Association of aortic arch anomalies and subclavian artery supply disruption with neurofibromatosis.
We report an 8-year-old Japanese girl with von Recklinghausen disease, who presented with aortic arch anomalies and left hemilateral oculo-otolaryngeal abnormalities including strabismus, blepharoptosis, a dysplastic external ear and hearing loss. The aortic arch anomalies including subclavian artery obstruction that appeared to be a consequence of the neurofibromatosis, and the hemilateral oculo-otolaryngeal abnormalities could be explained by disruption of the subclavian artery supply during embryogenesis.
Nakagawa
Masao
M
Department of Pediatrics, Shiga University of Medical Science, Seta, Otsu, Shiga 520-2192, Japan. masao@belle.shiga-med.ac.jp
Osawa
Yu
Y
Hanato
Takashi
T
Fujino
Hidetoshi
H
Watanabe
Noriko
N
Takeuchi
Yoshihiro
Y
D000015:Abnormalities, Multiple; D001013:Aorta, Thoracic / Q000002:abnormalities*; D001763:Blepharoptosis / Q000209:etiology; D006328:Cardiac Catheterization; D002648:Child; D005260:Female; D034381:Hearing Loss / Q000209:etiology; D006801:Humans; D007830:Larynx / Q000002:abnormalities; D009456:Neurofibromatosis 1 / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D013902:Radiography, Thoracic; D013285:Strabismus / Q000209:etiology; D013348:Subclavian Artery / Q000002:abnormalities*; D013349:Subclavian Steal Syndrome / Q000175:diagnosis* / Q000209:etiology; D014057:Tomography, X-Ray Computed