Scientists in Spain discover new rare disease in adults that was previously only found in children

Researchers have uncovered the world's first case of ROHHAD syndrome in adults, a condition that includes rapid-onset obesity and usually presents in previously healthy children at the age of 2-4 years

J.M.L

Toledo

Monday, 15 July 2024, 11:35 | Updated 16:41h.

A clinical study team at the research and teaching hospital Nuestra Señora del Prado in Talavera de la Reina (Toledo province in central Spain), has discovered the world's first adult case of ROHHAD syndrome, a very rare disease that until now was only known to occur in children with just 200 cases reported worldwide.

The syndrome causes rapidly progressive extreme obesity, central hypoventilation syndrome (also known as Ondine's curse, the body's failure to detect changes in CO2 levels while asleep), hypothalamic dysfunction (hence the weight gain, among other issues coming from the hypothalamus part of the brain), alteration of the autonomic nervous system (affecting blood pressure, digestion, bladder function and more) and behavioural changes.

The case, which has been published in the scientific journals of the European Respiratory Society and the American Academy of Neurology, was detected in 2019 when a 57-year-old patient was admitted to this hospital "after an episode of severe respiratory failure with very unusual progression and symptoms such as hypothalamic alteration, hyperphagia [insatiable hunger] and striking somnolence [excessive sleepiness]", according to pulmonologist Ángel Ortega, who led this research.

Premature death

This syndrome has so far only been known to occur in children and forces sufferers to require prolonged mechanical ventilation to assist their breathing. In addition, there is no effective treatment and the mechanisms that trigger it are not known, so patients typically die very young.

This discovery of ROHHAD syndrome in an adult has been joined by another finding for this syndrome, also thanks to a research team from Spain. A new antibody has been found to be present in this syndrome by Pathogenesis of Autoimmune Neuronal Disorders, a group led by Dr Josep Dalmau at the Hospital Clinic de Barcelona. This antibody marker is shared by a high percentage of patients with ROHHAD in the cerebrospinal fluid, the case of Talavera de la Reina hospital being the only known confirmed case in an adult patient. In Dr Ortega's opinion, "the publication of this scientific study opens up the possibility for clinicians from all over the world to find compatible cases in other adults that will allow us to know the true extent of this syndrome, to redefine its diagnostic criteria and to increase the possibility of finding an effective treatment for a very disabling disease."

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