Chondrodysplasia Punctata in an Infant Suspected Secondary to Maternal Systemic Lupus Erythematosus

Background Systemic lupus erythematosus (SLE) may cause maternal and/or fetal complications in pregnancy. Fetal complications such as miscarriage and neonatal lupus/congenital heart block are well-described, but there are a small number of case reports in the literature of skeletal dysplasia suspected secondary to maternal SLE.[1] We report here a case of chondrodysplasia punctata suspected secondary to maternal SLE. Case Report A 31-year-old female was diagnosed with SLE 6 years prior to pregnancy. Manifestations had included arthritis, oral ulcers, Raynaud’s phenomenon, pleuritis, myositis, neutrophilic urticaria, cytopenias, and hypocomplementemia. Serologic testing revealed positivity for ANA, SSA, and anti-Smith antibodies. At the time of pregnancy, she was being treated with hydroxychloroquine, anakinra, IVIG, and low-dose prednisone. She had previously been treated with azathioprine, methotrexate, mycophenolate mofetil, tacrolimus, rituximab, upadacitinib, and anifrolumab but had not received any of these immediately preceding or during pregnancy. The patient became pregnant unexpectedly and started on routine care for SLE with SSA antibodies in pregnancy. This included hydroxychloroquine 400mg daily, low-dose ASA for pre-eclampsia prophylaxis, weekly fetal heart rate monitoring between weeks 16-26, and echocardiogram at week 20. On detailed anatomic ultrasound at 20 weeks a flattened nasal profile was noted, suspicious for midface hypoplasia. Additionally, there were at least 2 vertebral segmental anomalies. This prompted referral to Medical Genetics for evaluation of a potential skeletal dysplasia, in particular chondrodysplasia punctata. Subsequent ultrasounds confirmed findings. Fetal genetic testing via amniocentesis was negative for any causal mutations. There were no exposures to teratogens or infections associated with chondrodysplasia punctata. Chondrodysplasia punctata has been occasionally reported associated with maternal autoimmune disease. Therefore, it was suspected that the infant’s presentation was secondary to maternal SLE. The infant was born at 39 weeks and was small for gestational age. On subsequent examination, features of midface hypoplasia were confirmed and X-rays of the spine revealed multilevel vertebral segmentation anomalies. The infant is pending further evaluation by pediatric orthopedic surgery. Conclusion SLE has numerous well-described effects on mother and fetus in pregnancy. However, fetal malformations are only rarely described. We report a case of chondrodysplasia punctata in an infant born to a mother with SLE in which all other known causes of chondrodysplasia punctata (genetic, medication, infections) were excluded. This adds to a growing number of reports suggesting a possible association between SLE and chondrodysplasia punctata. References [1.] Chitayat D. Am J Med Genet A 2008;146A:3038-53.