Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Twenty infants and young children with hereditary fructose intolerance (HFI) were admitted to hospital. None was diagnosed at admission. Referals were for vomiting of unknown aetiology (16X), pyloric stenosis or hiatus hernia (5X), toxic condition (3X), and hepatomegaly of unknown origin (5X). Feeding difficulties (20X), vomiting (18X), and failure to thrive (16X) were leading symptoms. The most frequent clinical findings were hepatomegaly (18X), pallor (14X), haemorrhages (13X). Ascites, oliguria, tachypnoea, fever, splenomegaly and rickets were less frequent. Laboratory findings were indicative of disturbed hepatic and renal tubular function and also of disturbed intermediary metabolism (hypokaliaemia, hypophosphataemia). However, hypoglycaemia was found in only 4 out of 15 patients tested. Differential diagnosis after hospital admission centered on metabolic disorders such as glycogenoses, galactosaemia, tyrosinosis, or Wilson's disease. Hepatitis, toxic hepatosis, liver tumour, intrauterine infection and sepsis were also considered. Eleven children had first ingested fructose within the first 6 weeks of life. The diagnosis was usually established only many weeks or months after first fructose intake and appearance of symptoms. This documents how difficult the diagnosis of this disease can be both in practice and in hospital. The course was severe in 11 children and lethal in 4. In only 5 patients was the course mild. The 16 survivors are doing well under fructose-exclusion diet. Irreversible visual impairment after intraocular haemorrhage occurred once. In each case HFI could have been suspected immediately, had a detailed nutritional history been taken. Practising paediatricians should know the composition of commonly used infant formulae. They should never prescribe sugared condensed milk for intractable vomiting prior to excluding HFI. Solution for intravenous infusion containing fructose and sorbitol are life-threatening for undiagnosed HFI patients.
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PMID:Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic cases. 73

The literature contains about 500 cases of equine leucosis, though the reports are deposited in a great number of journals and vary considerably concerning particular topics. During the last years there has been a remarkable increase of publications about this syndrome in the equine. The clinical leucosis key recommended by us has been confirmed in principle considering the latest literature. In about 70 individual symptoms which can be clinically observed in equine with leucosis 11 can be considered as main symptoms because of their frequency; they are again classified in primary (lymph node tumours including splenomegaly--loss of condition, weakness--cachexia, weight loss, periphery oedema), secondary (anorexia, inappetence--fever--paleness of mucous membrane--anaemia--tachycardia) and accessory (incoordination--tachypnoea, dyspnoea--apathy, lethargy) main symptoms. Furthermore in future it will be necessary to take into more consideration the symptoms "recurrent colic" and "hydrothorax" within differential diagnosis. The main symptom "incoordination" (ataxia, asynergy, paresis, paralysis) is used by us more precisely only in case of impairment of nervous system by neoplastic infiltrations and does not signify as possible symptoms of general physical weakness, for example faltering, staggering, tumbling or lameness. The morphological classification follows further on our previous recommendation. There exist generalized forms with tumour infiltrations in abdominal and in thoracic cavity as well as especially in peripheral lymph nodes. On the other hand there are characteristic manifestations in certain regions of the body, which establish distinctly the clinical symptomatology. They are marked as regional multicentric forms with the main localizations "mediastinal", "splenic", "mesenteric" or "intestinal".(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Clinical diagnostic keys and special manifestations in equine leukosis]. 195 30

Acute intrinsic renal failure was diagnosed in a two-year-old, male, German shepherd dog following a Vipera aspis bite. Clinical signs included depression, hypersalivation, vomiting, tachypnoea, abdominal pain, splenomegaly, oliguria with haematuria and haemolysed serum. Leucocytosis with a shift to the left, thrombocytopenia, prolonged coagulation times (activated partial thromboplastin time, prothrombin time and thrombin time), hypofibrinogenaemia, azotaemia and hyposthenuria were the most prominent laboratory abnormalities. Histopathological evaluation of the kidneys showed a discrete glomerular hypercellularity, mesangial lysis and renal tubules filled with many hyaline casts and some necrotic cells.
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PMID:Acute intrinsic renal failure and blood coagulation disorders after a snakebite in a dog. 747 66

In a prospective study, we investigated whether human immunodeficiency virus (HIV) infection alters the clinical presentation in patients with tuberculous pleuritis. One hundred twelve of 118 patients who presented with pleural effusion suffered from tuberculosis (TB); 65 patients (58%) were HIV seropositive. Evidence of disseminated TB was found more often in HIV-positive than in HIV-negative patients (30.8% vs 10.6%, p < 0.02). Dyspnea, fever, night sweat, fatigue, and diarrhea, severe tachypnea, hepatomegaly, splenomegaly, and lymphadenopathy were significantly more common in HIV-infected than in HIV-negative patients with TB. The same applied to a negative Mantoux reaction, lower hemoglobin, higher beta 2-microglobulin values, and in pleural fluid, lower albumin and higher gamma-globulin levels. Among HIV-infected patients, PPD skin test anergy was significantly associated with relative low albumin and gamma-globulin levels of pleural fluid. However, the radiographic features did not differ with respect to HIV status; they were predominantly those of primary pleuritis (78% in each group). We conclude that coexisting HIV infection affects clinical and laboratory features, but not the radiographic presentation of patients with TB pleuritis in Tanzania.
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PMID:Clinical features of HIV-seropositive and HIV-seronegative patients with tuberculous pleural effusion in Dar es Salaam, Tanzania. 795 5

The clinical and radiological features in 38 infants less than 3 months of age with tuberculosis proved by culture are described and may aid early diagnosis of this often fatal condition. Respiratory symptoms, cough in 33 (87%) and tachypnoea in 31 (82%), were the commonest presenting symptoms. Twenty five infants (66%) had hepatomegaly and 20 (53%) splenomegaly. Mantoux testing gave an induration of > 15 mm in three of 17 (18%) infants. In a further five a Tine test gave confluent response. Chest radiography in 27 infants showed miliary tuberculosis in seven (26%) and hilar or paratracheal adenopathy in 14 (52%) and 10 (37%) respectively. Compression of either the bronchi or trachea or both was noted in 15 (56%). Detection of this complication was aided by high kilovolt radiographs. A culture of Mycobacterium tuberculosis was obtained from gastric aspirate in 35 (92%) infants, but positive cultures were also obtained from cerebrospinal fluid, tracheal or bronchial aspirate and liver and lymph node biopsy. Of 30 mothers evaluated seven (23) had previously unsuspected pulmonary tuberculosis.
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PMID:Tuberculosis in infants less than 3 months of age. 821 48

32 cases (21 acute severe malaria and 11 chronic malaria syndrome), who developed unusual complications and/or manifestations are reported. The acute manifestations were unexplained tachypnoea 4, pulmonary oedema 5 and shock due to multiple organ dysfunction syndrome 3, melena 2 and E coli septicaemia in one. The other features were concomitant salmonellosis 2, meningitis 1, renal failure 3, hepatorenal syndrome 2, hepatitis like illness 7, neck stiffness with normal CSF 3, urticaria and subconiunctival haemorrhage 2 each, apyrexial spell with anaemia 4, thromocytopenia 3, and hypoglycaemia 3 (two pretreatment and one while on quinine in 5% glucose drip). The chronic syndrome noted were hyperreactive malaria syndrome (Tropical splenomegaly) 3, repeated haemolysis 2, chronic simple malaria with positive parasitaemia and normal Igm levels 4, and cerebellar ataxia with tremors 3. Bone marrow in these cases was hypercullular with increase plasma cells. Liver biopsy revealed lymphocytic infiltration. There was no case with permanent neurogical deficit. All patients with pulmonary oedema and multiple organ dysfunction died but chronic syndrome patients recovered fully. Early recoginition of atypical manifestation and prompt treatment will decrease the mortality and morbidity due to malaria.
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PMID:Unusual acute and chronic complications of malaria. 928 1

Lymphomatoid granulomatosis, a rare condition in children, affects the lungs primarily but may have significant extrapulmonary manifestations, especially in the central nervous system. We report a case of lymphomatoid granulomatosis with onset after the completion of chemotherapy for childhood acute lymphoblastic leukemia. Two months after treatment ended, the 7-year-old girl developed splenomegaly, cervical adenopathy, and bilateral interstitial pulmonary infiltrates. She improved on cefotaxime but experienced a seizure 1 month later. A computed tomography scan of the head was normal, but her pulmonary infiltrates had become nodular. A computed tomography-guided biopsy of 1 of the nodules revealed cellular interstitial pneumonitis. One month later, she had persistent pulmonary infiltrates, marked splenomegaly, and new seizures. Magnetic resonance imaging of the head revealed cerebral nodules. Itraconazole was begun, and the pulmonary infiltrates resolved. Five months after her initial symptoms, she developed tonic pupil and a decreased level of consciousness. Dexamethasone was initiated. Needle biopsies of the brain were carried out, yielding the diagnosis of severe chronic inflammatory changes focally consistent with granuloma. The child redeveloped splenomegaly and fever, and then suffered an acute decompensation with hypoxemia, tachypnea, splenomegaly, and cardiac gallop. Open-lung biopsy revealed lymphomatoid granulomatosis. Lymphoma-directed therapy was initiated, and the patient had complete resolution of pulmonary and cerebral nodules 5 months later. No intrathecal chemotherapy was administered, and radiation therapy was not necessary. Neuropsychological testing obtained after completion of therapy revealed an improvement in attention, coordination, and fine motor speed over time. She is now in good health and attending school.
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PMID:Lymphomatoid granulomatosis after childhood acute lymphoblastic leukemia: report of effective therapy. 1133 32

Forty-six cats with clinical haemobartonellosis were studied; 75 per cent of the cats of known age were two-and-a-half years old or younger, 50 per cent were intact males and 19.5 per cent were castrated males. The predominant signs of the disease were tachypnoea, lethargy, depression, anorexia, infestation with fleas, pale mucous membranes, icterus, emaciation, dehydration, splenomegaly, anaemia, leucocytosis, increased activities of alanine aminotransferase and aspartate aminotransferase, and azotaemia. Thirty-eight per cent of the cats that were tested for feline leukaemia virus (FeLV) antigen were positive, and 22 per cent of those tested for feline immunodeficiency virus (FIV) antibodies were positive. The prevalence of both FeLV and FIV was much higher than in the general Israeli cat population. The cats infected with both Haemobartonella felis and FeLV had a significantly lower body temperature, were more anaemic and the mean cell volume of their erythrocytes was greater than in the cats with haemobartonellosis alone.
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PMID:Retrospective study of 46 cases of feline haemobartonellosis in Israel and their relationships with FeLV and FIV infections. 1216 25

We studied 73 Thai children with scrub typhus (median age 9 years, range 3-14 years, male:female ratio 1.8:1). Most patients (86%) lived in rural areas. They presented with subacute fever (median, 9 d) with vomiting (35%), hepatomegaly (59%), splenomegaly (18%), and tachypnea (26%). Skin rash (7%), eschar (7%), and history of mite bite were rare. Blood leucocyte counts were usually normal but 19% of patients were thrombocytopenic. Twenty (22%) patients had pneumonia and six (8%) had neurological involvement. Defervescence occurred a median of 1 d and 3 d after initiation of doxycycline and chloramphenicol, respectively, and these responses were more rapid than in those who received other antibiotics or no treatment (P < 0.001). There was one death. Only 55% of the patients were initially diagnosed as having scrub typhus.
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PMID:Paediatric scrub typhus in Thailand: a study of 73 confirmed cases. 1509 91

20 children, diagnosed with scrub typhus who attended Chiang Rai Regional Hospital during a period of 6 months from June 2003 to December 2003, were studied prospectively. All cases were serologically proved to be scrub typhus by using Dipstick or indirect immunofluorescent antibody (IFA) technique. The most common clinical feature was eschar (75%). Others included hepatomegaly (65%), cough (60%), lymphadenopathy (40%), tachypnea (35%), constipation (25%), abdominal pain (20%), edema (20%), splenomegaly (15%), vomiting (15%), rash (15%) and petichia (5%) respectively. Chest radiography showed abnormalities in 85% with mostly bilateral interstitial infiltrations. Elevated of SGOT: SGPT were detected in 18 (90%) and 15 (75%) cases. Hypoalbuminemia was detected in 12 (60%) cases. Complete blood count showed PMN leukocytosis (> 60%) in 12 (60%) cases, lymphocytosis (> 40%) and atypical lymphocytosis (> 5%) in 1 (5%) case each and thrombocytopenia in 16 (80%) cases. The Weil-Felix test was positive in 1 (5%) case. Complications were pneumonia with or without pulmonary edema, meningitis and shock. Chloramphenicol and doxycycline were successfully treated and roxithromycin was not effective.
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PMID:Clinical study of 20 children with scrub typhus at Chiang Rai Regional Hospital. 1651 87


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