Pulmonary involvement in tuberous sclerosis.
Tuberous sclerosis is a neurocutaneous syndrome involving many tissues. Pulmonary involvement is rare. Pulmonary cases are usually women of child-bearing age who present with spontaneous pneumothorax or progressive dyspnea. In childhood and, even more, in male patients, pulmonary involvement by tuberous sclerosis is exceptional. We report on a 4-year-old male patient diagnosed in the first months of life with tuberous sclerosis with predominantly respiratory symptoms (frequently with acute RDS criteria), in whom lung involvement was pathologically confirmed.
Vicente
M P
MP
Pediatric Intensive Care Unit (UCIP), Hospital Sant Joan de Déu, Esplugues de Llobregat, Spain.
Pons
M
M
Medina
M
M
D002675:Child, Preschool; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006801:Humans; D008168:Lung / Q000473:pathology; D008171:Lung Diseases / Q000175:diagnosis* / Q000209:etiology; D008297:Male; D012121:Respiration, Artificial; D012131:Respiratory Insufficiency / Q000209:etiology; D014402:Tuberous Sclerosis / Q000150:complications / Q000175:diagnosis*