The pulmonology service at Talavera Hospital recently reported a unique medical case. It was about A case of RohadAn extremely rare disease with approximately 200 cases worldwide.
What makes this case literally unique is that this is the first time this pediatric syndrome has been observed in an adult.
2019 It was in 2019 when a patient was admitted to the pulmonology service of the Nuestra Señora del Prado General University Hospital in Talavera de la Reina. According to They explain from the health centerIt was a patient over 50 years of age who was admitted to the center “after an episode of severe respiratory failure with very unusual evolution and manifestations and striking hypothalamic changes, hyperphagia and somnolence.”
Rohad.The woman’s final diagnosis was rapidly progressive obesity syndrome, hypothalamic dysfunction, alveolar hypoventilation, and autonomic dysregulation. Rohad. It is a disease of unknown etiology, i.e. we do not know its causes.
In the cases described so far, the disorder begins in young children between the ages of about one and a half to seven years. The first symptom will be hyperphagiaAn “extreme and insatiable” hunger. then Changes in hypothalamic function begin to appear, as do respiratory symptoms.
It is often accompanied by behavioral and cognitive developmental disorders, and neural crest tumors appear during development. The first known case was in Spain Described in 2016.
Complex diagnosis. Being a rare disease and so far only described in the pediatric population, the diagnosis was complicated, Angel Ortega, who led the medical team studying the case, explained in a press release.
“When faced with the diagnosis, I saw that all the features coincided with the pediatric syndrome with its presentation and clinical development, but in a 57-year-old patient, a problem that had never been described before. , with the frustration of not being able to offer a confirmation. , forecast as there are no similar events,” explained Ortega.
Age is an important factor because survival rates in known cases are limited, far beyond 57 years.
Presenting the case. The party presented the case before Congress in 2022 American Thoracic Society Held in San Francisco. last year They described the case in the magazine ERJ Open Research of the European Respiratory Society.
Confirmation of the diagnosis recently came from the Pathogenesis of Autoimmune Neuronal Diseases Group of the IDIBAPS-Hospital Clinic in Barcelona, based on the study of antibodies called ZSCAN1 associated with this syndrome.
A different view of the syndrome. The work done in this field could be useful in understanding a disease that is rare and about which we know very little. Above all, it can identify new cases that might be missed precisely because of the age of the patients. Always, of course, with the aim of improving the quality of life of those who suffer from it.
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