Narcolepsy secondary to a rare fatal disease
*Correspondencia: Dr. Antonio Pedrera Mazarro. Servicio de Neurofisiología Clínica. Planta -1 derecha. Hospital Universitario Ramón y Cajal. Carretera de Colmenar Viejo, km 9,100. E-28034 Madrid.
E-mail: antoniojesus.pedrera@salud.madrid.org
Introduction: ROHHAD (rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation) is a rare disease, with only about two hundred cases reported to date, that starts in previously healthy children. The first sign is usually obesity, followed by hypothalamic dysfunction and sleep-disordered breathing, which rapidly progresses until the death of the patient. ROHHAD with narcolepsy is even rarer, with only two cases described so far.
Case report: We report the case of a boy who showed signs of obesity and sleepiness since he was 5 years old. At the age of 7, he suffered two tonic-clonic seizures and, over the next four years, displayed signs and symptoms of significant hypothalamic dysfunction; after multiple tests, he was then diagnosed with ROHHAD. Despite receiving a large number of treatments, the patient died at the age of 11.
Conclusion: The pathophysiology of this disease needs to be clarified in order to investigate effective treatments in the future.
Caso clínico Niño que, desde los 5 años, presenta señales de obesidad y somnolencia. A los 7 años sufre dos crisis tonicoclónicas y, durante los cuatro años siguientes, muestra síntomas y signos propios de una disfunción hipotalámica importante, por lo que, tras múltiples pruebas, se le diagnosticó ROHHAD. A pesar de los múltiples tratamientos recibidos, el paciente falleció a los 11 años de edad.
Conclusión Es necesario aclarar la fisiopatología de esta enfermedad para poder investigar futuros tratamientos que resulten eficaces.
