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ROHHAD Dr.Yassin Alsaleh

Rohhad syndrom

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ROHHAD AND ROHHAD NET

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Page 1: Rohhad syndrom

ROHHAD Dr.Yassin Alsaleh

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Case scenario 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

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• 9 year old girl case of ROHHADNET with :• Rapid onset of obesity, hypoventilation on

biPAP, adipsic hypernatremia, hypothyrodisim, S/P removal of ganglioneuroma.

Case scenario 2

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introduction

• 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.

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• Rapid-Onset.• Obesity.• Hypoventilation.• Hypothalamic.• Autonomic Dysregulation.

ROHH

AD

ROHHAD & ROHHADNET

• Neural tumor syndromeNET

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• 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.

introduction

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introduction

• 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.

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GENETICS• 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.

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• 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.

Clinical presentation

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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).

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• Hyperphagia• Obesity.• alveolar hypoventilation• altered respiratory control or thermal or other

hypothalamic dysregulations,• neurobehavioral disorders• tumors of neural crest origin

Clinical presentation

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Clinical presentaion ENDOCRINE• 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.

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% manifestation

100 % Rapid-onset obesity

60 % Failed growth hormone stimulation test

53% Hyperphagia

53% Polydipsia

46-100% Hypernatremia 46% Hyperprolactinemia

30% Hypothyroidism

26% Adrenal insufficiency 26% Polyuria 20% Short stature 13% Delayed puberty

13% Hyponatremia

13% Low IGF-1 and IGFBP-3 13% Precocious puberty 13% Premature adrenarche

% manifestation

13% Transient diabetes insipidus

13% Transient SIADH

6% Hypogonadotropic hypogonadism

6% Irregular menses

% manifestation

100% Alveolar hypoventilation

60% Cardiorespiratory arrest

53% Obstructive sleep apnea

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obesity• 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.

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ROHHAD VS EXOGENOUS OBESITYROHHAD EXOGENOUS OBESITY

increased increased Sleep apnea

increased increased GH unresponsiveness

High High TSH levels

decreased increased height velocity

low high IGF-I

present absent Autonomic dysfunction

present absent Alveolar hypoventilation

present absent tumors of the sympathetic nervous system

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Neural crest tumors• 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.

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RESPIRATORY• 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

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Autonomic dysregulation• The most common was thermal dysregulation,

manifest as episodes of hyperthermia or hypothermia .

• pupillary dysfunction and Strabismus.• Gastrointestinal dysmotility with constipation

and chronic diarrhea.

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Developmental and neurobehavioral disorders

• 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.

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Cardiac

• irregular heart rate,• profound bradycardia that required a cardiac

pacemaker• Cardiomyopathy.• heart failure.

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diagnostic criteria• 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).

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Other DDx• Prader-Willi syndrome.• Bardet-Biedl syndrome.• leptin receptor deficiency.• Cushing’s syndrome.• GH deficiency

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MANAGEMENT• 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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