Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In many cases so called neonatal hepatitis of unknown origin nowadays is recognized as a manifestation of alpha1-antitrypsin deficiency. Out of 12 patients with Pi-type ZZ, 5 were diagnosed because of cholestatic jaundice, 2 because of hepato-splenomegaly in the first trimenon, and 3 by family examination. We believe that the affection may be due to a perinataly acquired cytomegalic inclusion disease in one case, in another to a congenital rubella infection. The latter child died at the age of one year because of an esophageal hemorrhage. Over a mean observation time of 3 years the other patients are doing well and show no signs of portal hypertension. The very different course of the hepatopathy is demonstrated. Common bacteria or toxins which do not usually lead to an illness may be realisation factors just as "classical" causes of hepatitis. Up to now it is not known how these factors influence the course of alpha-antitrypsin deficiency.
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PMID:[alpha1-antitrypsin deficiency. Clinical and morphological aspects during childhood (author's transl)]. 21 96

The original TORCH complex described clinically similar congenital infections caused by Toxoplasma gondii, rubella virus, cytomegalovirus, and herpes simplex virus, types 1 and 2. Cutaneous manifestations, including petechiae, purpura, jaundice, and dermal erythropoiesis, are commonly seen in toxoplasmosis, rubella, and cytomegalovirus infections. In herpes simplex virus infections, 80% of symptomatic infants show single or grouped cutaneous vesicles, oral ulcers, or conjunctivitis. Extracutaneous signs and symptoms are variable and can be severe. Significant clinical signs in congenital toxoplasmosis include diffuse intracerebral calcification, chorioretinitis, and microcephaly; congenital rubella can result in deafness, congenital heart disease, retinopathy, and brain calcification. Cytomegalic inclusion disease can include hepatomegaly, splenomegaly, paraventricular calcification, and intrauterine growth retardation. Localized or disseminated congenital herpes virus infection often involves the central nervous system and the eye. Diagnosis is confirmed by culture and identification of species-specific immunoglobulin M within the first 2 weeks of life. Histological examination contributes to the diagnosis in herpes simplex virus infection. Treatment for toxoplasmosis includes pyrimethamine with sulfadiazine or trisulfapyrimidine; congenital herpes simplex virus infection is treated with acyclovir. No specific therapy for congenital rubella or cytomegalovirus infections has been established, and so treatment is primarily supportive.
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PMID:TORCH syndrome. 764 Feb