Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical manifestations of pediatric systemic lupus erythematosus (SLE) are similar to those seen in adults with SLE with increased frequency of the following features: hepatosplenomegaly, chorea, nephritis, and avascular necrosis. Similarly, pediatric SLE patients are now showing the same improvement in survival as adult SLE patients, and it is no longer felt that the course of childhood-onset SLE is more severe than that seen in adult-onset SLE. Children of mothers with SLE can develop both transient and persistent features of SLE in the neonatal period. Transient features include photosensitive discoid rash, cytopenia, hepatosplenomegaly, myocarditis, and pericarditis; the permanent features include congenital complete heart block, endomyocardial fibroelastosis, and other structural cardiac defects.
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PMID:Pediatric systemic lupus erythematosus and neonatal lupus. 815 96

The authors report 6 cases of neonatal lupus erythematosus (NLE) who were seen at Ramathibodi Hospital from 1993 to 2000. The female to male ratio was 1:5. Cutaneous lesions were the major manifestation in all cases. Other clinical manifestations were thrombocytopenia, hepatosplenomegaly and mild elevation of liver enzymes. Skin rashes mostly erupted at 3-6 weeks old. None had a complete heart block but one had abnormal electrocardiograph (ECG) changes compatible with Wolff-Parkinson-White syndrome (WPW). Four of six patients had thrombocytopenia. All of the abnormalities resolved spontaneously except thrombocytopenia. Three of six needed blood transfusion to replace blood loss from gastrointestinal bleeding. Intravenous immunoglobulin (IVIG) 2 g/kg was given in 3 cases with good response in two of three cases. Platelets rose rapidly and maintained at a normal level within 24-48 hours. Combined therapy with corticosteroid 2 mg/kg was given to 1 case with good outcome. Telangiectasia was the most common sequelae especially in patients who had periorbital lesions resembling raccoon's eyes. The authors conclude that IVIG in the dose of 1 g/kg for 1-2 days is an effective treatment for NLE with severe thrombocytopenia especially when corticosteroid is contraindicated.
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PMID:Neonatal lupus erythematosus: clinical manifestations and management. 1254 10

Neonatal lupus erythematosus is a rare, passively acquired autoimmune disease, caused by maternal autoantibodies. The most common manifestations are skin rash and congenital heart block. Cutaneous manifestations may be present at birth, but often develop within a few weeks after delivery. Congenital heart block may present as bradycardia in utero or during physical examination at birth. Approximately 40-60% of mothers are asymptomatic when the infants are diagnosed. We present a case of a child, born with erythematosus lesions in the face, scalp, trunk, limbs and nodules/papules on the palmar and plantar surfaces. He also had hepatosplenomegaly and thrombocytopenia. Echocardiography showed hyperechoic lesions on the anterior papilar muscle of the left ventricle and on the lateral cusp of the tricuspid valve. The mother had unexplained fever and vasculitic lesions in her hands and feet. Antinuclear antibodies, anti-SSa/Ro and anti-SSb/La were positive in the mother and child, making the diagnosis of neonatal lupus.
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PMID:Neonatal lupus with atypical cardiac and cutaneous manifestation. 2383 5

Background - Neonatal lupus erythematosus is an uncommon acquired autoimmune disease caused by transplacental passage of maternal antibodies SSA/Ro, SSB/La or U1 ribonucleoproteins. The most common clinical manifestations are skin rash, cardiac lesions, thrombocytopenia, anemia and hepatosplenomegaly. Complete congenital heart block is usually irreversible needing a pacemaker implantation in two-thirds of cases. Cases report - We report neonatal lupus erythematosus with complete congenital heart block in twins. Newborns were delivered by caesarean section at week 38 of gestation with a heart rate regular at 70 beats per minute. Both twins and mother were positive for antinuclear, anti-SSA, and anti-SSB antibodies. Twins received single-chamber pacemaker implants at day 12 of life. The evolution was immediately favorable with a heart rate around 110 beats per minute. The follow-up was 2 years. The twins are currently asymptomatic. Conclusion - Complete congenital heart block is the most serious manifestation of the neonatal lupus erythematosus associated with significant morbidity and mortality.
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PMID:Neonatal lupus erythematosus with congenital heart block in twins. 2805 Dec 34