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Wendy G Mitchell, Franz Blaes
Cancer and autoimmunity come together in paraneoplastic syndromes (PNS), which reflect the remote, not direct, effects of cancer. In the pediatric population, a variety of PNS have been described, but the most common of these rare disorders are instigated by neuroblastic tumors, such as neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. The main pediatric-onset neurological PNS are ROHHAD syndrome, anti-ANNA1 (anti-Hu), and opsoclonus-myoclonus syndrome. They manifest distinctive neurological features, which aid the diagnosis, though under-recognition still poses serious challenges and risks...
August 2017: Seminars in Pediatric Neurology
Adel S Al-Harbi, Abdullah Al-Shamrani, Baha A Al-Shawwa
Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare disease, but could be fatal if not diagnosed early. It mimics many other diseases and it may take few years after the onset of rapid obesity to have the other clinical features. Therefore, any patient with rapid-onset obesity after the age of 2 years should have high index of suspicion and long term follow up. We report a case of ROHHAD in Saudi Arabia and we highlight the clinical features and the importance of early diagnosis and management...
November 2016: Saudi Medical Journal
Diana Reppucci, Jill Hamilton, E Ann Yeh, Sherri Katz, Suhail Al-Saleh, Indra Narang
BACKGROUND: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) is a rare disease with a high mortality rate. Although nocturnal hypoventilation (NH) is central to ROHHAD, the evolution of sleep disordered breathing (SDB) is not well studied. The aim of the study was to assess early manifestations of SDB and their evolution in ROHHAD syndrome. METHODS: Retrospective study of children with ROHHAD at two Canadian centers...
July 30, 2016: Orphanet Journal of Rare Diseases
S Ibáñez-Micó, A M Marcos Oltra, S de Murcia Lemauviel, R Ruiz Pruneda, C Martínez Ferrández, R Domingo Jiménez
INTRODUCTION: ROHHAD syndrome (rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation) is a rare and complex disease, presenting in previously healthy children at the age of 2-4 years. Up to 40% of cases are associated with neural crest tumours. DEVELOPMENT: We present the case of a 2-year-old girl with symptoms of rapidly progressing obesity, who a few months later developed hypothalamic dysfunction with severe electrolyte imbalance, behaviour disorder, hypoventilation, and severe autonomic dysregulation, among other symptoms...
November 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
Lisa A Jacobson, Shruti Rane, Lisa J McReynolds, Diana A Steppan, Allen R Chen, Ido Paz-Priel
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare, generally progressive, and potentially fatal syndrome of unclear etiology. The syndrome is characterized by normal development followed by a sudden, rapid hyperphagic weight gain beginning during the preschool period, hypothalamic dysfunction, and central hypoventilation, and is often accompanied by personality changes and developmental regression, leading to substantial morbidity and mortality...
July 2016: Pediatrics
Mukesh Sanklecha, Suba Sundaresan, Vrajesh Udani
BACKGROUND: ROHHAD syndrome is an exceedingly rare cause of central hypoventilation. CASE CHARACTERISTICS: A 7-year-old girl with ROHHAD syndrome who had central hypoventilation, rapid weight gain, multiple cardiac arrests and hyperprolactinemia. OUTCOME: She required prolonged and repeated ventilation, and finally died due to complications of ventilation. MESSAGE: ROHHAD Syndrome should be suspected in any child who presents with obesity, behavioral changes or autonomic instability following a neural crest tumor...
April 2016: Indian Pediatrics
Karolina Kot, Elżbieta Moszczyńska, Agnieszka Lecka-Ambroziak, Marek Migdał, Mieczysław Szalecki
ROHHAD syndrome (Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation) is characterized by rapid-onset obesity in young children, hypoventilation, and hypothalamic and autonomic dysfunction. The exact aetiology of the disease remains unknown, and the number of reported cases seems to be underestimated. We present the case of a nine-year-old male patient suspected of ROHHAD due to weight gain since early childhood, decreased height velocity, hypoventilation, hypodipsia, excessive perspiration, and pyrexial episodes...
2016: Endokrynologia Polska
Sarah F Barclay, Casey M Rand, Paul A Gray, William T Gibson, Richard J A Wilson, Elizabeth M Berry-Kravis, Diego Ize-Ludlow, N Torben Bech-Hansen, Debra E Weese-Mayer
BACKGROUND AND OBJECTIVES: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare pediatric disease of unknown cause. Here, in response to a recent case report describing a ROHHAD patient who suffered from secondary narcolepsy confirmed by an absence of hypocretin-1 in the cerebrospinal fluid, we consider whether the ROHHAD phenotype is owing to one or more mutations in genes specific to hypocretin protein signalling. METHODS: DNA samples from 16 ROHHAD patients were analyzed using a combination of next-generation and Sanger sequencing to identify exonic sequence variations in three genes: HCRT, HCRTR1, and HCRTR2...
January 15, 2016: Respiratory Physiology & Neurobiology
Ayse Pinar Cemeroglu, Donna S Eng, Laura A Most, Carrissa M Stalsonburg, Lora Kleis
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome is a rare and potentially lethal disorder. The etiology is unclear but paraneoplastic syndrome and autoimmunity secondary to neural crest tumors have been considered, even in patients without any detectable tumor due to their tendency for spontaneous remission. We are presenting a 13-year-old girl with ROHHAD syndrome and celiac disease, which may suggest further evidence for immune-mediated etiology in the pathogenesis of ROHHAD syndrome...
January 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Sarah F Barclay, Casey M Rand, Lauren A Borch, Lisa Nguyen, Paul A Gray, William T Gibson, Richard J A Wilson, Paul M K Gordon, Zaw Aung, Elizabeth M Berry-Kravis, Diego Ize-Ludlow, Debra E Weese-Mayer, N Torben Bech-Hansen
BACKGROUND: Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) is thought to be a genetic disease caused by de novo mutations, though causative mutations have yet to be identified. We searched for de novo coding mutations among a carefully-diagnosed and clinically homogeneous cohort of 35 ROHHAD patients. METHODS: We sequenced the exomes of seven ROHHAD trios, plus tumours from four of these patients and the unaffected monozygotic (MZ) twin of one (discovery cohort), to identify constitutional and somatic de novo sequence variants...
August 25, 2015: Orphanet Journal of Rare Diseases
Vidhu V Thaker, Kristyn M Esteves, Meghan C Towne, Catherine A Brownstein, Philip M James, Laura Crowley, Joel N Hirschhorn, Sarah H Elsea, Alan H Beggs, Jonathan Picker, Pankaj B Agrawal
CONTEXT: The current obesity epidemic is attributed to complex interactions between genetic and environmental factors. However, a limited number of cases, especially those with early-onset severe obesity, are linked to single gene defects. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) is one of the syndromes that presents with abrupt-onset extreme weight gain with an unknown genetic basis. OBJECTIVE: To identify the underlying genetic etiology in a child with morbid early-onset obesity, hypoventilation, and autonomic and behavioral disturbances who was clinically diagnosed with ROHHAD syndrome...
May 2015: Journal of Clinical Endocrinology and Metabolism
Michael S Carroll, Pallavi P Patwari, Anna S Kenny, Cindy D Brogadir, Tracey M Stewart, Debra E Weese-Mayer
Hypoventilation is a defining feature of Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD), a rare respiratory and autonomic disorder. This chronic hypoventilation has been explained as the result of dysfunctional chemosensory control circuits, possibly affecting peripheral afferent input, central integration, or efferent motor control. However, chemosensory function has never been quantified in a cohort of ROHHAD patients. Therefore, the purpose of this study was to assess the response to awake ventilatory challenge testing in children and adolescents with ROHHAD...
December 2015: Pediatric Pulmonology
Cristelle Chow, Marielle Valerie Fortier, Lena Das, Anuradha P Menon, Rashida Vasanwala, Joyce C M Lam, Zhi Min Ng, Simon Robert Ling, Derrick W S Chan, Chew Thye Choong, Wendy K M Liew, Terrence Thomas
BACKGROUND: Anatomical localization of the rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome has proved elusive. Most patients had neuroimaging after cardiorespiratory collapse, revealing a range of ischemic lesions. PATIENT DESCRIPTION: A 15-year-old obese boy with an acute febrile encephalopathy had hypoventilation, autonomic dysfunction, visual hallucinations, hyperekplexia, and disordered body temperature, and saltwater regulation...
May 2015: Pediatric Neurology
Leslie A Benson, Heather Olson, Mark P Gorman
Autoimmunity is being increasingly recognized as a cause of neurologic presentations both inside and outside the intensive care unit (ICU) setting. Pediatric autoimmune neurologic diseases likely to be seen in the ICU include autoimmune encephalitidies such as N-Methyl-D-aspartate (NMDA) receptor encephalitis, central nervous system vasculitis, demyelinating disorders, and neurologic involvement of systemic autoimmune disorders. In addition, there are conditions of suspected autoimmune etiology such as febrile infection-related epilepsy syndrome (FIRES) and rapid-onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) syndrome that are rare, but when they do present, it is often to the ICU...
December 2014: Seminars in Pediatric Neurology
Pınar Kocaay, Zeynep Şıklar, Emine Çamtosun, Tanıl Kendirli, Merih Berberoğlu
A very rare syndrome of rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) has been recently described as causing morbidity due to hypothalamic dysfunction and respiratory arrest. Its prognosis is poor and often cardiac arrest occurs due to alveolar hypoventilation. This disorder can mimic genetic obesity syndromes and several endocrine disorders. We present a 13-year-old female patient who was reported to be healthy until the age of 3 years. She was admitted to our emergency department, presenting with respiratory distress...
December 2014: Journal of Clinical Research in Pediatric Endocrinology
Pallavi P Patwari, Lisa F Wolfe
PURPOSE OF REVIEW: The focus of this review is to compare and contrast two orphan disorders of late-onset hypoventilation. Specifically, rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) and congenital central hypoventilation syndrome (CCHS) are distinct in presentation, pathophysiology, and etiology. RECENT FINDINGS: While limited new information is available, appreciation and understanding of rare disorders can be attained through case reports...
August 2014: Current Opinion in Pediatrics
V Ramistella, M Wasniewska, M Valenzise, D Corica, S Cantucci, E Pitrolo, M Romeo, F De Luca
UNLABELLED: Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) is a rare and complex pediatric disorder. Children typically show ROHHAD after the first years of life with rapid weight gain and subsequently autonomic nervous system dysregulation (altered pain perception, pupillary dysfunction, hypothermia and bradycardia); alveolar hypoventilation with risk of cardiorespiratory arrest and hypothalamic dysfunction (central diabetes insipidus, hypothyroidism, growth hormone and corticotrophin deficiency)...
July 2013: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
Debra E Weese-Mayer, Casey M Rand, Diego Ize-Ludlow
No abstract text is available yet for this article.
August 2013: Journal of the Canadian Academy of Child and Adolescent Psychiatry
Eugene Grudnikoff, Carmel Foley, Claudette Poole, Eva Theodosiadis
OBJECTIVE: Behavioral and psychiatric disorders are common in youth with rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD). We outline a rational approach to psychiatric treatment of a patient with a complex medical condition. METHODS: We report the course of symptoms in a teen with ROHHAD, the inpatient treatment, and review current evidence for use of psychopharmacologic agents in youth with sleep and anxiety disturbances...
August 2013: Journal of the Canadian Academy of Child and Adolescent Psychiatry
Karlien Dhondt, Patrick Verloo, Hélène Verhelst, Rudy Van Coster, Sebastiaan Overeem
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare and complex pediatric syndrome, essentially caused by dysfunction of 3 vital systems regulating endocrine, respiratory, and autonomic nervous system functioning. The clinical spectrum of ROHHAD is broad, but sleep/wake disorders have received relatively little attention so far, although the central hypothalamic dysfunction would make the occurrence of sleep symptoms likely. In this case report, we expand the phenotype of ROHHAD with a number of striking sleep symptoms that together can be classified as a secondary form of narcolepsy...
September 2013: Pediatrics
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