ABSTRACT
Central hypoventilation, also known as Ondine's curse, results from an impairment of the autonomic respiratory drive. It is characterized by an attenuated or absent respiratory response to hypoxemia and hypercapnia with preservation of volitional respiratory function. RJ was a 75-year-old woman with a diagnosis of probably PSP who developed central hypoventilation approximately four years after her initial onset of symptoms. Brain MRI showed no evidence of medullary lesions, one of the more common causes of adult onset central hypoventilation. The respiratory centers in the medulla, especially the ventral respiratory group (VRG) containing Botzinger and pre-Botzinger complex of neurons, appear critical for normal respiratory rhythm generation. RJ was maintained on a portable ventilator after her diagnosis of Central Hypoventilation. Ten month after being placed on ventilation she passed of unclear cause. RJ showed pathological features consistent with a diagnosis of PSP, specifically loss of neurons, secondary demyelination, and tau-positive inclusions in both astrocytes and neurons, chiefly in the globus pallidus, midbrain, and brainstem. RJ showed significant tauopathy in the region of the VRG in particular. We also examined this region in sixteen other cases of PSP and found similar tauopathy in all but one case, which had significantly less involvement of this area. We had limited clinical data on these cases but one had two episodes of unexplained hypoxia shortly before being placed on hospice. Central hypoventilation associated with tauopathy involving the VRG may be more common than often appreciated.
ABSTRACT
Objetivo: relatar o caso de uma criança recém-nascida (RN) com comprometimento do sistema nervoso autônomo caracterizado por insensibilidade em detectar aumento de CO2 e diminuição de O2, denominado de Maldição de Ondina ou Síndrome da Hipoventilação Central Congênita ou Hipoventilação Alveolar Primária, com ênfase ao acompanhamento fonoaudiológico. Discussão: o diagnóstico de Maldição de Ondina deve ser aventado quando da presença de episódios de apneias em RN, sem que se consiga elucidar a causa e que seja afastada a possibilidade de crise epiléptica, distúrbio pulmonar e/ou cardíaco, lesão de tronco ou de outra região encefálica. A evolução respiratória desta criança foi de dependência do respirador por 24 horas até o final do terceiro mês de vida. Progressivamente, foi possível deixá-la com cateter nasal com fluxo contínuo de oxigênio enquanto se mantinha acordada, e respirador em modo controlado nos períodos de sono. O tratamento específico, com instalação de marca-passo diafragmático, é a única terapia existente até o momento.
Purpose: To report the case of a newborn (NB) with an autonomic nervous system disorder characterized by insensitivity to detect increased CO2 and decreased O2, referred to as Ondine's curse, Primary Hypoventilation Syndrome, or Congenital Central Alveolar Hypoventilation, with emphasis on speech therapy. Discussion: The diagnosis of Ondine's curse should be considered upon presence of episodes of apnea in newborns, with no clear indication of the cause and with no indications of seizures, severe pulmonary or cardiac injury of the brainstem or another cerebral region. The respiratory development characteristic of this child was being ventilator dependent for 24 hours a day until the end of the third month of life. Gradually, it was possible to leave the device with a continuous nasal oxygen flow while awake, and breathing with a ventilator under control during her periods of sleep. Specific treatment with installation of diaphragmatic pacemaker, is the only treatment available to date.
Objetivo: relatar el caso de un recién nacido (RN) con comprometimiento del sistema nervioso autónomo caracterizado por falta de sensibilidad para detectar el aumento de la emisión de CO2 y la disminución de O2, conocido como La Maldición de Ondina, o Síndrome de Hipoventilación Central Congénita o Hipoventilación Alveolar Primaria, con énfasis al acompañamiento fonoaudiológico. Discusión: El diagnóstico de la Maldición de Ondine debe ser considerado en la presencia de episodios de apnea en recién nacidos, sin que se pueda aclarar la causa y que sea rechazada la posibilidad de crisis epiléptica, trastorno pulmonar y/o cardiaco severo, lesión de tronco o otra región encefálica. El desarrollo respiratorio de este niño fue de dependencia del respirador por 24 horas hasta el final del tercer mes de vida. Progresivamente fue posible dejarla con un flujo nasal continuo de oxígeno mientras se mantenía despierta, y con respirador en forma controlada durante los períodos de sueño. El tratamiento específico con la instalación de un marcapasos diafragmático, es el único tratamiento disponible hasta la fecha.
