoventilation syndrome (CCHS) typically presents in the newborn period. [ncbi.nlm.nih.gov]

  • Developmental Delay

    On follow-up, the child manifested developmental delay and central hypoventilation syndrome during sleep. [ncbi.nlm.nih.gov]

  • Hypersomnia

    He suffered from recurrent pulmonary edema, acute convulsive seizures, hypersomnia, hyperphagia, obesity, impaired glucose tolerance test, and hypercapnia, diagnosed as LO-CHS/HD, and was successfully treated with nasal bi-level positive airway pressure [ncbi.nlm.nih.gov]

  • Intravenous Drugs

    Intravenous drugs were not used, but sevoflurane, a volatile anesthetic, was used. As a result, the recovery time from the end of the operation to returning to the ward was very short, only 18 minutes. [ncbi.nlm.nih.gov]

  • Pertussis

    We present a rare case of central hypoventilation secondary to pertussis encephalopathy occurring during childhood. [ncbi.nlm.nih.gov]

  • Overeating

    Abstract Congenital central hypoventilation syndrome (CCHS), a rare disorder typically presenting in the newborn period, results in over 90% of cases from PHOX2B polyalanine repeat mutations. [ncbi.nlm.nih.gov]

    Over 90% of patients with CCHS are heterozygous for a PARM in the PHOX2B gene, which can range from 24-33 alanines, the most common being 25, 26, and 27, referred to as 20/25, 20/26, 20/27, respectively. [emedicine.medscape.com]

    We tested whether or not an abnormal breathing pattern can be provoked by intense mental concentration in CCHS patients as this would be expected to disturb any voluntary control over breathing if present. [researchers.dellmed.utexas.edu]

  • Bradykinesia

    All patients had parkinsonism characterized by rigidity, bradykinesia, and resting and postural tremor. Bradykinesia and depression developed in the proband at age 43 years. He responded to levodopa in the initial stage only. [ncbi.nlm.nih.gov]

  • Dystonia

    Her respiratory complications included central hypoventilation secondary to brainstem involvement, and obstructive sleep apnoea due to obesity and muscle dystonia. [ncbi.nlm.nih.gov]

Diagnostic workup for pulmonary, cardiac, metabolic, sepsis and structural CNS diseases were negative. In view of persistent hypoventilation despite raised pCO(2) levels in absence of any sedation, the diagnosis of Idiopathic. [ncbi.nlm.nih.gov]

A brainstem MRI should be performed as part of this workup.38–41 In addition to CCHS, other potential congenital conditions associated with central hypoventilation include familial dysautonomia, Mobius syndrome, Pitt Hopkins syndrome, Prader-Willi syndrome [tandfonline.com]

Septic workup came out negative. Chest X-ray exhibited multiple infiltrates involving both lung fields, mainly in the perihilar area (Figure 1). Echocardiography showed patent foramen ovale with a bidirectional shunt, otherwise normal (Figure 2). [cureus.com]

  • Neurofibrillary Tangle

    Lewy bodies, neurofibrillary tangles, senile plaques, and other abnormal structures were not seen in the cortical and subcortical regions. [ncbi.nlm.nih.gov]

  • Gliosis

    Autopsy showed marked neuronal loss and gliosis in the substantia nigra and locus ceruleus. Lewy bodies, neurofibrillary tangles, senile plaques, and other abnormal structures were not seen in the cortical and subcortical regions. [ncbi.nlm.nih.gov]

There are no standardized protocols for the treatment of paraneoplastic brainstem encephalitis however, as in the present case, surgical resection and oncological treatment of the tumor is the first line treatment. [ncbi.nlm.nih.gov]

Early diagnosis and treatment are important to prevent serious complications caused by periods of low or no oxygen. Treatment Treatment focuses on providing breathing support, usually through the use of a respirator, or ventilator. [hopkinsmedicine.org]

Abstract Mechanical ventilation support and diaphragm pacing has improved the prognosis of patients with idiopathic congenital central hypoventilation syndrome (CCHS; Ondine's curse). However, severe bradyarrhythmias may occur. [ncbi.nlm.nih.gov]

Prognosis Children with CCHS are able to lead active lives but need close supervision while swimming or playing in pools, since their bodies may “forget” to breathe while underwater. [hopkinsmedicine.org]

Prognosis is variable and depends on the specific location of the lesion, and recovery is usually unpredictable. [hindawi.com]

PURPOSE: Prolonged postoperative hypoventilation presents a challenge to anesthesiologists with regard to assessing etiology and related treatment. [ncbi.nlm.nih.gov]

Historical note and terminology Congenital central alveolar hypoventilation syndrome was first described in 1970, and the genetic etiology was finally elucidated in 2003 (Mellins et al 1970; Amiel et al 2003). [medlink.com]

Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome. Pediatr Pulmonol. 2004;37:217-29. [ Links ] 10 Trang H, Dehan M, Beaufils F, Zaccaria I, Amiel J, Gaultier C. [scielo.br]

The exact epidemiology is unknown, but in the international literature there are almost 300 reported cases and an incidence of 1/200,000 live newborns have been reported in France2. [elsevier.es]

Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome. Pediatr Pulmonol, 37 (2004), pp. 217-229 [9] J. Amiel, B. Laudier, T. Attie-Bitach, H. Trang, L. de Pontual, B. Gener, et al. [analesdepediatria.org]

Recent reports have identified a similar clinical presentation beyond infancy called late-onset central hypoventilation syndrome (LO-CHS) as a disease continuum of CCHS with similar and overlapping pathophysiology. [ncbi.nlm.nih.gov]

CSA and hypoventilation syndromes are often considered separately, but pathophysiological aspects frequently overlap. An integrative approach helps to recognize underlying pathophysiological mechanisms and to choose adequate therapeutic strategies. [karger.com]

Although the exact pathophysiology of CCHS is unknown, research evidence suggests that defects in multiple physiological processes underlie the breathing and autonomic dysregulations caused by CCHS. [jcsm.aasm.org]

Obesity prevented successful DP without tracheostomy in 1 patient, and upper airway obstruction prevented success in another patient. [ncbi.nlm.nih.gov]

Early diagnosis and treatment are important to prevent serious complications caused by periods of low or no oxygen. Treatment Treatment focuses on providing breathing support, usually through the use of a respirator, or ventilator. [hopkinsmedicine.org]

Clinically, normalization of plasma lactate by a high-lipid diet did not prevent slowly progressive neurologic decline. [pediatrics.aappublications.org]

Central hypoventilation syndrome prevents the body from detecting increased carbon dioxide levels, meaning that it will not increase the breathing rate. The lack of necessary breathing can result in hypoxemia (a low level of oxygen in the blood). [columbiasurgery.org]

Use of tracheostomy tubes without balloon is recommended to allow for a leak sufficient for the use of a Passy–Muir valve that stimulates development of speech and prevents subglottic stenosis. [elsevier.es]