Central hypoventilation as the presenting symptom in Hu associated paraneoplastic encephalomyelitis.
Central hypoventilation is usually caused by ischaemic or neoplastic lesions of the medulla and upper cervical spinal cord. An autoimmune disorder is not usually considered in the differential diagnosis of this syndrome. We retrospectively identified 14 patients from our database of 202 patients with Hu antibodies who presented with brainstem symptoms. Three were admitted to hospital because of central hypoventilation. All underwent intubation and mechanical ventilation. They could breathe properly while they were awake but suffered deep apnoeas during sleep. Two died, but one is still alive requiring ventilatory assistance during sleep. Autopsy was performed in one of the patients which showed severe inflammatory infiltrates and neuronal loss in the medulla. All patients had normal brain imaging studies and the cause of central hypoventilation was an unsolved problem until Hu antibodies were determined.
Gómez-Choco
Manuel J
MJ
Hospital Clinic, Service of Neurology, Villarroel 170, Barcelona 08036, Spain. gomezchoco@hotmail.com
Zarranz
Juan J
JJ
Saiz
Albert
A
Forcadas
María I
MI
Graus
Francesc
F
D000368:Aged; D051959:ELAV Proteins / Q000097:blood; D000067779:ELAV-Like Protein 4; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020361:Paraneoplastic Syndromes, Nervous System / Q000150:complications* / Q000175:diagnosis* / Q000276:immunology; D012131:Respiratory Insufficiency / Q000209:etiology; D012189:Retrospective Studies; D020182:Sleep Apnea, Central / Q000209:etiology*
D051959:ELAV Proteins; D000067779:ELAV-Like Protein 4; C498010:ELAVL4 protein, human