Poland syndrome associated with an aberrant subclavian artery and vascular abnormalities of the retina in a child exposed to misoprostol during pregnancy.
BACKGROUND
Poland syndrome has been attributed to a process of vascular disruption, and exposure to misoprostol at 6-8 weeks of gestation has been shown to produce defects attributed to vascular disruption. Herein we report the first case of a patient with Poland syndrome associated with an aberrant subclavian artery and vascular abnormalities of the retina, whose mother used misoprostol during pregnancy.


METHODS
A White boy of 1 year and 7 months of age, whose mother used misoprostol during the second month of pregnancy, presented with bilateral epicanthal folds, aplasia of the sternocostal head of the pectoralis major muscle with a hypoplastic nipple on the right side, and asymmetry between the upper limbs. The results of an angiotomographic study showed the presence of an aberrant right subclavian artery. Ultrasonographic evaluation showed turbulence and a high peak in the diastolic velocity in both carotid arteries, suggesting stenosis. Ophthalmologic assessment disclosed an intense bilateral tortuosity of the retinal blood vessels, with arterialnarrowing and rarefaction of the retinal pigment epithelium.


CONCLUSIONS
This case suggests that the mechanism of vascular disruption of misoprostol could be related to the aberrant subclavian artery and the observed Poland syndrome. His retinal findings are different from those in cases described thus far in the literature, and this pattern of anomaly has never been associated with a gestational exposure to misoprostol. The possibility of a relationship of the aberrant right subclavian artery and the pattern of blood flow verified in the carotid arteries with the eye fundus abnormalities could be causally related or simply coincidental.
Rosa
Rafael Fabiano Machado
RF
Clinical Genetics Discipline, Fundação Faculdade Federal de Ciências Médicas de Porto Alegre, Porto Alegre, Brazil.
Travi
Giovanni M
GM
Valiatti
Fabiana
F
Zen
Paulo Ricardo Gazzola
PR
Pinto
Louise Lapagesse
LL
Kiss
Andrea
A
Graziadio
Carla
C
Paskulin
Giorgio Adriano
GA
D000014:Abnormalities, Drug-Induced; D000020:Abortifacient Agents, Nonsteroidal / Q000009:adverse effects*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D016595:Misoprostol / Q000009:adverse effects*; D011045:Poland Syndrome / Q000139:chemically induced*; D011247:Pregnancy; D012164:Retinal Diseases / Q000139:chemically induced*; D012171:Retinal Vessels / Q000187:drug effects*; D013348:Subclavian Artery / Q000002:abnormalities*
D000020:Abortifacient Agents, Nonsteroidal; D016595:Misoprostol