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 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

Clinical and pathological findings are reported in a Japanese girl who died of secondary amyloidosis associated with juvenile rheumatoid arthritis two years after the onset of symptoms. The patient had intermittent high fever, rheumatoid rash, polyarthralgia, and hepatosplenomegaly. The joints showed the typical histologic changes of juvenile rheumatoid arthritis. Amyloid deposition was found in various tissues; however, remarkable deposition of amyloid was observed in the gastrointestinal tract, especially in the ileum. The amyloid protein in this patient was identified as protein AA using the methods of potassium permanganate treatment and the peroxidase-antiperoxidase unlabeled antibody technique.
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PMID:Amyloidosis associated with juvenile rheumatoid arthritis. 707 94

A 47 year old patient was admitted because of 20 kg weight loss and microcytic anaemia. There wasn't any important disease in his medical history. During examinations it has been found microcytic anaemia, hypoproteinaemia, low serum potassium, elevated prothrombin INR value, malabsorption and mild hepatosplenomegaly. After precluding the possibility of malignant disorders and any other chronic diseases, examinations have cleared Whipple-disease.
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PMID:[An unusual case of morbid weight loss]. 957 3

Niemann-Pick disease (types A and B), or acid sphingomyelinase deficiency, is an inherited deficiency of acid sphingomyelinase, resulting in intralysosomal accumulation of sphingomyelin in cells throughout the body, particularly within those of the reticuloendothelial system. These cellular changes result in hepatosplenomegaly and pulmonary infiltrates in humans. A knockout mouse model mimics many elements of human ASMD and is useful for studying disease histopathology. However, traditional formalin-fixation and paraffin embedding of ASMD tissues dissolves sphingomyelin, resulting in tissues with a foamy cell appearance, making quantitative analysis of the substrate difficult. To optimize substrate fixation and staining, a modified osmium tetroxide and potassium dichromate postfixation method was developed to preserve sphingomyelin in epon-araldite embedded tissue and pulmonary cytology specimens. After processing, semi-thin sections were incubated with tannic acid solution followed by staining with toluidine blue/borax. This modified method provides excellent preservation and staining contrast of sphingomyelin with other cell structures. The resulting high-resolution light microscopy sections permit digital quantification of sphingomyelin in light microscopic fields. A lysenin affinity stain for sphingomyelin was also developed for use on these semi-thin epon sections. Finally, ultrathin serial sections can be cut from these same tissue blocks and stained for ultrastructural examination by electron microscopy.
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PMID:Optimization of a histopathological biomarker for sphingomyelin accumulation in acid sphingomyelinase deficiency. 2261 61

A-14-year old boy, presented with a short history of excessive thirst and increased urine output. Clinical examination showed pallor, generalized lymphadenopathy and hepatosplenomegaly. For evaluation of his polyuric state he underwent routine laboratory investigations, including renal function test, acid-base studies, urine analysis. Blood tests suggested hypokalemia, hypouricemia, hypocalcemia and hyperchloremia with normal liver and kidney function tests. The arterial blood gas analysis was suggestive of normal anion gap metabolic acidosis. Urine analysis was suggestive of hyperuricosuria, hypercalciuria and glycosuria with a positive urine anion gap. His hemogram showed pancytopenia with differential count showing 88% blasts. Bone marrow examination and flowcytometry confirmed the diagnosis of B cell acute lymphoblastic leukemia. Hence this case was atypical and very interesting in the sense that the Fanconi syndrome is very rare to be an initial presenting feature of acute lymphoblastic leukemia. The patient was started on oral as well intravenous supplementation with potassium, bicarbonate, calcium and phosphorus. Simultaneously, as per the modified BFM -90 protocol (four drug based regimen-Prednisolone, vincristine, daunorubicin, cyclophosphamide along with l-asparaginase), he was started on induction protocol. By the end of 3rd week of induction therapy, his urine output started normalizing and finally settled at the end of induction therapy. At present he is in the maintenance phase of chemotherapy.
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PMID:Fanconi Syndrome: A Rare Initial Presentation of Acute Lymphoblastic Leukemia. 2740 43

Chronic lymphocytic leukemia (CLL) is characterized by excessive production of abnormal lymphocytes in the bone marrow. It usually presents as hepatosplenomegaly and lymphadenopathy along with constitutional symptoms of fever, tiredness, and weight loss. Pseudohyperkalemia may occur in patients with extreme leukocytosis. High serum and plasma potassium levels have been seen in pseudohyperkalemia. Whole blood potassium determination will usually help lead to a correct diagnosis. It is important to diagnose this condition early so that the patients are not inappropriately treated. We aim to highlight that hyperkalemia in CLL patients should only be treated if the patient is symptomatic or if the patient shows cardiac effects of hyperkalemia on electrocardiogram.
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PMID:Pseudohyperkalemia: To Treat or not to Treat. 3064 2