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Congenital Central Hypoventilation Syndrome a Neurocristopathy with Disordered Respiratory Control and Autonomic Regulation

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Congenital Central Hypoventilation Syndrome a Neurocristopathy with Disordered Respiratory Control and Autonomic Regulation Congenital Central Hypoventilation Syndrome A Neurocristopathy with Disordered Respiratory Control and Autonomic Regulation Casey M. Rand, BSa, Michael S. Carroll, PhDa,b, Debra E. Weese-Mayer, MDa,b,* KEYWORDS PHOX2B Autonomic Respiratory CCHS Hirschsprung Neuroblastoma KEY POINTS Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy with disordered respiratory control and autonomic nervous system regulation. CCHS is caused by mutations in the PHOX2B gene, and the PHOX2B genotype/mutation antici- pates the CCHS phenotype, including the severity of hypoventilation, risk of sinus pauses, and risk of associated disorders including Hirschsprung disease and neural crest tumors. It is important to maintain a high index of suspicion in cases of unexplained alveolar hypoventilation, delayed recovery of spontaneous breathing after sedation or anesthesia, or in the event of severe respiratory infection, and unexplained seizures or neurocognitive delay. This will improve identifica- tion and diagnosis of milder CCHS cases and later onset/presentation cases, allowing for success- ful intervention. Early intervention and conservative management are key to long-term outcome and neurocognitive development. Research is underway to better understand the underlying mechanisms and identify targets for treatment advances and drug interventions. INTRODUCTION with autonomic nervous system dysregulation (ANSD), and a result of maldevelopment of neural Congenital central hypoventilation syndrome crest-derived cells (neurocristopathy). The first re- (CCHS) is a rare disorder of respiratory control ported description of CCHS was in 1970 by This work was supported in part by the Chicago Community Trust Foundation PHOX2B Patent Fund and Res- piratory & Autonomic Disorders of Infancy, Childhood, & Adulthood–Foundation for Research & Education (RADICA-FRE). a Center for Autonomic Medicine in Pediatrics (CAMP), Department of Pediatrics, Ann & Robert H. Lurie Children’s Hospital of Chicago, 225 East Chicago Avenue, Chicago, IL 60611-2605, USA; b Department of Pediatrics, Northwestern University Feinberg School of Medicine, 303 East Chicago Avenue, Chicago, IL 60611, USA * Corresponding author. E-mail addresses: [email protected]; [email protected] Clin Chest Med 35 (2014) 535–545 http://dx.doi.org/10.1016/j.ccm.2014.06.010 0272-5231/14/$ – see front matter Ó 2014 Elsevier Inc. All rights reserved. chestmed.theclinics.com 536 Rand et al Robert Mellins and colleagues.1 Despite a multi- hypoventilation) during sleep and, in more severely tude of case reports, large series were not pub- affected individuals, during wakefulness and lished until 1992.2 As of early 2014, laboratories sleep. These breathing complications occur des- from the United States, France, Italy, Japan, Ger- pite the lungs and airways being anatomically many, China, The Netherlands, and Australia have and physiologically normal. Conditions associated now collectively diagnosed approximately 1200 with CCHS reflecting anatomic ANSD include cases with PHOX2B mutation-confirmed CCHS. Hirschsprung disease (HSCR) and tumors of neu- However, the birth prevalence of CCHS is un- ral crest origin, in addition to a spectrum of symp- known, because demographically diverse, large, toms compatible with physiologic ANSD. CCHS is population-based studies have not been reported. a life-long disease. Because the milder cases of CCHS and later- onset (LO) CCHS may go unrecognized or mis- PHOX2B Gene Mutations diagnosed, it is difficult to estimate the true frequency of CCHS in the general population at Individuals with CCHS have a mutation in this time. PHOX2B, a gene that plays an important role in CCHS is characteristically diagnosed in the the development of the ANS. The normal PHOX2B newborn period. However, individuals can also gene has 20 repeats of the amino acid alanine. be diagnosed in childhood3–6 or adulthood,5,7–13 Approximately 90% of individuals with CCHS are depending on the severity of symptoms and the in- heterozygous for a PHOX2B polyalanine repeat quisivity of the patient, family, and medical team. expansion mutation (PARM), with expansions to Impaired breathing regulation (respiratory control) 24 to 33 alanine repeats on the affected allele,14 is the hallmark of CCHS. Individuals with CCHS genotypes of 20/24 to 20/33 (normal genotype is typically present with shallow breathing (alveolar 20/20; Fig. 1). The remaining 9% to 10% of Fig. 1. PHOX2B gene with location of all CCHS-associated mutations identified to date. Nearly all polyalanine repeat expansion mutations (PARMs) are located within the second polyalanine expansion region of exon 3 (shown in red). Nearly all NPARMs identified thus far have been found at the extreme 30 end of exon 2 or in exon 3. (Adapted from Weese-Mayer DE, Rand CM, Berry-Kravis EM, et al. Congenital central hypoventilation syn- drome from past to future: model for translational and transitional autonomic medicine. Pediatr Pulmonol 2009;44:526; with permission.) CCHS: A Neurocristopathy 537 individuals with CCHS and LO-CCHS have a or exon deletions makes prediction of phenotype different type of alteration in the PHOX2B gene, difficult in these cases, but thus far disease seems referred to as non-PARM (NPARM). These muta- to be less severe in these cases. Typically, dys- tions include missense, nonsense, frameshift, function of PHOX2B during development is en- and stop codon mutations, mostly occurring in ough to cause manifestation of disease from the exon 2 and exon 3 of PHOX2B. Fewer than 1% neonatal period; however, the less severe muta- of individuals with CCHS/LO-CCHS or CCHS-like tions may be “unmasked” by challenges to the symptoms will have whole gene or exon deletions respiratory system, such as respiratory infection of PHOX2B,15 and are phenotypically variable. or exposure to sedation, which can lead to fully Among PARMS, the 20/25, 20/26, and 20/27 manifest disease symptoms. genotypes, and among NPARMs, a 38-bp dele- tion at the site of the polyalanine repeat, remain Genotype–Phenotype Correlations the most frequently identified mutations. CCHS- The symptoms and severity of CCHS vary from PHOX2B related mutations have not been one individual to another (Fig. 2).20 This variation found in thoroughly screened control populations. is becoming clearer as these patients are studied Although de novo germline mutations cause the by PHOX2B genotype/mutation, such that repeat majority of CCHS cases, an autosomal-dominant length and PARM versus NPARM are related to inheritance pattern exists for CCHS. This includes disease severity. A rapidly expanding understand- somatic mosaicism, identified in a subset (5%– ing of the risks specific to the particular PHOX2B 16–18 25%) of parents of CCHS probands, as well mutation is allowing physicians and parents to as inheritance from a fully affected parent (with anticipate risks for continuous ventilation, pauses CCHS). in the heart rhythm, HSCR, neural crest tumors, PHOX2B Mutations in result in altered develop- and potential factors that influence autonomic ment and regulation of the ANS, primarily by regulation in individuals with CCHS. abnormal development in progenitors of early em- bryonic cells that form the neural crest (hence the Ventilatory dependence term neurocristopathy19). Individuals with the In individuals with PARMs, the need for continuous NPARMs are typically more severely affected ventilatory dependence has a direct relationship than individuals with the PARMs, and individuals with the length of the alanine expansions.3,17,21 with a greater number of alanine repeats are typi- Specifically, individuals with the 20/25 genotype cally more severely affected than those with fewer rarely require 24-hour ventilatory support; individ- (especially among the most common PARMs). The uals with the 20/26 genotype have variable awake small number of identified cases with whole-gene needs, depending on the level of activity; and Fig. 2. Signs and symptoms of CCHS-related ANS dysregulation. (From Weese-Mayer DE, Patwari PP, Rand CM, et al. Congenital central hypoventilation syndrome (CCHS) and PHOX2B mutations. Primer on the autonomic ner- vous system. 3rd edition. Oxford: Elsevier; 2012; with permission.) 538 Rand et al individuals with genotypes from 20/27 to 20/33 paraspinal ganglia or the adrenal glands. Neural very often require continuous ventilatory support. crest tumors in individuals with the NPARMs are LO-CCHS cases with the 20/24 or 20/25 typically neuroblastomas, in contrast with the gan- genotype5,7,8 have the mildest hypoventilation, glioneuromas and ganglioneuroblastomas in indi- presenting primarily after exposure to respiratory viduals with the longest PARMs (20/30–20/33). depressants or severe respiratory infection, and However, in 1 case a child with the 20/33 geno- may often be managed with nocturnal ventilatory type presented with a neuroblastoma. support only. In contrast with the PARMs, most in- dividuals with NPARMs require continuous ventila- ANSD tory support (Fig. 3).21 An increased number of symptoms of ANSD has been reported in association with PHOX2B geno- Hirschsprung disease and tumors of neural type in individuals with CCHS.17 These symptoms crest origin can include heart rhythm abnormalities, such as Some individuals with CCHS have anatomic/ prolonged asystoles (>3 seconds) necessitating a structural malformations including HSCR and cardiac pacemaker,22 altered gut motility even in tumors of neural crest origin. Overall,
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