Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood

Pediatrics

Volumn 120, Issue 1, 2007, Pages

  Ize Ludlow, Diego ^a   Gray, Juliette A ^b   Sperling, Mark A ^a   Berry Kravis, Elizabeth M ^c   Milunsky, Jeff M ^d   Farooqi, I Sadaf ^b   Rand, Casey M ^c   Weese Mayer, Debra E ^c  

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

^c Rush Children's Hospital and Rush University Medical Center   (United States)

^d BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Alveolar hypoventilation; Autonomic nervous system dysregulation; BDNF gene; Hypothalamic dysfunction; NTRK2 gene; PHOX2B gene; Rapid onset obesity

Indexed keywords

BRAIN DERIVED NEUROTROPHIC FACTOR RECEPTOR; HOMEODOMAIN PROTEIN; PROTEIN PHOX2B; UNCLASSIFIED DRUG;

ARTICLE; AUTONOMIC DYSFUNCTION; BLOOD SAMPLING; CHILD; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COMPARATIVE GENOMIC HYBRIDIZATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPOTHALAMUS DISEASE; HYPOVENTILATION; MEDICAL RECORD REVIEW; OBESITY; PATIENT REFERRAL; PATIENT SELECTION; PHENOTYPE; PRIORITY JOURNAL;

AUTONOMIC NERVOUS SYSTEM DISEASES; BRAIN-DERIVED NEUROTROPHIC FACTOR; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; HYPOTHALAMIC DISEASES; HYPOVENTILATION; MALE; NERVE TISSUE PROTEINS; OBESITY; RECEPTOR, TRKB; SLEEP DISORDERS, INTRINSIC; SYNDROME; TRANSCRIPTION FACTORS;

EID: 34447118767     PISSN: 00314005     EISSN: 02105721     Source Type: Journal    
DOI: 10.1542/peds.2006-3324     Document Type: Article

References (44)

1. Amiel J, Laudier B, Attie-Bitach T, et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet. 2003;33:459-461
2. Sasaki A, Kanai M, Kijima K, et al. Molecular analysis of congenital central hypoventilation syndrome. Hum Genet. 2003;114:22-26
3. Weese-Mayer DE, Berry-Kravis EM, Zhou L, et al. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2B. Am J Med Genet A. 2003;123:267-278
4. Axelrod FB, Chelimsky GG, Weese-Mayer DE. Pediatric autonomic disorders. Pediatrics. 2006;118:309-321
5. Fishman LS, Samson JH, Sperling DR. Primary alveolar hypoventilation syndrome (Ondine's curse). Am J Dis Child. 1965;110:155-161
6. Katz ES, McGrath S, Marcus CL. Late-onset central hypoventilation with hypothalamic dysfunction: a distinct clinical syndrome. Pediatr Pulmonol. 2000;29:62-68
7. Nattie EE, Bartlett D, Rozycki AA. Central alveolar hypoventilation in a child: an evaluation using a whole body plethysmograph. Am Rev Respir Dis. 1975;112:259-266
8. Dunger DB, Leonard JV, Wolff OH, Preece MA. Effect of naloxone in a previously undescribed hypothalamic syndrome: a disorder of the endogenous opioid peptide system? Lancet. 1980;1:1277-1281
9. Frank Y, Kravath RE, Inoue K, et al. Sleep apnea and hypoventilation syndrome associated with acquired nonprogressive dysautonomia: clinical and pathological studies in a child. Ann Neurol. 1981;10:18-27
10. duRivage SK, Winter RJ, Brouillette RT, Hunt CE, Noah Z. Idiopathic hypothalamic dysfunction and impaired control of breathing. Pediatrics. 1985;75:896-898
11. Proulx F, Weber ML, Collu R, Lelievre M, Larbrisseau A, Delisle M. Hypothalamic dysfunction in a child: a distinct syndrome? Report of a case and review of the literature. Eur J Pediatr. 1993;152:526-529
12. North KN, Ouvrier RA, McLean CA, Hopkins IJ. Idiopathic hypothalamic dysfunction with dilated unresponsive pupils: report of two cases. J Child Neurol. 1994;9:320-325
13. Ouvrier R, Nunn K, Sprague T, et al. Idiopathic hypothalamic dysfunction: a paraneoplastic syndrome? Lancet. 1995;346:1298
14. Del Carmen Sanchez M, Lopez-Herce J, Carrillo A, et al. Late-onset central hypoventilation syndrome. Pediatr Pulmonol. 1996;21:189-191
15. Gothi D, Joshi JM. Late onset hypoventilation syndrome: is there a spectrum of idiopathic hypoventilation syndromes? Indian J Chest Dis Allied Sci. 2005;47:293-297
16. Matera I, Bachetti T, Puppo F, et al. PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late-onset central hypoventilation syndrome. J Med Genet. 2004;41:373-380
17. Trochet D, O'Brien LM, Gozal D, et al. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet. 2005;76:421-426
18. Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med. 2006;174:1139-1144
19. Trang H, Dehan M, Beaufils F, Zaccaria I, Amiel J, Gaultier C. The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype. Chest. 2005;127:72-79
20. Weese-Mayer DE, Shannon DC, Keens TG, Silvestri JM. American Thoracic Society statement: idiopathic congenital central hypoventilation syndrome: diagnosis and management. Am J Respir Crit Care Med. 1999;160:368-373
21. Weese-Mayer DE, Berry-Kravis EM, Zhou L. Adult identified with congenital central hypoventilation syndrome: mutation in PHOX2b gene and late-onset CHS. Am J Respir Crit Care Med. 2005;171:88
22. Antic NA, Malow BA, Lange N, et al. PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood. Am J Respir Crit Care Med. 2006;174:923-927
23. Trang H, Laudier B, Trochet D, et al. PHOX2B gene mutation in a patient with late-onset central hypoventilation. Pediatr Pulmonol. 2004;38:349-351
24. Weese-Mayer DE, Silvestri JM, Huffman AD, et al. Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome. Am J Med Genet. 2001;100:237-245
25. Kirchhoff M, Rose H, Lundsteen C. High resolution comparative genomic hybridisation in clinical cytogenetics. J Med Genet. 2001;38:740-744
26. Garcia-Barcelo M, Sham MH, Lui VC, Chen BL, Ott J, Tam PK. Association study of PHOX2B as a candidate gene for Hirschsprung's disease. Gut. 2003;52:563-567
27. Gray J, Yeo G, Hung C, et al. Functional characterization of human NTRK2 mutations identified in patients with severe early-onset obesity. Int J Obes (Lond). 2007;31:359-364
28. Kirchhoff M, Rose H, Maahr J, et al. High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes. Eur J Hum Genet. 2000;8:661-668
29. Kirchhoff M, Gerdes T, Rose H, Maahr J, Ottesen AM, Lundsteen C. Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals. Cytometry. 1998;31:163-173
30. Chen ZY, Patel PD, Sant G, et al. Variant brain-derived neurotrophic factor (BDNF) (Met66) alters the intracellular trafficking and activity-dependent secretion of wild-type BDNF in neurosecretory cells and cortical neurons. J Neurosci. 2004;24:4401-4411
31. Egan MF, Kojima M, Callicott JH, et al. The BDNF Val66Met polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function. Cell. 2003;112:257-269
32. Hariri AR, Goldberg TE, Mattay VS, et al. Brain-derived neurotrophic factor Val66Met polymorphism affects human memory-related hippocampal activity and predicts memory performance. J Neurosci. 2003;23:6690-6694
33. Neves-Pereira M, Mundo E, Muglia P, King N, Macciardi F, Kennedy JL. The brain-derived neurotrophic factor gene confers susceptibility to bipolar disorder: evidence from a family-based association study. Am J Hum Genet. 2002;71:651-655
34. Williams T, Berelowitz M, Joffe SN, et al. Impaired growth hormone responses to growth hormone-releasing factor in obesity: a pituitary defect reversed with weight reduction. N Engl J Med. 1984;311:1403-1407
35. Erickson JT, Conover JC, Borday V, et al. Mice lacking brain-derived neurotrophic factor exhibit visceral sensory neuron losses distinct from mice lacking NT4 and display a severe developmental deficit in control of breathing. J Neurosci. 1996;16:5361-5371
36. Katz DM. Regulation of respiratory neuron development by neurotrophic and transcriptional signaling mechanisms. Respir Physiol Neurobiol. 2005;149:99-109
37. Klein R, Smeyne RJ, Wurst W, et al. Targeted disruption of the trkB neurotrophin receptor gene results in nervous system lesions and neonatal death. Cell. 1993;75:113-122
38. Xu B, Goulding EH, Zang K, et al. Brain-derived neurotrophic factor regulates energy balance downstream of melanocortin-4 receptor. Nat Neurosci. 2003;6:736-742
39. Kernie SG, Liebl DJ, Parada LF. BDNF regulates eating behavior and locomotor activity in mice. EMBO J. 2000;19:1290-1300
40. Rios M, Fan G, Fekete C, et al. Conditional deletion of brain-derived neurotrophic factor in the postnatal brain leads to obesity and hyperactivity. Mol Endocrinol. 2001;15:1748-1757
41. Yeo GS, Connie Hung CC, Rochford J, et al. A de novo mutation affecting human TrkB associated with severe obesity and developmental delay. Nat Neurosci. 2004;7:1187-1189
42. Moeschler JB, Shevell M. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics. 2006;117:2304-2316
43. Knight SJ, Regan R, Nicod A, et al. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet. 1999;354:1676-1681
44. Ravnan JB, Tepperberg JH, Papenhausen P, et al. Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet. 2006;43:478-489