Overview of Neonatal Lupus

Benay Johnson, MSN, RN, CPNP, NNP-BC

Disclosures

J Pediatr Health Care. 2014;28(4):331-341. 

In This Article

Clinical Manifestations

Cutaneous

NL skin lesions can present at up to 6 weeks of life or later (Inzinger et al., 2012). The rash can be a malar pattern as in the adult form of SLE (Pain & Beresford, 2007) or other cutaneous lesions, and it may or may not differ from the adult presentation (Lee, 2009). Of the babies who are affected by NL, half will present with cutaneous lesions that are photosensitive to direct sunlight (Hoath & Narendran, 2011).

Telangiectasia was first reported in 1976 by Vonderheid (Guinovart et al., 2012). Telangiectasia is defined as small focal red macules and papules created by abnormally prominent capillaries, venules, and arterioles that are markers of connective tissue disease (Guinovart et al., 2012). These lesions can be classified as primary or secondary. Primary telangiectasia includes angioma serpiginosum, hereditary benign telangiectasia, generalized essential telangiectasia, spider hemangioma, hereditary hemorrhagic telangiectasia, and ataxia-telangiectasia. If present, telangiectasia is considered a permanent residual effect of NL (Hoath & Narendran, 2011). Secondary telangiectasia usually does not present during childhood.

First reported in the literature by Greist and Probst in 1980 and by Carrascosa, Ribera, and Bielsa in 1996 (Heughan & Kanigsberg, 2007), cutis marmorata telangiectasia congenital is an uncommon vascular anomaly. This particular lesion presents as a congenital persistent, reticulated, violaceous pigmentation of blue-violet. Lesions may be associated with atrophy and ulcerations. Table 3 documents descriptions of recent cutaneous finding in the literature and the associated author(s). Borchers et al. (2010) found that anti-RNP antibodies are exclusive to the cutaneous finding of autoimmune disease.

Cardiac

Cardiac abnormalities can be the most serious result of a mother who is positive for autoantibodies, especially third-degree heart block. Cardiac findings related to NL are considered the most common finding outside of cutaneous findings (Inzinger et al., 2012). Apoptosis or programmed cell death was proposed as a way that the antigen of SLE travels to the myocardial cells to be exposed to antibodies (Qu & Boutjdir, 2012). Anti–SS-A/Ro and anti–SS-B/La antibodies are not the single causative agent of CHB, but Cimaz and colleagues (2006) proposed that these antibodies are influenced by inflammatory mediators such as tumor necrosis factor and transforming growth factor.

Data are conflicting with regard to the onset of CHB. Most cases are diagnosed by 18 to 24 months of age (Pain & Beresford, 2007), which corresponds to the first prenatal ultrasound. Tunaoglu, Yildirim, and Vurali (2010) noted that this period corresponds to the time of transfer of the maternal IgG antibodies to the fetus. Buyon and colleagues (2009) examined serial echocardiograms of fetuses whose mothers were positive for anti–SS-A/Ro antibodies and noted that a fetus with normal sinus rhythm could progress to first- or second-degree heart block within 2 weeks.

Cardiac abnormalities can present as first-, second-, or third-degree heart block. These findings can present in utero (Inzinger et al., 2012) or postnatally. If a mother has a negative history of an autoimmune disorder, persistent sinus bradycardia may be the first finding that prompts investigation into CHB. More than likely, this finding will be incidental when vital signs are obtained and the heart assessment is completed. Other cardiac findings related to NL are QT prolongation and cardiomyopathy in the form of ventricular dilation, systolic dysfunction, or myocardial hypertrophy with or without EFE. Pises and colleagues (2009) first reported EFE associated with maternal autoantibodies without right ventricular atrioventricular block. Echocardial brightness on an echocardiogram is suggestive of EFE. The development of fetal hydrops can be a devastating result of cardiac changes due to these autoantibodies.

What differentiates the various degrees of CHB is the length of prolongation between the contraction of the atria, the contraction of the ventricles, and the resulting electrocardiogram pattern. Table 4 describes the difference in presentation between first-, second-, and third-degree heart block. In a study by Yang and colleagues (2010), 16% of babies presented with CHB without skin manifestations. Tunaoglu and colleagues (2010) presented a case of a female newborn who was diagnosed with CHB prenatally at 30 week's gestation. Postnatally the baby was determined through electrocardiography to have CHB. The baby possessed anti–SS-A/Ro antibodies but lacked anti–SS-B/La antibodies along with ANA and anti-dsDNA, unlike the mother, who was positive for ANA and anti–SS-A/Ro antibodies. At follow-up, the authors noted that at 8 years of age, the child had not experienced heart failure or growth restrictions as a result of having CHB.

Hepatobiliary Disease

NL has other manifestations besides those that are cutaneous and cardiac. These noncardiac manifestations present in the liver, hematologic system, central nervous system, and musculoskeletal system. Liver disease in relationship to NL is uncommon in the literature, although a transient elevation in transaminase in the newborn is a common finding (Shahian, Khosravi, & Anbardar, 2011). Zuppa and colleagues (2008) reports that liver manifestations are reported in the literature at a rate of 10% to 25%. Admani (2012) reported a case of NL in an infant with elevated aspartate aminotransferase, alanine aminotransferase, and alkaline phosphatase along with cutaneous findings. If liver failure does occur, it can present in utero or after delivery (Shahian et al., 2011).

Hematologic

In addition to hepatobiliary findings, changes can be observed in the hematologic and neurologic examinations. Anemia, neutropenia (Pain and Beresford, 2007), and transient thrombocytopenia (Shahian et al., 2011) have been noted; however, lymphopenia has not been observed in patients with NL (Lee, 2009). In the newborn, such a finding suggests an anemia from a hemolytic or autoimmune process. Similar to cutaneous findings, hematology manifestations resolve over 2 to 3 months without treatment (Shahian et al., 2011).

Neurologic

Neurologic findings in patients with NL have been described, but it is unknown if neurologic changes are due to antibodies or if they are independent entities. The exact frequency at which neurologic involvement occurs is unknown (Zuppa et al., 2008). Boros, Spence, Blaser, and Silverman (2007) prospectively looked at 87 babies who were born to mothers positive for anti–SS-A/Ro antibodies. Forty-seven of these babies were diagnosed with NL. Out of this group, five were reported to have hydrocephalus. The authors concluded the prevalence to be 8%. Askanase, Izmirly, Katholi, Mumtaz, and Buyon (2010) concluded in their study that a high incidence of neuropsychiatric abnormalities occurred in children who had a history of an elevated anti–SS-A/Ro titer. A prevalence of attention deficit-hyperactivity disorder was recorded.

Musculoskeletal

In a review of noncardiac manifestations in patients with NL, Silverman and Jaeggi (2010) proposed that chondrodysplasia punctata is a skeletal manifestation of NL. This entity is defined as radiographic evidence of stripping in the areas of the epiphyses and/or the spine (Silverman & Jaeggi, 2010). Herzog, Bernstein, and Shanske (2007) presented a case report involving a mother diagnosed with SLE 8 months after she delivered a newborn male with chondrodysplasia punctuate. Other causes can be linked to genetics, viral exposure, maternal use of Dilantin or warfarin, and with a maternal vitamin K deficiency. This finding may be an independent finding instead of an association.

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