Infant with severe penicillamine embryopathy born to a woman with Wilson disease

Abstract

We report a chromosomally normal infant boy with congenital diffuse cutis laxa, severe micrognathia, contractures of all limbs, and central nervous system abnormalities including agenesis of the corpus callosum, born to a woman taking D-penicillamine (DP) for Wilson disease (WD) throughout her pregnancy. His postnatal course was remarkable for chronic lung disease, profound developmental delays, and probable cortical blindness, as well as resolution of his cutis laxa. Embryopathy is a rare complication in babies born to pregnant women treated with DP, and there have been only seven previous reports of birth defects in exposed infants (three of which had favorable postnatal outcomes). The etiology of the severe outcome in this boy is unclear, but prenatal measurement of maternal copper and zinc levels may be indicated for management.

ACG Clinical Guideline: Liver Disease and Pregnancy

“…Some data on conversion to zinc therapy during pregnancy has also been reported (156)(157)(158). Th ere are also multiple case reports of fetal myelosuppression or embryopathy associated with penicillamine treatment during pregnancy for WD (159)(160)(161)(162). On the other hand, treatment discontinuation or lack of treatment for WD can not only lead to maternal hepatic decompensation but can also lead to copper deposition in the placenta and fetal liver, damaging the fetus along with recognized risks of maternal hepatic decompensation.…”

Movement Disorders and Pregnancy

“…Treatment of WD includes chelation therapy using d-penicillamine, trientine, and tetrathiomolybdate. While Sinha et al [53] did not report teratogenicity when using low-dose d-penicillamine in their pregnant patients, others have reported d-penicillamine and trientine teratogenicity [54,55]. Therefore, pregnant women with WD should probably be treated solely with zinc, as teratogenicity has not been reported with this pharmacologic.…”

Wilson—KonovaloW disease

“…Дозы D-пеницилламина, со-ставляющие 0,75-1 г/сут, не представляют риска для плода [18,26]. Если планируется кесарево сечение, то за 6 нед до родоразрешения и на весь срок до заживле-ния послеоперационной раны дозу D-пеницилламина необходимо снизить до 250 мг/сут.…”