ROHHAD Syndrome: Reasons for Diagnostic Difficulties in Obesity

Kocaay, Pınar; Şıklar, Zeynep; Çamtosun, Emine; Kendirli, Tanıl; Berberoğlu, Merih

doi:10.4274/jcrpe.1432

Cited by 30 publications

(35 citation statements)

References 14 publications

(26 reference statements)

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“…The syndrome is quite distinctive from Prader-Willi and other complex syndromes of obesity due to its sudden onset acquired nature, absence of symptoms at birth, predominance of autonomic features, and respiratory abnormalities as well as diabetes insipidus and hyperprolactinemia. The condition is characterized by high morbidity and mortality rates [3,11]. Forty per cent of patients were noted to develop neural crest tumors (ganglioneuroma, ganglioneuroblastoma); it was suggested that the acronym ROHHAD could be extended to ROHHADNET (ROHHAD-neuroendocrine tumors) [11].…”

Section: Discussionmentioning

confidence: 99%

Natural history of ROHHAD syndrome: development of severe insulin resistance and fatty liver disease over time

Eldin

Tombayoglu

Butz

et al. 2019

Clin Diabetes Endocrinol

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Absract Background Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare syndrome with unknown etiology. Metabolic abnormalities are not known to be part of the syndrome. We present one of the oldest cases reported in the literature, who developed severe metabolic abnormalities and hepatic disease suggesting that these features may be part of the syndrome. Case presentation A 27-year-old woman, diagnosed with ROHHAD syndrome at age 15, who previously developed diabetes insipidus, growth hormone deficiency, hyperprolactinemia, and hypothyroidism in her first decade of life. This was followed by insulin resistance, NAFLD, liver fibrosis, and splenomegaly before age 14 years. Her regimen included a short course of growth hormone, and cyclic estrogen and progesterone. Her metabolic deterioration continued despite treatment with metformin. Interestingly, she had a favorable response to liraglutide therapy despite having a centrally mediated cause for her obesity. At age 26, a 1.6 cm lesion was found incidentally in her liver. Liver biopsy showed hepatocellular carcinoma which was successfully treated with radiofrequency ablation. Conclusion Metabolic abnormalities, Insulin resistance and fatty liver disease are potentially part of the ROHHAD syndrome that may develop over time. GLP1 agonists were reasonably effective to treat insulin resistance and hyperphagia. Patients with ROHHAD may benefit from close follow up in regards to liver disease. Electronic supplementary material The online version of this article (10.1186/s40842-019-0082-y) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Natural history of ROHHAD syndrome: development of severe insulin resistance and fatty liver disease over time

Eldin

Tombayoglu

Butz

et al. 2019

Clin Diabetes Endocrinol

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“…Our first patient was presented with night-time hyperthermia, which is an autonomic dysregulation. Another diagnostic criterion for ROHHAD syndrome is disruption of the hypothalamus axis, which has various manifestations, including hyperprolactinemia, central hypothyroidism, growth hormone deficiency, growth hormone insensitivity to stimulation tests, delayed or precocious puberty, and ACTH deficiency (1,2,5). Our first patient experienced hypothalamic deficiency, which manifested as premature central puberty and hyperprolactinemia.…”

Section: Discussionmentioning

confidence: 87%

“…However, some cases of late-onset CCHS may be misdiagnosed with ROHHAD syndrome. Considering the negative results of PHOX-2B genetic mutations, this diagnosis was ruled out in all our three patients (1)(2)(3)(4). Another differential diagnosis of hypoventilation is Chiari malformation, which is characterized by hypoventilation associated with herniation of cerebellar vermis and caudal brainstem with disruption of blood flow.…”

Section: Discussionmentioning

confidence: 99%

Three Cases of Hypoventilation in the First Decade with an Unusual Presentation and Rare Etiology: A Case Report

et al. 2019

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Introduction: Alveolar hypoventilation is defined as insufficient ventilation. The primary feature of this disorder is insufficient sleep-related ventilation. The differential diagnosis of pediatric hypoventilation includes congenital central hypoventilation syndrome (CCHS), ROHHAD syndrome, Chiari malformation, Prader-Willi syndrome (PWS), and neuromuscular disorders (e.g. congenital myopathy, brain trauma, and central nervous system tumors). Case Presentation: In this article, we report two cases of hypoventilation in the first decade of life with abnormal presentations (e.g., arterial and venous thrombosis). We also present a case of hypoventilation with an uncommon etiology and compare the therapeutic strategies for these patients. Conclusions:The aim of this case report was to raise awareness of this unusual presentation of ROHHAD syndrome. Due to the low incidence of this syndrome, further studies are warranted to collect more information about its pathophysiology and symptoms. In addition, we noticed a rare etiology of hypoventilation (brain trauma).

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“…ROHHAD is a very rare disease with less than 100 reported cases worldwide to-date [12]. The course and timing of ROHHAD symptoms are largely variable.…”

Section: Discussionmentioning

confidence: 99%

Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumor syndrome with a homogenous enlargement of the pituitary gland: a case report

et al. 2016

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BackgroundRapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome is a rare pediatric disorder with a variable sequence of clinical presentations, undefined etiology, and high risk of mortality. Our patient presented an unusual course of the disease accompanied by a homogenous mild enlargement of her pituitary gland with an intact pituitary–endocrine axis which, to the best of our knowledge, represents a new finding in rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome.Case presentationWe present a documented case of a 4 years and 8-month-old Syrian Arabic girl with a distinctive course of signs and symptoms of rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome accompanied by mature ganglioneuroma in her chest, a homogenous mild enlargement of her pituitary gland, generalized cortical brain atrophy, and seizures. Three months after her first marked symptoms were noted she had a sudden progression of severe respiratory distress that ended with her death.ConclusionsThe findings of this case could increase our understanding of the pathogenetic mechanisms of rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation, and place more emphases on pediatricians to consider rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome whenever early rapid onset of obesity, associated with any malfunction, is observed in children. This knowledge could be lifesaving for children with rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome.

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ROHHAD Syndrome: Reasons for Diagnostic Difficulties in Obesity

Cited by 30 publications

References 14 publications

Natural history of ROHHAD syndrome: development of severe insulin resistance and fatty liver disease over time

Natural history of ROHHAD syndrome: development of severe insulin resistance and fatty liver disease over time

Three Cases of Hypoventilation in the First Decade with an Unusual Presentation and Rare Etiology: A Case Report

Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumor syndrome with a homogenous enlargement of the pituitary gland: a case report

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