Symptoma

Congenital Pulmonary Hypoventilation

CCHS

Several case reports have noted that patients with CCHS have been found to suffer from hypoglycemic episodes, which frequently present as a seizure. [uthealth.influuent.utsystem.edu]

The clinical features present in a given patient depend in large part on how early the condition is detected. [inthemoment-mt.com]

CCHS patients usually present with hypoventilation and hypoxemia. [jcsm.aasm.org]

In another group it presents itself in the first months of life with life-threatening episodes and even respiratory arrest during sleep 1,5. [elsevier.es]

Condition Description Congenital central hypoventilation syndrome (CCHS) is a disorder of respiratory and autonomic regulation typically presenting in newborns. [egl-eurofins.com]

  • Shivering

    Dexmedetomidine, an alpha-2 agonist which has a sedative effect by reducing the activity in the locus coeruleus in the central nervous system, has been used as a perioperative adjunct drug to reduce complications such as agitation, delirium, shivering [jaclinicalreports.springeropen.com]

  • Pulmonary Disorder

    Offers a complete overview including basic cardiopulmonary anatomy and physiology, the pathophysiology of commonly encountered cardiac and pulmonary disorders, diagnostic tests and procedures, therapeutic interventions, pharmacology, physical therapy [books.google.com]

    Co-morbid medical conditions can also be responsible for hypoventilation such as a primary pulmonary disorder- e.g, emphysema or COPD (Chronic Obstructive Pulmonary Disease). [theravive.com]

  • Shoulder Pain

    All of our patients had intrathoracic phrenic nerve electrodes, and while shoulder pain can occur when the tidal volume is too high, the pain is relieved when the tidal volume is reduced. [karger.com]

  • Miosis

    Ocular manifestations are common, such as miosis, anisocoria, and abnormal responsiveness to light, as well as abnormal irides, strabismus, and lack of tears. [inthemoment-mt.com]

  • Lacrimation

    For instance, other possible autonomic nervous system dysfunctions include, but are not limited to, Hirschsprung disease, altered pain sensitivity, syncope, excessive sweating, and altered lacrimation [ 1, 2 ]. [scitechnol.com]

  • Agitated Delirium

    Dexmedetomidine, an alpha-2 agonist which has a sedative effect by reducing the activity in the locus coeruleus in the central nervous system, has been used as a perioperative adjunct drug to reduce complications such as agitation, delirium, shivering [jaclinicalreports.springeropen.com]

  • Enlarged Uterus

    Pregnancy may decrease ventilation due to the increased respiratory load from an enlarging uterus. Therefore, frequent monitoring to assess for adequate oxygenation and ventilation during both sleep and wakefulness is recommended in pregnancy. [dovepress.com]

Her subsequent genetic workup revealed that she had the autosomal dominant condition. She was heterozygous for 33 Polyalanine Repeats in the PHOX2B gene, specifically 20 repeats at one allele and 33 repeats at the other ( Table 1 ). [scitechnol.com]

  • Hypercapnia

    This hypoventilation is secondary to the decrease or lack of ventilatory response to hypercapnia or hypoxemia. [elsevier.es]

    These patients do not exhibit a normal ventilatory response to hypoxia or hypercapnia, but they may demonstrate an arousal response to hypercapnia overcome with Canadian Health&Care Mall. [inthemoment-mt.com]

    CCHS patients appear normal even with profound hypercapnia and hypoxemia. The hypoxia and hypercapnia are often only detected at a later stage when severe cyanosis and central nervous system depression have ensued. [dovepress.com]

    In addition, pulmonary function test, overnight polysomnography, arterial blood gas, and hypercapnia ventilatory response, and genetic screening for PHOX2B gene mutations were performed on living family members. [clinicaltrials.gov]

    In addition, severe hypercapnia may cause asterixis, myoclonus, and papilledema due to the increased intracranial pressure. [atmph.org]

  • Sinus Arrhythmia

    arrhythmia and transient abrupt asystoles, have been described. 11, 12 Annually performed 72-hour Holter monitoring may determine aberrant cardiac rhythms and sinus pauses that will necessitate bipolar cardiac pacemaker implantation. [sajch.org.za]

Early treatment and monitoring of hypoglycemia will prevent further complications for these populations. [uthealth.influuent.utsystem.edu]

Lists the latest drugs used for the treatment of cardiopulmonary disorders. Includes information on laboratory medicine and pediatrics to help you apply cardiopulmonary principles to practice. [books.google.com]

Treatment - Congenital central hypoventilation syndrome Patients generally require tracheostomy and lifetime mechanical ventilation on a ventilator in order to survive. [checkorphan.org]

The information is not intended to be a substitute for professional medical care, nor is it intended to be used as a basis for diagnosis or treatment. [socialstyrelsen.se]

The number of such cases has been increasing as better treatment has allowed more affected individuals to live into adulthood. [ghr.nlm.nih.gov]

Diagnosis - Congenital central hypoventilation syndrome Prognosis - Congenital central hypoventilation syndrome Most people with CCHS (unless they have the Late Onset form) do not survive infancy, unless they receive ventilatory assistance during sleep [checkorphan.org]

Prognosis is good after surgery. Prognosis is poor in neonates with obstructive TAPVR. Long term follow up is needed to assess restenosis and late arrhythmias. [hawaii.edu]

[…] definitive diagnosis that allows for early introduction of chronic artificial ventilatory support, facilitates parental acceptance of diagnosis and provides empowerment in the context of prenatal testing, and allows for anticipatory guidance and insight into prognosis [obgynkey.com]

Other associated features: esophageal dysmotility sensorineural hearing defect neuroblastoma or ganglioneuroma Treatment and prognosis The respiratory symptom is detected on the first day of birth with the patient quickly given ventilatory support while [radiopaedia.org]

In patients without ventilatory support the prognosis is poor, especially with elevated mortality rates during the first 3 months of life, which confirms that the respiratory center is more unstable at this age and that ventilatory support should be instituted [elsevier.es]

Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]

PHOX2B genetic testing should be immediately performed while evaluation of other potential etiologies for the alveolar hypoventilation are being pursued – exclusion of pulmonary, cardiac, or neuromuscular disease and brainstem lesions. [obgynkey.com]

[…] and Discontinuation 339 Oxygen Therapy and Toxicity 345 ProtocolDriven Care in Respiratory Therapy 351 Epidemiology Natural History 357 Prophylaxis 364 Chronic Thromboembolic Pulmonary Hypertension 375 Unusual Forms of Embolism 384 Pathogenesis and Etiology [books.google.com]

It is reported that central sleep apnea is a relatively common phenomenon in normal infants. 7 However, the frequency of central apnea events in this case was extremely high, suggestive of an unusual etiology, which was the reason for our considering [jcsm.aasm.org]

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]

Contents Complications and Discontinuation 339 Oxygen Therapy and Toxicity 345 ProtocolDriven Care in Respiratory Therapy 351 Epidemiology Natural History 357 Prophylaxis 364 Chronic Thromboembolic Pulmonary Hypertension 375 Unusual Forms of Embolism [books.google.com]

Vanderlaan M, Holbrook CR, Wang M, Tuell A, Gozal D (2004) Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome. PediatrPulmonol 37: 217-229. [omicsonline.org]

Epidemiology and History In 1970, Dr. [obgynkey.com]

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 France 2. [elsevier.es]

Epidemiologic survey of patients with congenital central hypoventilation syndrome in Japan. Pediatr Int. 2012;54:123–6. View Article PubMed Google Scholar Bittencourt LR, Pedrazzoli M, Yagihara F, et al. [jaclinicalreports.springeropen.com]

It integrates key concepts of pathophysiology, clinical manifestations, diagnostic tests and laboratory information and findings with clinically important medical and surgical interventions and pharmacologic therapies — then applies the material to physical [books.google.com]

Pathophysiology of sleep apnea. Physiol Rev 2010;90:47-112. [ PubMed ] Gupta A, Gupta Y. Glucocorticoid-induced myopathy: Pathophysiology, diagnosis, and treatment. [jtd.amegroups.com]

Fishman, Turino, and Bergofsky reviewed the clinical, pathophysiological, and biochemical features of the syndrome and many of the disease processes with which it may be associated (1). [annals.org]

Although 50% of patients with moderate-to-severe congestive heart failure are affected by significant Cheyne-Stokes respiration, its exact pathophysiology remains unclear. [ 1 ] Typically, over a period of one minute, a 10- to 20-second episode of apnoea [patient.info]

The exact pathophysiological mechanism of the disorder in respiratory control is not yet clear. [elsevier.es]

Early treatment and monitoring of hypoglycemia will prevent further complications for these populations. [uthealth.influuent.utsystem.edu]

[…] algorithm NYU ED Non-emergent - 0% Emergent/Primary Care Treatable - 0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health [medicbind.com]

Prevention of bacterial endocarditis. ‎ Page 303 - American Thoracic Society. Standards for the diagnosis and care of patients with chronic obstructive pulmonary disease (COPD) and asthma. ‎ [books.google.com]

Causes - Congenital central hypoventilation syndrome Prevention - Congenital central hypoventilation syndrome Genetic consuling and prenatal testing for pregnancies at increased risk is possible if the causative variant has been identified in an affected [checkorphan.org]