Joubert syndrome. Respiratory failure requiring home mechanical ventilation.
A case of Joubert's Syndrome with respiratory insufficiency requiring mechanical ventilatory support is presented. The case illustrates the complex clinical, ethical and technical aspects in the management of patients with this syndrome and the feasibility of extending mechanical ventilatory support to the home setting. A caring, knowledgeable care team and a loving supportive family are required to properly continue treatment in the home in cases of this rare syndrome.
Mercado
A
A
Respiratory Service, San Pablo Medical Center.
Pedraza
L
L
Mayol
P M
PM
Rodríguez Santana
R
R
Tejeda
C
C
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D002531:Cerebellum / Q000002:abnormalities; D002675:Child, Preschool; D004992:Ethics, Medical; D005808:Genes, Recessive; D006699:Home Care Services; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010348:Patient Care Team; D011788:Quality of Life; D012121:Respiration, Artificial; D012131:Respiratory Insufficiency / Q000209:etiology / Q000628:therapy*; D013577:Syndrome