Möbius syndrome: evidence for a vascular etiology.
We report five infants with restricted lateral gaze, facial diplegia, feeding difficulty, and/or respiratory disorders without significant pulmonary disease. Viral studies were negative in all patients. Two children had radiologic findings that included brain-stem hypoplasia and symmetric calcification in the dorsal tectum at the junction of the midbrain and pons. Autopsy of one of these two children demonstrated capillary telangiectasia in the mesencephalon and pons. The other three children had normal computed tomographic (CT) scans. However, their autopsies revealed focal brain-stem necrosis with calcifications but without vascular malformation. We suggest that the capillary malformations in one of our patients directly resulted in a vascular-induced necrosis and the manifestation of Möbius sequence. The similarity of symmetric neuropathologic findings in the three other patients and the CT scan in the one surviving patient suggest focal hemodynamic changes restricted to the posterior circulation, indirectly supporting a vascular theory of embryopathogenesis.
D'Cruz
O F
OF
Department of Neurology, University of North Carolina, Chapel Hill 27599-7025.
Swisher
C N
CN
Jaradeh
S
S
Tang
T
T
Konkol
R J
RJ
D001927:Brain Diseases / Q000150:complications* / Q000473:pathology; D002545:Brain Ischemia / Q000150:complications / Q000209:etiology; D001933:Brain Stem / Q000098:blood supply; D002114:Calcinosis / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D005158:Facial Paralysis / Q000209:etiology*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009886:Ophthalmoplegia / Q000209:etiology*; D011859:Radiography; D013577:Syndrome