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 report on a 8-month-old boy with AIDS, born of an asymptomatic mother with positive HTLV-III serology. He was hospitalized in the Intensive Care Unit because of anemia, fever and hepatosplenomegaly. Chest X-ray showed pneumonia and subsequent blood cultures were positive for Candida albicans. After 3 days of Amphotericin B treatment, the patient was transferred to Infectious Disease Department. After 30 days of hospitalization, the patient developed a rapid neurological impairment evolving into coma. CT scan showed a round, ring-shaped low density lesion with hyperdense and enhancing haemorrhagic centre in the left basal ganglia and a smaller hypodense lesion on the right. There was also evidence of cortical atrophy and mild ventricular dilatation. Such lesions are more commonly described in children with AIDS and congenital cytomegalic inclusion virus (CMV) encephalitis. In this case toxoplasma cysts were shown microscopically reinforcing the contention that in patients with AIDS, toxoplasma gondii infection may occur with atypical manifestation.
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PMID:An unusual CT presentation of congenital cerebral toxoplasmosis in an 8 month-old boy with AIDS. 159 15

A guideline for early diagnosis of metabolic disorders affecting central nervous system during neonatal and early infancy was presented. Clinical manifestations associated with inborn errors of metabolism in the neonatal period are poor feeding, vomiting, diarrhea, abnormalities in muscle tonus, dyspnea, convulsion, coma and so on, and these are not specific to each disorder. However, such symptoms or signs as described below have often intimate relation to metabolic disorders: (1) previous children died of undetermined causes during early infancy; (2) complication of sepsis; (3) onset in the early neonatal period; (4) developmental and growth retardation. When newborns and infants have these symptoms or signs, we should start simple screening studies immediately for metabolic disorders, including CBC, hepatic function tests, blood glucose, lactate, pyruvate, ketone bodies, ammonia, blood gas analysis, urinalysis (including non-glucose reducing substance tests and FeCl3 reaction) and so on. As for CBC, we have to make our own effort to find spherocytosis and vacuoles in lymphocytes. Family history, especially the mother's personal history, is indispensable. During physical examinations, we must pay attention to facial appearance, skin color, macroglossia, hair abnormalities, peculiar odor of the urine and hepatosplenomegaly. When abnormality is found in these clinical signs or simple laboratory examinations, we should not hesitate to start dietary treatment even if special examinations for differential diagnosis are on the way.
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PMID:[CNS disorders caused by metabolic disorders]. 201 2

A 6-year-old girl with cerebral palsy developed conscious disturbance and generalized convulsion after one-hour hot herb drug bath. Physical examination on admission revealed rectal temperature 41 degrees C, hot skin, respiration 46/min, regular heart beat 98/min, BP 130/60 mmHg, Glascow coma scale 4 (E2M1V1), soft and flat abdomen, no hepatosplenomegaly, no skin rash, no focal neurological sign, increased generalized muscle ton. Laboratory data showed CBC: WBC 20400 cumm (Neutrophils 31%, Lymphocytes 69%), Hb 11.6gm%, ESR 11 mm/hr, arterial blood gas: PH 7.077, PO2 43mmHg, PCO2 57.1mmHg, HCO3- 16 mEq/L, BE-11.5mEq/L, serum sodium 143 mEq./L, potassium 5.2 mEq/L, chloride 101 mEq/L, free calcium ion 3.8mg%, GOT 63IU/L, GPT 263 IU/L, amylase 193 IU/L, alkaline phosphatase 388 IU/L, LDH 1245 IU/L, CPK 677 IU/L, total bilirubin 0.8 mg/dl, direct type 0.1 mg/dl, BUN 18 mg/dl, Glucose 35 mg/dl. Urinalysis revealed proteinuria( ) trace hematuria and pyuria, but no cast. Lumbar puncture is within normal limits. Bacteriology including blood and CSF are normal. Multiple organ failure was noted at that time. Intensive cooling methods were performed including central and peripheral cooling. We used luminal and valium to control the seizure. Condition didn't improve. Afterwards cardiopulmonary arrest developed. Patient expired 8 hours after admission despite of resuscitation. Heat stroke in infancy and childhood is different from that in adulthood. The predisposing factors are high ambient temperature, dehydration, very young baby, sweat gland dysfunction, or ectodermal dysplasia. Definition of heat stroke includes 1) rectal temperature above 41 degrees C, 2) behavioral change, 3) warm skin, wet or dry.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Status epilepticus induced by prolonged immersion in hot herb bath: report of one case]. 263 19

A 55-year-old man was admitted to our hospital with fever, ascites, generalized lymphadenopathy and hepatosplenomegaly. A cervical lymph node was biopsied and diagnosed as a diffuse mixed cell type B-cell malignant lymphoma with positive cytoplasmic IgM in plasmacytoid lymphocytes and immunoblasts. Serum protein electrophoresis disclosed a monoclonal peak and immuno-electrophoresis identified the abnormal protein as IgM kappa(k). Serum immunoquantitation revealed an IgM level of 1470 mg/dl. Bence-Jones protein of the k type was positive in the urine. Cryoglobulin with the characteristics of IgM was present in the serum. In peripheral blood, hemoglobin was 12.4 g/dl, WBC 26,500/microliters with increased abnormal cells and the platelet count 2.2 x 10(4)/microliters. Low fibrinogen and high FDP levels indicated the existence of disseminated intravascular coagulation (DIC). Gabexate mesilate (FOY) was administered at a dose of 1,000 mg/day for the DIC with very good response. After one course of combination chemotherapy (vincristine, cyclophosphamide, prednisolone, adriamycin), he achieved complete remission. However, three months later, he showed icterus and anorexia again with high levels of serum GOT and GPT and positive HBs antigen. On the 117th hospital day, he became abruptly developed right hemiplegia and coma. Cranial CT demonstrated massive thalamic bleeding in the left hemisphere with ventricular rupture, and he died on the same day.
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PMID:B-cell malignant lymphoma associated with monoclonal macroglobulinemia and cryoglobulinemia. 315 23

Evaluation of 446 infants and young children (6 months to 5 years olds) with malaria parasitaemia showed a significant relationship (P < 0.05- < 0.001) (a) between coma and age, pattern of convulsions, haematocrit, and blood glucose, and (b) between the severity of parasitaemia and risk of convulsions, prevalence of hepatosplenomegaly, and severe anaemia. No significant relationship was observed between convulsions and temperature or haematocrit. Comatose children were older and had a higher prevalence of repeated convulsions, severe anaemia, and hypoglycaemia than non-comatose children. Convulsions, hepatosplenomegaly, and severe anaemia were more prevalent in children with moderate-severe parasitaemia. It is concluded that convulsions with malaria are more often a manifestation of cerebral dysfunction rather than being simply febrile in nature. All forms of cerebral dysfunction in malaria, including repeated convulsions, should be managed as being clinical manifestations of cerebral malaria.
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PMID:Convulsions with malaria: febrile or indicative of cerebral involvement? 813 57

Of 4651 admissions between February 1995 and February 1996, 1043 had a presumed diagnosis of malaria. Six hundred and twenty-seven cases were confirmed by thick blood film examinations. The highest prevalence was in October (124/480 admissions) and the lowest in March (12/303). Sixty-five children died while 562 survived, 12 with defects. The first treatment in 422 children was chloroquine, in 143 quinine, in 59 halofantrin, and in three pyrimethamine with sulfadoxine (Fansidar). 23/422 patients started on chloroquine were switched to halofantrine, two to quinine. A higher mortality was associated with coma, convulsions, hepatosplenomegaly, pulmonary congestion, jaundice, haemoglobinuria, bladder paralysis, anuria. Anaemia and fever were more severe and hypoglycaemia more frequent in children who died than in children who survived (packed cell volume 18.5 +/- 7.1 per cent vs. 25.6 +/- 7.6 per cent, p < 0.001; temperature 39 +/- 1.1 degrees C vs. 38.7 +/- 0.9 degrees C, p < 0.05; random blood sugar < 40 mg/100 ml; 76 vs. 22 per cent, p < 0.01). There was no difference in the median age, pretreatment duration, and prevalence of diarrhoea and sickle cell disease. The male to female ratio was 1.5:1 in the surviving children vs. 1:1.03 in the dead.
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PMID:Malaria prevalence and outcome in the in-patients of the Paediatric Department of the State Specialists Hospital (SSH), Maiduguri, Nigeria. 960 1

Lysinuric protein intolerance (LPI, MIM 222700) is an autosomal recessive multisystem disorder found mainly in Finland and Italy. On a normal diet, LPI patients present poor feeding, vomiting, diarrhoea, episodes of hyperammoniaemic coma and failure to thrive. Hepatosplenomegaly, osteoporosis and a life-threatening pulmonary involvement (alveolar proteinosis) are also seen. LPI is caused by defective cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in kidney and intestine. Metabolic derangement is characterized by increased renal excretion of CAA, reduced CAA absorption from intestine and orotic aciduria. The gene causing LPI was assigned using linkage analysis to chromosome 14q11.2 near the T-cell receptor alpha/delta chains locus, and a critical region has been defined. We have identified two new transcripts (SLC7A8 and SLC7A7) homologous to amino acid transporters, highly expressed in kidney and mapping in the LPI critical region. Mutational analysis of both transcripts revealed that SLC7A7 (for solute carrier family 7, member 7) is mutated in LPI. In five Italian patients, we found either an insertion or deletion in the coding sequence, which provides evidence of a causative role of SLC7A7 in LPI. Furthermore, we detected a splice acceptor change resulting in a frameshift and premature translation termination in four unrelated Finnish patients. This mutation may represent the founder LPI allele in Finland.
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PMID:SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. 1008 Jan 83

A patient with AIDS and asymptomatic Chagas's disease and positive xenodiagnosis was taking ketoconazole in order to suppress parasitemia and prevent reactivation of Chagas's disease. Ketoconazole was unplanned suspended after 6 months, and the patient was admitted with fever, headache, vomiting, tachycardia, postural hypotension, hepatosplenomegaly, and positive xenodiagnosis one month later. Treatment with benzonidazole was begun leading to suppression of parasitemia. The patient had probability a neurotoxoplasmosis associated and progressed to coma and death with sepsis. No parasite was found in autopsy.
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PMID:[Reactivation of Trypanosoma cruzi infection in patients with acquired immunodeficiency syndrome]. 1038 May 69

This case report describes a brother and a sister with severe meningoencephalitis caused by Toscana virus (TOSv). The clinical presentation was characterized by stiff neck, deep coma, maculopapular rash, diffuse lymphadenopathy, hepatosplenomegaly, renal involvement, tendency to bleeding, and diffuse intravascular coagulation. The boy had epididymo-orchitis. Recovery with neurologic sequelae as hydrocephalus was observed. Microbiological diagnosis was obtained by serological tests and reverse transcriptase-polymerase chain reaction. Sequencing of polymerase chain reaction products from the S and M segments was carried out. TOSv may be a causative agent in severe meningoencephalitis.
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PMID:Unusual presentation of life-threatening Toscana virus meningoencephalitis. 1476 44

We describe a 3 year-old male who presented with fever and cerebellar dysfunction after varicella. He developed transient hepatosplenomegaly, cytopenias, and progressive central nervous system involvement (coma, status epilepticus, and hydrocephalus). Despite normal initial cranial computed tomographic scan, diffuse swelling of the cerebellum with downward tonsillar herniation ensued. Diagnosis of hemophagocytic lymphohistiocytosis was difficult and delayed because of the relapsing course, and complete diagnostic criteria were not fulfilled at initial presentation. Central nervous system disease preceded the typical clinical picture of this disease; it dominated the clinical course and caused life-threatening complications and sequelae. The patient improved after treatment, according to the hemophagocytic lymphohistiocytosis protocol (HLH-94) of the Histiocyte Society, with dexamethasone, etoposide, and cyclosporine and unrelated cord blood stem cell transplantation. A mutation in the perforin gene confirmed the diagnosis of familial hemophagocytic lymphohistiocytosis.
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PMID:Near fatal cerebellar swelling in familial hemophagocytic lymphohistiocytosis. 1516 42


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