Toriello-Carey syndrome associated with respiratory failure and non-mechanical ileus.
Toriello-Carey syndrome comprises agenesis of the corpus callosum, telecanthus, small palpebral fissures, Pierre Robin sequence, abnormal ears, and cardiac defects. We report a boy who has some additional findings, including a severe respiratory failure and intestinal dysmotility. The boy died of these two disorders at age 13 months. Histological examination revealed pulmonary immaturity and a defect of smooth muscle cells in the longitudinal muscle coat of the intestinal musculature, both of which might explain some aspects of the pathophysiology of the patient.
Kataoka
Tatsuki R
TR
Department of Pathology, Osaka University Medical School/Graduate School of Frontier Bioscience, Suita, Osaka, Japan.
Ito
Akihiko
A
Nakabori
Tasuku
T
Koma
Yu-ichiro
Y
Nakai
Hiroshi
H
Kamata
Shinkichi
S
Kitamura
Yukihiko
Y
D000015:Abnormalities, Multiple / Q000473:pathology*; D061085:Agenesis of Corpus Callosum; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D045823:Ileus / Q000473:pathology*; D007223:Infant; D007421:Intestine, Small / Q000473:pathology* / Q000648:ultrastructure; D008168:Lung / Q000473:pathology / Q000648:ultrastructure; D008279:Magnetic Resonance Imaging; D008297:Male; D012131:Respiratory Insufficiency / Q000473:pathology*; D013577:Syndrome