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Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD) Syndrome Presented by Hari Krishnan Nair
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Rapid-onset Obesity with
Hypothalamic Dysfunction,
Hypoventilation and Autonomic
Dysregulation (ROHHAD)
Syndrome
Hari Krishnan Nair,
Visiting Medical Student,
Department of Neurology,
Boston Children’s Hospital.
A disorder of autonomic nervous system
regulation with endocrine abnormalities.
Epidemiology and Etiopathogenesis
Epidemiology
A rare condition
Approximately 100 cases reported in the
literature and clinically to date
Predominantly in patients of Caucasian
and Arabic descent
◦ One case each of Japanese, Indian and
Malaysian origin
Etiology and Pathogenesis
No specific cause has been found to date
PHOX2B mutations, which causes a
related disorder Congenital Central
Hypoventilation Syndrome, are absent in
ROHHAD
Clinical Presentation
Clinical Presentation
Children are apparently healthy until 1.5
years of age
Subsequently rapid-onset weight gain
(often 30 pounds in 6-12 months)
◦ Invariably the first symptom to appear
Hyperphagia
Hypersomnolence
Respiratory manifestations
(Median age: 6.2 years)
Alveolar hypoventilation
◦ Very shallow breathing during sleep
Cardiorespiratory arrest
Obstructive sleep apnea
Autonomic dysregulation
(Median age: 3.6 years)
Altered pupillary response to light
Strabismus
Altered GI motility
◦ Chronic constipation or diarrhea
Thermal dysregulation
◦ Hyperthermia or hypothermia
Altered pain perception
Autonomic dysregulation
Bradycardia
Altered sweating
Adipsic Hypernatremia
Hyperprolactinemia
Diabetes insipidus
Cardiac abnormalities
Arrhythmias
Blood pressure dysregulation
Right ventricular hypertrophy secondary
to cor pulmonale
Anatomic malformations of ANS
33-39%
Tumors of neural crest origin
◦ Ganglioneuromas
◦ Ganglioneuroblastomas
As late as 7-16 years
after the onset
of obesity
Neurobehavioral disorders
Behavioral, mood, and developmental
disorders
Seizures – may be related to episodes of
hypoxemia due to inadequate ventilator
support
Ataxia
Diagnostic Modalities
Clinical Testing
Overnight polysomnography
◦ For signs of obstructive sleep apnea and
central hypoventilation
Imaging of chest and abdomen
◦ To screen for evidence of neural crest tumors
Cardiac evaluation
Endocrine evaluation
◦ Water balance regulation
◦ Pituitary function
Sequential comprehensive
evaluation
Annual physiologic assessment during
spontaneous breathing awake and during
sleep
72-hour Holter recording annually to
evaluate for bradycardia
Echocardiogram annually
Neurocognitive testing annually
Management
Treatment
No specific treatment
Based on the clinical features and their
relative severity
Multidisciplinary care at a tertiary center
Obesity
Emphasis to avoid further weight gain
◦ In consultation with a nutritionist and
endocrinologist
◦ Recommend only modest exertion, with end
tidal carbon dioxide and pulse oximetry
(as patients do not increase their breathing
adequately during physical exertion)
Hypothalamic dysfunction
Hormone replacement
◦ Growth hormone administration, and
dopamine agonists to normalize prolactin
levels have not been shown to modify the
clinical course
Strict fluid intake regimen
Breathing deficit
Artificial ventilation
◦ Intially – during sleep only
◦ Later – continuous support
Most children – Mask ventilation and
BiPAP at night
Some – 24-hour mechanical ventilation
with tracheostomy
Autonomic dysregulation
Permanent pacemakers for bradycardia
Careful regulation of ambient
temperature
Neural crest tumors – surgical removal
◦ Has not interrupted the unfolding of the
ROHHAD phenotype nor induced recovery
from the ROHHAD phenotype
ROHHAD FIGHT Inc.
www.rohhadfight.org
Thank you