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Rohhad syndrom

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ROHHAD AND ROHHAD NET

Published in: Health & Medicine
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Rohhad syndrom

  1. 1. • 2 years old boy case of : • Microcephaly, mental retardation, SZ disorder, resolved hypernatremia, sleep apnea ,morbid obesity refered to endocrinlogy as possible case of ROHHAD syndrome. • Wt:>97th BMI:>97th Ht:10-25th • On oxygen, No goitre , no purple straie. • ACTH , cortisol: WNL. TSH:8.5 Ft4:13
  2. 2. • 9 year old girl case of ROHHADNET with : • Rapid onset of obesity, hypoventilation on biPAP, adipsic hypernatremia, hypothyrodisim, S/P removal of ganglioneuroma.
  3. 3. • In 1965, Dr. Fishman was the first to describe a constellation of symptoms which he termed Late Onset Central Hypoventilation Syndrome with Hypothalamic Dysfunction (LO-CHS/ HD). • In 2007, Dr. Diego Ize-Ludlow renamed the disease using the acronym ROHHAD.
  4. 4. • Rapid-Onset. • Obesity. • Hypoventilation. • Hypothalamic. • Autonomic Dysregulation. • Neural tumor syndrome
  5. 5. • ROHHAD syndrome is a heterogeneous medical condition . • Despite increased recognition of the disorder, its incidence is rare with fewer than 100 reported cases in the literature. • The etiology of this syndrome is still unknown.
  6. 6. • life-threatening medical condition with death occurring around the average chronological age of 10. • ROHHAD syndrome shares many clinical similarities with congenital central alveolar hypoventilation syndrome or Ondine’s curse.
  7. 7. • no specific genetic marker has been implicated . • Nevertheless, familial cases have been reported, suggesting that it may be a monogenic condition. • The PHOX2B mutations implicated in CCHS are absent in children with ROHHAD.
  8. 8. • The most common presenting symptom of ROHHAD syndrome is hyperphagia and obesity secondary to hypothalamic dysfunction. • The typical age of onset is between 2 and 4 years.
  9. 9. sudden rapid weight gain and concomitant growth failure (median age at onset: 3 years) Hypothalmic and autonomic dysregulation (median age at onset: 3.6 years) behavior and alveolar hypoventilation (median age at onset: 6.2 years).
  10. 10. • Hyperphagia • Obesity. • alveolar hypoventilation • altered respiratory control or thermal or other hypothalamic dysregulations, • neurobehavioral disorders • tumors of neural crest origin
  11. 11. • Growth failure GH deficiency or unresponsiveness. • excessive secretion of ACTH, hypercortisolism • glucocorticoid deficiency. • hypogonadotropic hypogonadism. • Hyperprolactinemia. • Hypernatremia. Adipsic or Diabetes insipidus. • hypogonadism • precocious puberty, • central hypothyroidism and Hyperthyrotropinemia.
  12. 12. manifestation % Rapid-onset obesity 100 % Failed growth hormone 60 % stimulation test Hyperphagia 53% Polydipsia 53% Hypernatremia 46-100% Hyperprolactinemia 46% Hypothyroidism 30% Adrenal insufficiency 26% Polyuria 26% Short stature 20% Delayed puberty 13% Hyponatremia 13% Low IGF-1 and IGFBP-3 13% Precocious puberty 13% Premature adrenarche 13% manifestation % Transient diabetes 13% insipidus Transient SIADH 13% Hypogonadotropic 6% hypogonadism Irregular menses 6% manifestation % Alveolar hypoventilation 100% Cardiorespiratory arrest 60% Obstructive sleep apnea 53%
  13. 13. • rapid-onset obesity is initial manifestation of ROHHAD (20–40 lb over 6 –12months). • Almost simultaneously, height velocity will decrease. • This lead to increase in BMI. • By 6 yr of age, all children had massive obesity. • marked adipomastia ,chubby face and slight buffalo neck.
  14. 14. EXOGENOUS OBESITY ROHHAD Sleep apnea increased increased GH unresponsiveness increased increased TSH levels High High height velocity increased decreased IGF-I high low Autonomic dysfunction absent present Alveolar hypoventilation absent present tumors of the sympathetic absent present nervous system
  15. 15. • Approximately 40% of the patients may develop neural crest tumors (ganglioneuro-blastomas, ganglioneuromas, • usually orginated in the posterior mediastinum or adrenal gland. • Neural crest tumors are composed of ganglion cells (some of which may be immature) and mature Schwann cells (mature stroma) • Calcification in CT is common.
  16. 16. • Respiratory signs and symptoms may include obstructive sleep apnea and central hypoventilation, • which may result in hypoxemia, hypercarbia, cyanosis, or even cardiorespiratory arrest with sudden death. • median onset age 6 years • ventilatory support is a mainstay of care
  17. 17. • The most common was thermal dysregulation, manifest as episodes of hyperthermia or hypothermia . • pupillary dysfunction and Strabismus. • Gastrointestinal dysmotility with constipation and chronic diarrhea.
  18. 18. • mild mental retardation. • developmental regression • obsessive-compulsive disorder. • personality changes, irritability, and physical aggression. • severe avoidance behaviors. • Anxiety . • sleep symptoms. insomnia, and nighttime. • psychosis. • seizures.
  19. 19. • irregular heart rate, • profound bradycardia that required a cardiac pacemaker • Cardiomyopathy. • heart failure.
  20. 20. • 1. rapid onset obesity after a 2 year period of normal development both in terms of height and weight. • 2. hypothalamic-pituitary endocrine dysfunctions (hypercortisolism, slow growth, low IGFI, hyperprolactinemia, severe hypernatremia without diabetes insipidus); • 3. hypothalamic autonomic dysregulation (thermal dysregulation, cold hands and feet, excessive sweating, etc). • 4. alveolar hypoventilation (obstructive sleep apnea and 2 episodes of respiratory arrest post minimal sedation).
  21. 21. Other DDx • Prader-Willi syndrome. • Bardet-Biedl syndrome. • leptin receptor deficiency. • Cushing’s syndrome. • GH deficiency
  22. 22. • Currently there are no definitive tests or treatments for ROHHAD. • serial pulmonary studies at 3- to 6-month intervals. • screening for tumors of neural crest origin every 12 to 18 months. • multi-disciplinary approach is needed in any potential case of ROHHADNET syndrome.

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