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)

We describe 3 children with a progressive encephalopathy that was characterised by irritability, convulsions, cranial nerve palsies, ataxia, nystagmus, walking difficulties, delayed psychomotor development, hemiplegia/tetraplegia, visual disturbance, vomiting, neck stiffness, and non-specific signs of raised intracranial pressure. A final diagnosis was made in all 3 patients from necropsy material. The clinical features were ascribed to multiple inflammatory, predominantly lymphocytic, reactions and raised intracranial pressure. This condition is an atypical form of haemophagocytic lymphohistiocytosis, which normally presents with fever, hepatosplenomegaly, and cytopenias. By contrast, the disease pattern in our 3 children was dominated by cerebromeningeal involvement, which can precede the typical systemic symptoms of haemophagocytic lymphohistiocytosis. An awareness of this condition is important because treatments are available.
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PMID:Cerebromeningeal haemophagocytic lymphohistiocytosis. 134 23

We describe the clinical, pathological, ultrastructural and biochemical features in the case of a 15-year-old boy with multiple sulfatase deficiency. Clinical abnormalities included hypotonia, retarded psychomotor development, hepatosplenomegaly, pigmentary degeneration of the retina, myoclonic seizures, aortic insufficiency and quadriplegia. Urinalysis revealed increased heparan sulfate. At necropsy, aortic and mitral valves revealed nodular thickening and periodic acid-Schiff (PAS)-positive, metachromatic granules in renal proximal tubules. The brain weighed 400 g and demonstrated cerebral and cerebellar atrophy with a retrocerebellar meningeal cyst. Cortical neurons contained periodic acid-Schiff-positive and cresyl violet-reactive granules. White matter demonstrated brown metachromasia and intense fibrillary gliosis. Conjunctival fibroblasts contained amorphous vacuoles with dense osmiophilic nucleoid cores. Pleomorphic extracellular, intraneural and intraglial inclusions were noted in the brain. Activities of arylsulfatase A, B and C were diminished markedly in autopsied tissue from brain, liver, and kidney (0, 0 and less than 10% of control activities, respectively). Partial deficiencies of iduronate sulfatase and heparan sulfatase were noted in different tissues. Variable decreased enzyme activities were expressed in leukocytes: arylsulfatase A, less than 33%; B, 40%; and C, 90%; heparan sulfatase, 2%; and iduronate sulfatase was not detectable. Near normal activities were found in cultured fibroblasts.
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PMID:Multiple sulfatase deficiency: clinical, neuropathological, ultrastructural and biochemical studies. 169 40

Clinical details of 50 infants with congenital cytomegalovirus infection identified in a prospective study are reported. The mean birthweight, gestational age, and head circumference of children with congenital cytomegalovirus infection were not significantly different from those of controls. Three (6%) had symptoms at birth--two neurological and one pneumonitis. In the first four months of life transient hepatosplenomegaly occurred in two infected children and six suffered interstitial pneumonitis. Three congenitally infected children have major neurological handicaps including spastic quadriplegia, microcephaly, and psychomotor delay, and five (10%), including the one with quadriplegia, have sensorineural deafness which is bilateral in three (6%). Estimates based on these findings suggest that the impact of congenital cytomegalovirus infection is comparable to that of congenital rubella in the era before vaccination. Of the 42 children where the nature of maternal infection was classifiable, congenital infection followed primary maternal infection in 32 (76%) and recurrent infection in 10 (24%). Neurological defects followed exposure to primary maternal infection in all three trimesters of pregnancy and also recurrent maternal infection.
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PMID:Congenital cytomegalovirus infection. 609 25

During a four-week trip to Nigeria a 54-year-old German developed a fever of 39 degrees C. Later on he had lymphadenopathy, pretibial oedema, dyspnoea and weight loss. After 16 weeks a wreath-like pale pink skin rash, increased pulse rate with pulse deficit and hepatosplenomegaly were noted. Abnormal laboratory findings were an increased blood sedimentation rate (95 mm), raised immunoglobulin M (483 mg/dl), haemoglobin of 12.0 g/dl, mean corpuscular volume of 76 fl and Borrelia IgM antibody titre of 1:512. The electrocardiogram was suggestive of myocarditis: the cardiac symptoms were controlled with digoxin and verapamil. The patient's general condition deteriorated while he was receiving antibiotic treatment with tetracycline and penicillin. Cerebrospinal fluid (CSF) showed an increased cell count (39/microliters) and albumin (0.98 g/dl). There was a mild, predominantly proximal, tetraplegia which--on the basis of electromyographic and biopsy findings--was thought to be due to polyneuritis and myositis. At this stage blood smear and CSF examination revealed Trypanosoma. He thereupon received suramin (1.0 g) and prednisolone (120 mg down to 40 mg) daily, to which melarsoprol was added after 6 days (0.5 ml up to 5.0 ml daily for 36 days). Almost all symptoms then regressed within 6 weeks.
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PMID:[Polyneuritis and myositis in Trypanosoma gambiense infection]. 798 74

We report a 4-year-old Japanese girl with infantile sialic acid storage disease. She presented with failure to thrive, coarse facial features, hepatosplenomegaly, severe mental retardation and spastic quadriplegia. Electron microscopic examination of cultured skin fibroblasts revealed multiple vacuoles and inclusion material representing distended lysosomes, thus suggesting a lysosomal storage disorder. A high concentration of free sialic acid was present in the urine and cultured fibroblasts, but bound sialic acid was not increased. The activity of a variety of lysosomal enzymes was not diminished. The MRI findings included brain atrophy and a diffuse high signal in the cerebral white matter and low signal in the basal ganglia on T2-weighted images. To our knowledge, this is the first case of infantile sialic acid storage disease described in a non-Caucasian family.
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PMID:A Japanese case of infantile sialic acid storage disease. 873 11

Mucopolysaccharidoses (MPS) are recessive inheritable, progressive diseases of disordered degradation and storage of acid glucosaminoglycans. A five-year old child with psychomotor development retardation, which started at his age of two, was presented in our study. Clinical examination showed big head with rough facial features, skeleton deformities and hepatosplenomegaly. The diagnosis Dysostosis epifisealis multiplex was also confirmed by the X-ray examination of skeleton. Karyotype: 46, XY. Mental retardation: IQ--48. Clinically suspected mucopolysaccharidosis called for metabolic screening of first morning urine and the positive toluidine blue test result indicated the increased excretion of mucopolysaccharides. Further enzyme analyses of peripheral blood leucocytes confirmed the heparin sulphate sulphatase deficiency on the basis of which A (MPS III) Sanfilippo syndrome was defined. Our patient was born as a twin sibling. The other sibling is clinically healthy and of normal metabolic screening. It was not possible to define precisely the healthy heterozygote by testing the enzyme activities. A large number of mutations at various loci and big genetic heterogeneity of mucopolysaccharidoses made molecular diagnostics difficult. In the subsequent pregnancy, the mother was recommended prenatal diagnostics by enzyme analysis from the cultured chorionic villus. The prognosis of the presented patient is bad, the course of the disease is progressive and the patient can be expected to die in spastic tetraplegia in the second decade of life. The treatment is symptomatic for the time being.
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PMID:[Diagnostics of mucopolysaccharidoses presented through the case of Sanfilippo syndrome]. 1549 90