Early prenatal sonographic diagnosis of neuropathic arthrogryposis multiplex congenita with osseous heterotopia.
A prenatal diagnosis of arthrogryposis multiplex congenita (AMC) has been carried out on a 19-week-old fetus by means of echography. The ultrasonographic characteristics were unnatural position of the four limbs associated with articular anomalies together with absence of active fetal movements. A therapeutic interruption of pregnancy was performed and the diagnosis was confirmed. At autopsy, architectural disorder of the motor neurons of the anterior medullary horn revealed a neuropathic pathogenesis of the arthrogryposis. Moreover, at the lumbar level the spinal cord was progressively replaced by heterotopic bony tissue which caused a more severe deformity of the lower limbs compared with the upper. The aspects of anatomo-pathological, genetic, and differential diagnosis are discussed showing the precocity of the prenatal diagnosis and the peculiarity of the aetiology of our case.
Gullino
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E
Department of Genetics, Hospital USSL 61, Savigliano (Cuneo), Italy.
Abrate
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M
Zerbino
E
E
Bricchi
G
G
Rattazzi
P D
PD
D000032:Abortion, Therapeutic; D000328:Adult; D001176:Arthrogryposis / Q000000981:diagnostic imaging* / Q000209:etiology / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D009999:Ossification, Heterotopic / Q000150:complications; D010375:Pedigree; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D013116:Spinal Cord / Q000473:pathology; D016216:Ultrasonography, Prenatal