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

A 1-3/12-year-old Turkish boy born of consanguineous parents was hospitalized in poor general condition with disorientation, hepatosplenomegaly, and rickets. Laboratory tests showed pronounced symptoms of hepatic dysfunction, rickets, and Fanconi's syndrome with acidosis. The diagnosis juvenile type I tyrosinemia was based on the anamnesis, hepatorenal symptoms, and elevated tyrosine and methionine blood levels as well as the pathognomic findings of heavy succinylacetonuria and absent fumarylacetoacetase activity in the fibroblasts. Etiology, pathobiochemistry, clinical symptoms, differential diagnosis, and therapy of this rare autosomal-recessive inherited metabolic disease were discussed.
 ...
PMID:[Juvenile form of tyrosinemia type I]. 260 Dec 81

Pycnodysostosis is a rare bone disease. Visceral manifestations associated with anemia and/or rickets have been reported in pycnodysostosis. Five children with typical findings of pycnodysostosis with hepatosplenomegaly, anemia with rickets, one with visceromegaly and anemia, and another with rickets alone are reported here. These findings strongly suggest that extramedullary erythropoiesis does occur in pycnodysostosis.
 ...
PMID:Pycnodysostosis with visceral manifestation and rickets. 373 72

An 18-month-old infant presented with hypotonia, motor delay, hepatosplenomegaly, rickets and steatorrhoea. Biochemical investigations revealed typical features of Niemann-Pick disease type C. In addition, there was evidence of defective peroxisomal beta-oxidation of branched-chain substrates (3 alpha, 7 alpha, 12 alpha-trihydroxycholestanoic acid and pristanic acid). The steatorrhoea and fat-soluble vitamin malabsorption responded well to bile acid therapy. Possible causes for the double defect are considered.
 ...
PMID:Niemann-Pick disease type C and defective peroxisomal beta-oxidation of branched-chain substrates. 958 66

Deficiency of 3beta-hydroxy-delta5-C27-steroid dehydrogenase (3beta-HSDH), the enzyme that catalyses the second reaction in the principal pathway for the synthesis of bile acids, has been reported to present with prolonged neonatal jaundice with the biopsy features of neonatal hepatitis. It has also been shown to present between the ages of 4 and 46 months with jaundice, hepatosplenomegaly, and steatorrhoea (a clinical picture resembling progressive familial intrahepatic cholestasis). This paper reports two children with 3beta-HSDH deficiency who developed rickets during infancy and did not develop clinically evident liver disease until the age of 3 years. Bile acid replacement resulted in considerable clinical and biochemical improvement. The importance of thorough investigation of fat soluble vitamin deficiencies in infancy is emphasised.
 ...
PMID:An inborn error of bile acid synthesis (3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets. 1020 55

Niemann-Pick disease, type C, was diagnosed in a 3-month-old boy with hepatosplenomegaly, mild signs of cholestasis, hepatic inflammation and extramedullary erythropoiesis, together with chronic airway disease. He developed muscular hypotonia, psychomotor retardation, rickets, and signs of peripheral neuropathy. The patient was found to excrete abnormal amounts of unusual bile acids in urine at 3 and 5 months of age. These acids were shown to have a 3beta-hydroxy-Delta(5) structure and to carry an oxo or hydroxy group at C-7. They were sulfated at C-3 and nonamidated or conjugated with glycine or taurine at C-24. Part of the 7-hydroxy acids, presumably the 7beta-hydroxylated one, was also conjugated with N-acetylhexosamine, probably N-acetylglucosamine, at the 7-hydroxy group. Possible metabolic pathways for the formation of the 7-oxo and 7beta-hydroxycholenoic acids are discussed. Based on previous data concerning the effects of 3beta-hydroxy-Delta(5) bile acids on bile acid transport, it is suggested that the formation of such bile acids is responsible for the cholestasis in this patient.
 ...
PMID:Identification of unusual 7-oxygenated bile acid sulfates in a patient with Niemann-Pick disease, type C. 1159 Feb 12

Anemia and hepatosplenomegaly are common reasons for referring a child to a pediatric hematologist or oncologist. Among the many causes for these findings is severe rickets, which has been shown to be associated with secondary myelofibrosis and myeloid metaplasia. The authors present the case of an infant with severe rickets and secondary myelofibrosis and review the differential diagnosis of hepatosplenomegaly from the viewpoint of the pediatric hematologist/oncologist.
 ...
PMID:Anemia and hepatosplenomegaly as presenting features in a child with rickets and secondary myelofibrosis. 1452 7

Four Thai infants, aged between 4 and 23 months, had progressive abdominal distension, pallor and delayed or regressed developmental milestones, with age at onset of 1 month, 3 months, 4 months and 1 month, respectively. Clinical findings consisted of growth and developmental retardation, anemia, frontal bossing, marked hepatosplenomegaly, and hearing and visual impairment. Laboratory findings revealed moderate anemia, leukocytosis and thrombocytopenia. The radiographic findings comprised generalized sclerosis of all bones, including the cranial base, and obliteration of the medullary canals and trabecular patterns. The first and second patients, who had swelling of the wrist joints and prominent costochondral junctions, had hypophosphatemia, elevated levels of serum alkaline phosphatase, and metaphyseal flaring on their radiographs, which was consistent with infantile osteopetrosis complicated by rickets. After Stoss therapy, there were biochemical and radiological responses suggesting vitamin D deficiency in the first patient, but not in the second. The third patient, who had hypocalcemia, hypophosphatemia and normal levels of serum alkaline phosphatase, received vitamin D at 3000 units per day, without improvement. Despite frequent blood transfusions, all patients continued to deteriorate and were finally lost to follow-up. Rickets should be identified and treated at the onset, because treatment of rickets leads to improvement in well-being and an adequate clinical response to bone marrow transplantation.
 ...
PMID:Infantile osteopetrosis in four Thai infants. 1552 26

We describe the clinical course of a 10-month-old breastfed infant with rickets and associated myelofibrosis presenting with anemia and hepatosplenomegaly. Over the follow up, on therapeutic supplementation of vitamin D, child showed reduction in liver and spleen size along with improvement in rickets, anemia, growth and developmental parameters.
 ...
PMID:Nutritional rickets presenting with myelofibrosis. 2088 34

Malignant osteopetrosis is a rare autosomal recessive bone disease usually present with short stature, severe anemia, thrombocytopenia, hepatosplenomegaly, and macrocephaly. Here we report a rare case of malignant osteopetrosis presented with evidence of short stature, anemia, thrombocytopenia, hepatosplenomegaly, rickets, aqueductal stenosis, and hydrocephalus with resultant optic atrophy.
 ...
PMID:Aqueductal stenosis with optic atrophy in case of malignant osteopetrosis. 2234 42

Malignant Infantile Osteopetrosis (MIOP) is a rare genetic disorder due to osteoclast abnormal activity. We report a thirteen month-old male patient, diagnosed as MIOP while investigating the cause of hepatosplenomegaly associated with hydrocephalus. His medical history revealed non consanguineous parents and one brother's death at the same age of unknown etiology (similar symptoms). Systemic examination showed hepatosplenomegaly, growth failure, developmental milestones delay, and rickets features. Ophthalmic exam yielded bilateral optic atrophy. Skeleton radiographs detected generalized dense bone and rickets. Cerebral CT scan revealed hydrocephalus. Histological examination showed hypoplastic bone marrow and extra-medullary hematopoeisis. Diagnosis was confirmed by genetic testing that showed two heterozygote mutations within the TCIRG1 gene. The patient received supportive treatment. He died from an acute respiratory distress. MIOP should be kept in mind as a rare cause of hepatosplenomegaly. Early diagnosis and timely Hematopoietic stem cell transplantation are the only curative approach for an otherwise fatal disease.
...
PMID:Malignant infantile osteopetrosis: case report with review of literature. 2501 13


1 2 Next >>