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)

A male preterm infant (born at 34 weeks, birth weight 2130 g) developed jaundice (total bilirubin 7.4 mg/dl), hepatosplenomegaly, thrombocytopenia (82,000/microliters) and a raised C-reactive protein (1.2 mg/dl). Although sepsis was suspected, no organism was demonstrated. When the mother visited the child for the first time after 2 weeks, she had florid hyperthyroidism. This explained many of the child's clinical features (poor weight gain, tachycardia, exophthalmos). Both mother and child had raised TSH receptor antibodies (mother: 684.6 U/l; 54.1 U/l, normal < 15 U/l), an increased free T4 and a suppressed TSH. Because of the tachycardia, the child was treated with propranolol (1 mg/kg.d for 5 weeks). He was also initially given Lugol's solution (25 mg iodide/kg.d for 1 week) and then propylthiouracil (7 mg/kg.d) because of the increasing total T3. L-Thyroxine replacement was subsequently required for a period of 2.5 weeks because of treatment-related hypothyroidism. Since stopping treatment (at 12 weeks of age), the child has developed normally.--Neonatal hyperthyroidism due to transplacental transfer of TSH receptor antibodies associated with maternal Graves' disease is a rare self-limiting condition. However, it may pose considerable danger to the child both in utero and postnatally (with a mortality if untreated of up to 20%). Interdisciplinary cooperation is essential.
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PMID:[Neonatal hyperthyroidism in non-diagnosed Basedow's disease of the mother. Problems of diagnosis and therapy illustrated by a case history]. 799 50

Fetal and neonatal hyperthyroidism are usually produced by transplacental passage of thyroid-stimulating immunoglobulins. Most commonly, the thyroid-stimulating immunoglobulins are a component of active maternal Graves' disease. However, such antibodies may continue to be produced after ablation of the thyroid by surgery, radioiodine, or by the immune mechanisms of Hashimoto's thyroiditis. Other mechanisms that have produced fetal and neonatal hyperthyroidism include activating mutations of the stimulatory G protein in McCune-Albright syndrome and activating mutations of the thyrotropin (TSH) receptor. Fetal hyperthyroidism may be associated with intrauterine growth retardation, nonimmune fetal hydrops, craniosynostosis, and intrauterine death. Features of this condition in the neonate include hyperkinesis, diarrhea, poor weight gain, vomiting, ophthalmopathy, cardiac failure and arrhythmias, systemic and pulmonary hypertension, hepatosplenomegaly, jaundice, hyperviscosity syndrome, thrombocytopenia, and craniosynostosis. The time course of thyrotoxicosis depends on etiology. Remission by 20 weeks is most common in neonatal Graves' disease; remission by 48 weeks is nearly always seen. A subset of these patients may have persistent disease when there is a strong family history of Graves' diseases. Disease persistence is characteristic of patients with activating mutations of the TSH receptor. Treatment of fetal hyperthyroidism comprises administration of antithyroid drugs to the mother. Fetal heart rate and fetal growth should be monitored. Ultrasonography may reveal changes in thyroid size. At times, cordocentesis may be useful for monitoring fetal thyroid function. Hyperthyroid neonates may be treated with antithyroid drugs, beta-adrenergic receptor blocking agents, iodine, or iodinated contrast agents, and at times, with glucocorticoids and digoxin. Nonremitting causes of neonatal hyperthyroidism require ablative treatments such as thyroidectomy.
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PMID:Fetal and neonatal hyperthyroidism. 1044 21

The association of Hodgkin disease with monoclonal gammopathy has rarely been reported. We present a case of a 48-year-old woman with a history of autoimmune hemolytic anemia and Graves disease who presented with hepatosplenomegaly and a gamma-heavy-chain paraprotein. Histopathology of lymph node and bone marrow revealed nodular lymphocyte-predominance Hodgkin disease, while examination of the spleen revealed plasmacytosis consistent with gamma-heavy-chain disease. Following splenectomy, the patient has remained in complete remission for both conditions with no further treatment. To our knowledge, this is the first report of a patient with both gamma-heavy-chain disease and nodular lymphocyte-predominance Hodgkin disease. Given recent data indicating the B-cell nature of this form of Hodgkin disease, the authors propose that in this unique case there may be a clonal relationship between these 2 concurrent B-cell lymphoproliferative processes.
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PMID:Composite nodular lymphocyte-predominance Hodgkin disease and gamma-heavy-chain disease: a case report and review of the literature. 1137 Dec 36

Two of every thousand pregnancies are complicated by Graves' disease. Diagnosis is suggested by maternal disorders (tachycardia, exophthalmia, weight loss.) or fetal disorders (tachycardia, intra-uterine growth retardation, preterm birth.). Due to transfer into the fetal compartment of maternal antibodies which stimulate the fetal thyroid by binding to the thyroid thyrotropin (TSH) receptor, only 1% of children born to these mothers are described as having hyperthyroidism. Neonatal thyrotoxicosis disappears with clearance of the maternal antibodies; clinical signs usually disappear during the first four Months of life. The most frequent neonatal clinical signs of thyrotoxicosis are tachycardia, goiter, hyperexcitability, poor weight gain, hepatosplenomegaly, stare and eyelid retraction. Diagnosis is based on determination of the blood level of triiodothyronine (T3), thyroxine (T4) and TSH. To confirm the nature of hyperthyroidism, thyroid-stimulating immunoglobulins (TSI) should be assayed. The kinetics of TSI provides a guide for therapeutic adaptation and disappearance of TSI is a sign of recovery. Rare cases of familial non-autoimmune hyperthyroidism have been shown to be caused by germline mutation of the thyrotropin receptor. We report a case of severe neonatal hyperthyroidism which led to the diagnosis of maternal Graves' disease.
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PMID:[Severe neonatal hyperthyroidism which reveals a maternal Graves' disease]. 1524 72

Authors describe a case of a premature infant whose mother had a history of thyroidectomy due to Graves' disease and her hormonal status was not controlled during pregnancy. She did not receive prenatal care and on 33rd week the premature infant was delivered by emergency cesarean section because of fetal tachycardia and imminent intrauterine asphyxia. The infant with a weight of 1350 gram (percentile <10) was dysmature and had a large struma. The newborn received both conventional and high frequency ventilation for respiratory insufficiency and was treated with beta-blocker, digoxin and dobutamine for severe tachycardia (>180/min) and cardiac decompensation. Further examinations proved cardiomegaly, pericardial fluid, severe pulmonary hypoplasia, mitral- and tricuspid insufficiency and hepatosplenomegaly. The level of free thyroid hormones was several times higher than normal (fT4: > 6 ng/dl, fT3 > 30 pg/ml), while TSH level was 0. Respiratory support was required for 7 days, inotropic support for 10 days; at the same time propranolol and K-iodide were administered. Eventually, the tachycardia settled and beta-blocker therapy was continued with reduced doses. Finally, the thyroid hormone levels became normal. Authors emphasize that newborns of women suffering from Graves' disease can significantly lag behind in weight increase, may have severe circulatory insufficiency and symptoms of thyrotoxicosis. We also emphasize the importance of the monitoring maternal hormone levels and antibody titers.
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PMID:[Severe circulatory insufficiency in a patient with neonatal hyperthyroidism]. 2023 Nov 36

Graves' disease in childhood is a rare clinical entity. The authors report a case of Graves' disease in a 3-year-old child, who had opththalmopathy, accelerated growth, cervical lymphadenopathy, hepatosplenomegaly and congestive cardiac failure; and responded well to treatment.
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PMID:Juvenile Graves' disease with opthalmopathy, lymphadenopathy, accelerated growth and congestive cardiac failure. 2170 42

Haemoglobin Constant Spring (Hb CS) mutation and single gene deletions are common underlying genetic abnormalities for alpha thalassaemias. Co-inheritance of deletional and non-deletional alpha (alpha) thalassaemias may result in various thalassaemia syndromes. Concomitant co-inheritance with beta (beta) and delta (delta) gene abnormalities would result in improved clinical phenotype. We report here a 33-year-old male patient who was admitted with dengue haemorrhagic fever, with a background history of Grave's disease, incidentally noted to have mild hypochromic microcytic red cell indices. Physical examination revealed no thalassaemic features or hepatosplenomegaly. His full blood picture showed hypochromic microcytic red cells with normal haemoglobin (Hb) level. Quantitation of Hb using high performance liquid chromatography (HPLC) and capillary electrophoresis (CE) revealed raised Hb F, normal Hb A2 and Hb A levels. There was also small peak of Hb CS noted in CE. H inclusions was negative. Kleihauer test was positive with heterocellular distribution of Hb F among the red cells. DNA analysis for alpha globin gene mutations showed a single -alpha(-3.7) deletion and Hb CS mutation. These findings were suggestive of compound heterozygosity of Hb CS and a single -alpha(-3.7) deletion with a concomitant heterozygous deltabeta thalassaemia. Co-inheritance of Hb CS and a single -alpha(-3.7) deletion is expected to result at the very least in a clinical phenotype similar to that of two alpha genes deletion. However we demonstrate here a phenotypic modification of alpha thalassemia presumptively as a result of co-inheritance with deltabeta chain abnormality as suggested by the high Hb F level.
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PMID:Co-inheritance of compound heterozygous Hb Constant Spring and a single -alpha(3.7) gene deletion with heterozygous deltabeta thalassaemia: a diagnostic challenge. 2287 Jun

Neonatal hyperthyroidism is a rare disease that is seen in infants born to mothers with Graves' disease. Hepatic manifestation of neonatal hyperthyroidism is extremely rare. We describe a neonate with fulminant liver failure secondary to neonatal hyperthyroidism caused by maternal Graves's disease. The baby was admitted with low birth weight and hepatosplenomegaly. At day 2 of life, the baby was irritable and he developed respiratory distress and fulminant hepatic failure which required mechanical ventilation. All investigations of obstructive, infectious and metabolic causes of hepatic failure were negative. His hepatic dysfunction improvement was correlated with initiation carbimazole as anti-thyroid medication. The conjugated hyperbilirubinemia, liver enzymes and International Normalised Ratio (INR) were gradually improved with normalization by eight weeks. This case has been reported to illustrate lessons learnt for early identification of neonate with hyperthyroidism as potential cause of cholestasis is important, because delayed treatment of hyperthyroidism might lead to irreversible consequences such as mental retardation or even death due to liver failure.
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PMID:Neonatal Hyperthyroidism with Fulminant Liver Failure: A Case Report. 2857 Dec 23