|Year : 2016 | Volume
| Issue : 2 | Page : 134-136
Rare case of bilirubin encephalopathy due to neonatal lupus erythematosus
Mamta Jajoo, Medha Mittal, Vikas Dabas
Department of Pediatrics, Chacha Nehru Bal Chikitsalaya, (Associated to Maulana Azad Medical College), New Delhi, India
|Date of Web Publication||8-Apr-2016|
Department of Pediatrics, Room No. 303, Chacha Nehru Bal Chikitsalaya, (Associated to Maulana Azad Medical College), Geeta Colony, Government of NCT of Delhi, New Delhi - 110 031
Source of Support: None, Conflict of Interest: None
Unconjugated hyperbilirubinemia is an important cause of neonatal morbidity. Here we report a case of acute bilirubin encephalopathy attributed to neonatal lupus. Transient hematologic manifestations including anemia, leukopenia, and thrombocytopenia are commonly encountered in neonatal lupus but isolated hemolytic anemia leading to severe hyperbilirubinemia in an otherwise asymptomatic newborn is an unusual presentation of neonatal lupus and to our best of knowledge not yet reported in published literature.
Keywords: Bilirubin encephalopathy, lupus, newborn
|How to cite this article:|
Jajoo M, Mittal M, Dabas V. Rare case of bilirubin encephalopathy due to neonatal lupus erythematosus. J Clin Neonatol 2016;5:134-6
| Introduction|| |
Jaundice is an important cause of morbidity in the 1 st week of life. High bilirubin levels may be toxic to the developing central nervous system and may cause neurological impairment even in term newborns. 
Early and appropriately instituted treatment can prevent this significant cause of neurological morbidity. While it is important to start treatment early, it is also important to dwell on its causes.
We are presenting a case of unconjugated hyperbilirubinemia with encephalopathy and on detailed workup could be attributed to neonatal lupus erythematosus (NLE). Among cases of neonatal lupus also isolated hemolytic anemia leading to acute bilirubin encephalopathy is a very rare presentation.
| Case Report|| |
A full term, 2600 g Indian male, product of nonconsanguineous marriage presented to us at 40 h of life with yellowish discoloration of the body since last 22 h and abnormal posturing for last 5-6 h. Infant was delivered by the normal vaginal route to a gravida three mother without any complication in a small private hospital and was discharged on the same day. Breastfeeding was started within 1 h of delivery and urine, and stool was passed within 24 h of birth. The family history was not contributory, and no sibling had similar complaints. The infant was normothermic with heart rate of 148/min and respiratory rate of 50/min. The whole body was deeply icteric until soles. On neurological examination, the baby was irritable with a shrill cry, anterior fontanel was normal, and there was intermittent hypertonia of limbs and an incomplete Moro's reflex. Other neonatal reflexes were absent. He had no organomegaly, and heart and lungs were normal on auscultation. Investigations on admission revealed a serum bilirubin of 738.2 μmol/l (43.17 mg/dL) (total), 17.95 μmol/L (1.05 mg/dL) (direct), normal blood sugar, normal serum electrolytes, normal blood gas, and negative sepsis screen. Complete blood count showed hemoglobin 13.3 g%, total leukocyte count 8390/cumm, and platelet counts of 1.8 × 10 5 /cumm, reticulocyte count, was 0.4%, and peripheral smear was suggestive of hemolysis. Mother's and baby's blood Groups were B and A positive, respectively. There was no G6PD deficiency or minor blood group incompatibilities. Direct Coomb's test (DCT) of infant was strongly positive, and mother's blood showed both DCT and Indirect Coomb's test positive. Antinuclear antibody of mother was sent subsequently and was positive in titer of more than 1:1280 and anti-Ro and anti-La were also detected. Infant also had a positive antinuclear antibody. Infant's ECG and Echocardiogram were normal. There was no family history of Lupus or connective tissue disease. The mother was in a good health with no medical problems, though her obstetric history revealed one previous stillbirth at 8 th month gestation the cause of which was not known. She had no abnormal finding on examination. She denied joint aches, photosensitivity or any other symptoms related to lupus.
The infant was immediately started on double surface intensive phototherapy. He was given intravenous immunoglobulin (IvIg) and also underwent double volume exchange transfusion. He developed progressive anemia (DCT positive) after exchange transfusion and required blood transfusion on day 12 of life.
At the time of discharge, the baby was stable, Moro's reflex was incomplete, and tone was increased but was accepting breastfeeds and gaining weight. Infant was started on early stimulation therapy and follow-up, at 3 months; his neurological examination was abnormal with no social smile and hypertonia of all limbs.
| Discussion|| |
Among the conditions leading to unconjugated hyperbilirubinemia are increased hemolysis due to hemolytic anemias resulting from inherent defects and enzyme abnormalities (G6PD deficiency) and from immunologic causes (Rhesus, ABO, and other blood group incompatibilities).  NLE is an uncommon condition which can cause immune-mediated anemia and hyperbilirubinemia. , An exhaustive search into the causes could lead to the detection of this rare cause of extreme hyperbilirubinemia. To the best of our information, it happens to be the first such case report.
Our case presented with acute bilirubin encephalopathy; DCT was highly positive as was maternal Indirect Coomb's test. Antinuclear antibodies were positive, and detection of anti-Ro and anti-La antibodies in both the baby and the mother clinched the diagnosis. The baby had no cardiac findings and no rash, and the mother was totally asymptomatic. Even after exchange transfusion followed by repeated IvIg, baby developed progressive anemia (DCT positive) and required blood transfusion at day 12 of life. In our patient, reticulocyte count was 0.4% which might seem unlikely in a case of severe hemolysis but there are some reports of lupus causing bone marrow suppression, and it could be possible that our infant could not mount an adequate response to the ongoing hemolysis. 
NLE occurs in about 1-2% of babies born to mothers with systemic lupus erythematosus (SLE) and sjogren's syndrome due to transplacental transfer of maternal immunoglobulin G class autoantibodies.  In 95% cases, the autoantibody is anti-Ro (SS-A) but it can be anti-La (SS-B) or anti-U1 RNP1 also, either alone or in combination. 
The prevalence of anti-SSA Ro antibodies in asymptomatic pregnant women has been estimated to be 0.5%, and about 40% of neonatal lupus cases occur among babies of these asymptomatic mothers.  About half of the asymptomatic mothers may develop autoimmune disease in the future which can be SLE, sjogren's syndrome (more likely than the former), rheumatoid arthritis, overlap syndrome or even leukocytoclastic vasculitis. 
Approximately, one-half of the infants present with photosensitive annular, erythematous polycyclic dermatitis, and other half presents with isolated congenital heart block (CHB). The most serious manifestation is damage to the cardiac conducting system that results in CHB, which is usually third degree, although less advanced blocks have been observed. CHB typically is identified between 16 and 24 weeks of gestation. The mortality rate is approximately 20%. 
In general, newborns with isolated heart blocks do not have skin lesions and vice versa.  Both are seen simultaneously in <10% of NLE patients. Transient hepatitis, thrombocytopenia, and anemia can also occur. More rarely, a hemolytic anemia or even a pancytopenia or aplastic anemia has been reported secondary to NLE. 
No serologic profile is unique to mothers of affected children, but compared with mothers of healthy children, anti-SSA/Ro antibodies are usually of high titer (frequently anti-52 kDa SSA/Ro-positive by immunoblot) and associated with anti-SSB/La antibodies.  If anti-Ro, (SS-A) positive mother has one child with NLE, only 25% of subsequent children born to this mother will be so affected. 
NLE may have a spectrum of presentations. The disease may range from mild and transient to a severe, life-threatening condition requiring immediate intervention, as in the case reported here. NLE presenting as jaundice may be missed in neonatal period as jaundice is common presentation in newborns and; and thus healthy appearing children with jaundice may be assumed to have physiologic jaundice of newborn. To our best knowledge, this is the first report of neonatal lupus presenting with severe hemolysis leading to unconjugated hyperbilirubinemia.
The authors would like to thank Dr. A. Mohta, Medical Director and Dr. B.Talukdar, Head of the Department of Pediatrics, Chacha Nehru Bal Chikitsalaya, for their contribution and support.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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