ROHHAD
Encyclopedia
Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD syndrome) is a very rare disease affecting approximately only 75 cases worldwide. Patients with ROHHAD, as well as patients with Congenital Central Hypoventilation Syndrome (CCHS) have damaged the mechanism governing proper breathing
. ROHHAD syndrome is a disease that is potentially lethal and incurable. Fifteen patients with ROHHAD were evaluated by Diego Ize-Ludlow et al. work published in 2007.
) was confirmed in 2009 as the disease-causing gene in patients with congenital central hypoventilation syndrome (CCHS), a condition present in newborns. This genetic mutation is not present though in those with late-onset central hypoventilation syndrome and hypothalamic dysfunction.
Clinically overlapping cases exist because CCHS phenotype can also include autonomic nervous system dysregulation, or tumors of neural crest origin.
Breathing
Breathing is the process that moves air in and out of the lungs. Aerobic organisms require oxygen to release energy via respiration, in the form of the metabolism of energy-rich molecules such as glucose. Breathing is only one process that delivers oxygen to where it is needed in the body and...
. ROHHAD syndrome is a disease that is potentially lethal and incurable. Fifteen patients with ROHHAD were evaluated by Diego Ize-Ludlow et al. work published in 2007.
Pathogenesis
Central hypoventilation syndrome is a heterogeneous group of seemingly overlapping diseases. Paired-like homeobox 2B (PHOX2BPHOX2B
Paired-like homeobox 2b , also known as neuroblastoma Phox , is a protein that in humans is encoded by the PHOX2B gene located on chromosome 4....
) was confirmed in 2009 as the disease-causing gene in patients with congenital central hypoventilation syndrome (CCHS), a condition present in newborns. This genetic mutation is not present though in those with late-onset central hypoventilation syndrome and hypothalamic dysfunction.
Symptoms
The variable presentation of ROHHAD includes the following main symptoms:- Hyperphagia and obesity by age of 10years - (median age 3 years)
- Respiratory Manifestations
- Alveolar HypoventilationHypoventilationIn medicine, hypoventilation occurs when ventilation is inadequate to perform needed gas exchange...
(median onset age 6.2 years) - Cardiorespiratory arrest
- Reduced Carbon Dioxide Ventilatory Response
- Obstructive sleep apneaObstructive sleep apneaObstructive sleep apnea or obstructive sleep apnea syndrome is the most common type of sleep apnea and is caused by obstruction of the upper airway. It is characterized by repetitive pauses in breathing during sleep, despite the effort to breathe, and is usually associated with a reduction in...
- Alveolar Hypoventilation
- Thermal or other hypothalamic dysregulations, with autonomic dysregulation by median age 3.6 years
- Failed Growth HormoneGrowth hormoneGrowth hormone is a peptide hormone that stimulates growth, cell reproduction and regeneration in humans and other animals. Growth hormone is a 191-amino acid, single-chain polypeptide that is synthesized, stored, and secreted by the somatotroph cells within the lateral wings of the anterior...
Stimulation - Adipsic hypernatremia (inability to feel thirst to keep normal hydration)
- HypernatremiaHypernatremiaHypernatremia or hypernatraemia is an electrolyte disturbance that is defined by an elevated sodium level in the blood. Hypernatremia is generally not caused by an excess of sodium, but rather by a relative deficit of free water in the body...
- Hyperprolactinemia
- Hyperphagia
- Diabetes insipidusDiabetes insipidusDiabetes insipidus is a condition characterized by excessive thirst and excretion of large amounts of severely diluted urine, with reduction of fluid intake having no effect on the concentration of the urine. There are several different types of DI, each with a different cause...
- Ophthalmologic Manifestations
- Thermal Dysregulation
- Gastrointestinal dysmotility
- Altered Perception of Pain
- Altered Sweating
- Cold Hands and Feet
- Failed Growth Hormone
- Neurobehavioral disorders,
- Tumors of neural crestNeural crestNeural crest cells are a transient, multipotent, migratory cell population unique to vertebrates that gives rise to a diverse cell lineage including melanocytes, craniofacial cartilage and bone, smooth muscle, peripheral and enteric neurons and glia....
origin
Clinically overlapping cases exist because CCHS phenotype can also include autonomic nervous system dysregulation, or tumors of neural crest origin.
Prognosis and treatment
Currently there are no official tests or treatments for ROHHAD. Each child has the symptoms above at different ages, yet most symptoms are eventually present. Many children are misdiagnosed or are never diagnosed until alveolar hypoventilation occurs.See also
- LO-CHS/HD or LOCHS/HD
- Congenital Central Hypoventilation Syndrome (or CCHS)
- Prader-Willi syndromePrader-Willi syndromePrader–Willi syndrome is a rare genetic disorder in which seven genes on chromosome 15 are deleted or unexpressed on the paternal chromosome...