Dopamine receptor D3 (DRD3) gene rs6280 variant and risk for restless legs syndrome.

Abstract

To the Editor Ondine’s curse is a failure of autonomic respiration when asleep, despite normal respiration while awake. It is reported in pathologic conditions which involve the brainstem or spinal cord. [1] Though diverse pathologies are known to cause this rare phenomenon, [2] there has been no reported case of paraneoplastic brainstem syndrome which manifested Ondine’s curse. A 54 year old woman with recurrent breast cancer insidiously developed stiffness of the trunk and arms, and trismus. Voluntary horizontal gaze was impossible with impaired vestibule–ocular reflex, although vertical eyeball movement was intact. Her brain and cervical spine MRI were normal. Anti-Ri antibody was positive in the patient’s serum and Anti-GAD antibody was negative. She had recurrent episodes of O2 desaturation (down to 49 mmHg), CO2 retention (up to 144 mmHg), and poor response to stimulation while asleep. Her awake O2 and CO2 values were normal. She was incubated and had mechanical ventilation. Even after a tracheostomy, she could not be weaned off from the ventilator due to persistent nocturnal respiratory failure. She continued to show decreased ventilator activity with a decrease in rate (down to six/minute) and tidal volume (300 ml) during sleep resulting in O2 desaturation and CO2 retention. Spontaneous breathing while awake was normal in a rate of (16–20/min) and tidal volume (400 ml). She was discharged with bi-level positive airway pressure, support. The pathology is believed to be in the pons causing horizontal gaze palsy and trismus, and to have extended downward to the medulla causing Ondine’s curse. Respiratory failure is reported in paraneoplastic brainstem syndrome, but the causes included laryngospasm or increased respiratory muscle spasm [3]. To our knowledge, this is the first report of Ondine’s curse as a neurologic complication of paraneoplastic syndrome.

DOI: 10.1016/j.sleep.2012.11.009

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@article{JimnezJimnez2013DopamineRD, title={Dopamine receptor D3 (DRD3) gene rs6280 variant and risk for restless legs syndrome.}, author={F{\'e}lix Javier Jim{\'e}nez-Jim{\'e}nez and Hortensia Alonso-Navarro and Carmen Mart{\'i}nez and Mart{\'i}n Zurdo and Laura Turp{\'i}n-Fenoll and Jorge Mill{\'a}n and Teresa Adeva-Bartolom{\'e} and Esther Cubo and Francisco Jos{\'e} Navacerrada and Marisol Calleja and Jos{\'e} Francisco Plaza-Nieto and Bel{\'e}n Pilo-de-la-Fuente and Margarita Arroyo-Solera and Ana Rojo-Sebasti{\'a}n and Lluisa Rubio and Jos{\'e} A. G. Ag{\'u}ndez and Elena Garcia-Martin}, journal={Sleep medicine}, year={2013}, volume={14 4}, pages={382-4} }