THE SPECTRUM OF MÖBIUS SEQUENCE IN 32 BRAZILIAN CHILDREN

Objectives: To evaluate the clinical and radiological features on 32 patients with Möbius sequence, in order to point out the increase of its incidence in South and Central America, including Brazil, resulting from the large and illegal use of Misoprostol as an abortifacient.

Methods: Clinical and neuroradiological studies, as well as the analysis of the gestational hystory on 32 cases.

Results: We studied 20 females (62.5%) and 12 males (37.5%). The most distinctive phenotypes were VI and VII cranial nerve palsies present in all patients, equinovarus feet (19 cases), leg amyoplasia (8 cases), micrognathia (5 cases), metacarpiphalangeal deformities (4 cases), ear defect (4 cases), ankylosis of the temporomandibular joint (3 cases) and laxity of ligaments (3 cases). Other abnormalities included arthrogryposis, deafness, autism, polydactyly, hypoplasia of the tongue, cleft palate and gothic palate. CT (n=19) revealed pontine calcification in 6 cases, one case of diffuse encephalic atrophy and 2 cases of noncommunicating hydrocephalus. MRI (n=9) showed absence of the facial colliculus in 8 cases associated with periventricular heterotopias in 2 cases, callosal hypoplasia in 3 cases and polymicrogyria in one case. In 15 of the 32 cases (46.8%) there was Misoprostol exposition in early pregnancy, exposition to teas to induce abortion in 2 cases, in 4 cases there was vaginal bleeding of unknown etiology and premature detachment of placenta in 2 cases.

Conclusion: Besides the VI and VII cranial nerve palsies, the equinovarus feet and leg amyoplasia were the most frequent phenotypes. In the neuroradiological study, all but one patients presented absence of the facial colliculus; pontine calcification was noted in one third of the cases. We confirmed that Misoprostol has severe teratogenic effect including Möbius sequence.