ROHHAD (Rapid-onset Obesity with Hypoventilation, Hypothalamic Dysfunction, Autonomic Dysregulation) Syndrome-What Every Pediatrician Should Know About the Etiopathogenesis, Diagnosis and Treatment: A Review.
TLDR
In this article, the authors provide a comprehensive description of the etiopathogenetic theories of the disease, clinical presentation, diagnostic workup and treatment possibilities for ROHHAD, which is characterized by precipitous obesity in young children, hypoventilation and autonomic dysregulation with various endocrine abnormalities.Abstract:
Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation (ROHHAD) syndrome is a rare disease with unknown and debated etiology, characterized by precipitous obesity in young children, hypoventilation and autonomic dysregulation with various endocrine abnormalities. Neuroendocrine tumors can be associated in more than half of the cases. This rare condition has a severe outcome because of high morbidity and mortality. We provide a comprehensive description of the etiopathogenetic theories of the disease, clinical presentation, diagnostic workup and treatment possibilities.read more
Citations
More filters
Journal ArticleDOI
Hypothalamic syndrome
TL;DR: The pathogenesis of hypothalamic syndrome is highlighted, the epidemiology, diagnosis and management of this disorder is summarized, and the Primer article on this topic by Müller an colleagues is published.
Journal ArticleDOI
The Genetics of Sleep Disorders in Children: A Narrative Review
Greta Mainieri,Angelica Montini,Antonio Gennaro Nicotera,Gabriella Di Rosa,Federica Provini,Giuseppe Loddo +5 more
TL;DR: A narrative review explores the current genetic knowledge in sleep disorders in children, following the International Classification of Sleep Disorders-Third Edition (ICSD-3) categorisation as mentioned in this paper, following the ICD-3 classification.
Journal ArticleDOI
Identification of clinical factors related to antibody‐mediated immune response to the subfornical organ
Akari Nakamura-Utsunomiya,Satoshi Goda,Seiichi Hayakawa,Sakata Sonoko,Ewout J. Hoorn,Anne Blanchard,Akiko Saito-Hakoda,Haruna Kakimoto,Rumi Hachiya,Miki Kamimura,Rie Kawakita,Shinji Higuchi,Rika Fujimaru,Yoko Shirai,Daichi Miyaoka,Yuji Nagata,Yuta Kishi,Aya Wada,Akari Mitsuboshi,Kayo Ozaki,N. Komatsu,Hidetaka Niizuma,Junko Kanno,Ikuma Fujiwara,Yukihiro Hasegawa,Tohru Yorifuji,Wendy J. Brickman,Marie-Christine Vantyghem,Kei Yamaguchi,Naoki Goshima,Takeshi Y. Hiyama +30 more
TL;DR: The clinical features of newly identified patients with adipsic hypernatremia whose sera displayed immunoreactivity to the mouse subfornical organ are clarified.
Journal ArticleDOI
Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core
Giulia Amico,Wayne O. Hemphill,Mariasavina Severino,Claudio Moratti,Rosario Pascarella,Marta Bertamino,Flavia Napoli,Stefano Volpi,Francesca Rosamilia,Sara Signa,Fred W. Perrino,Marialuisa Zedde,Isabella Ceccherini,On Behalf Of The Gaslini Stroke Study Group +13 more
TL;DR: Functional analysis allowed us to interpret the impact of TREX1 variants on patients’ phenotypes and identify any causal link to Aicardi–Goutières Syndrome type 1 and CADASIL-like patients.
Journal ArticleDOI
Autoimmunity Related to Adipsic Hypernatremia and ROHHAD Syndrome
TL;DR: Since clinical diagnoses of autoimmunological adipsic hypernatremia and ROHHAD syndrome might overlap, the essential etiology is understood and precise assessments are carried out to accurately diagnose patients and provide effective treatment.
References
More filters
Journal ArticleDOI
A de novo mutation affecting human TrkB associated with severe obesity and developmental delay
Giles S.H. Yeo,Chiao-Chien Connie Hung,Justin J. Rochford,Julia M. Keogh,Juliette Gray,Shoba Sivaramakrishnan,Stephen O'Rahilly,I. Sadaf Farooqi +7 more
TL;DR: Mutation of NTRK2, which encodes TrkB, seems to result in a unique human syndrome of hyperphagic obesity and the associated impairment in memory, learning and nociception seen in the proband reflects the crucial role of TrkB in the human nervous system.
Journal ArticleDOI
Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b
Debra E. Weese-Mayer,Elizabeth Berry-Kravis,Lili Zhou,Brion S. Maher,Jean M. Silvestri,Mark E. Curran,Mary L. Marazita +6 more
TL;DR: Genes pertinent to early embryologic development of the ANS including mammalian achaete‐scute homolog‐1 (MASH1), bone morphogenic protein‐2 (BMP2), engrailed‐1(EN1), TLX3, endothelin converting enzyme‐ 1 (ECE1), endothelins‐1 ('EDN1), PHOX2a, andPHOX2b are studied in 67 probands with CCHS, and gender‐
Journal ArticleDOI
Molecular analysis of congenital central hypoventilation syndrome.
Ayako Sasaki,Masayo Kanai,Kazuki Kijima,Kazuhiro Akaba,Motoya Hashimoto,Hisaya Hasegawa,Shinsuke Otaki,Takenobu Koizumi,Satoshi Kusuda,Youhei Ogawa,Keiji Tuchiya,Wakako Yamamoto,Tomohiko Nakamura,Kiyoshi Hayasaka +13 more
TL;DR: The prominent role of mutations in the PHOX2B gene in the pathogenesis of CCHS is confirmed and the analysis of more cases and further candidates concerned with the development of the autonomic nervous system is required.
Journal ArticleDOI
Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Presenting in Childhood
Diego Ize-Ludlow,Juliette Gray,Mark A. Sperling,Elizabeth Berry-Kravis,Jeff M. Milunsky,I. Sadaf Farooqi,Casey M. Rand,Debra E. Weese-Mayer +7 more
TL;DR: Positive PHOX2B sequencing results demonstrate that this entity is distinct from congenital central hypoventilation syndrome, and provides a comprehensive description of the clinical spectrum of rapid-onset obesity with hypothalamic dysfunction, hypventilation, and autonomic dysregulation.
Journal ArticleDOI
A Candidate Gene Study of Obstructive Sleep Apnea in European Americans and African Americans
Emma K. Larkin,Sanjay R. Patel,Robert J. Goodloe,Yali Li,Xiaofeng Zhu,Courtney Gray-McGuire,Mark Raymond Adams,Susan Redline +7 more
TL;DR: This candidate gene analysis identified the potential role of genes operating through intermediate disease pathways to influence sleep apnea phenotypes, providing a framework for focusing future replication studies.