A severe case of Moebius syndrome with calcification on the fourth ventricular floor.
We report the case of a Japanese girl with a severe type of Moebius syndrome. Her morphological features were a mask-like face, limitation of horizontal eye movements, severe bulbar palsy, multiple and bilateral arthrogryposis including the elbow, knee, and ankle joints, and clubfeet. After birth, her general condition became worse because of repeated apneic spells and aspiration pneumonias due to dysphagia. She finally required tracheotomy. Computed tomography (CT) of the brain revealed minute calcifications on the fourth ventricle floor; this may have been due to severe damage to the brain stem. It is most likely that the various manifestations in our patient were due to disturbance of the blood supply to arteries perfusing the brain stem and to some other arteries, at a critical stage of fetal development.
Matsunaga
Y
Y
Department of Pediatrics, Nagasaki University School of Medicine, Japan.
Amamoto
N
N
Kondoh
T
T
Ohtsuka
Y
Y
Miyazoe
H
H
Kamimura
N
N
Matsumoto
T
T
Tsuji
Y
Y
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000196:embryology; D001933:Brain Stem / Q000002:abnormalities / Q000098:blood supply; D002114:Calcinosis / Q000000981:diagnostic imaging*; D002552:Cerebral Ventricles / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D013348:Subclavian Artery / Q000002:abnormalities; D013577:Syndrome; D014057:Tomography, X-Ray Computed