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)

Acne fulminans is a rare form of acne characterized by ulcerative nodules and associated with systemic complications. We report the case of a 17-year-old boy with cystic acne who experienced sudden onset of acne fulminans associated with fever, weight loss, hepatosplenomegaly, and erythema nodosum migrans. To the best of our knowledge, this is the first reported case of acne fulminans manifested by hepatomegaly and erythema nodosum migrans.
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PMID:Acne fulminans with hepatosplenomegaly and erythema nodosum migrans. 182 16

One hundred and twenty-five cases of biopsy proven sarcoidosis have been found during a prospective study since 1972 in Calcutta, Eastern India. The presentation, clinical course and radiological features are considerably different from those seen in the West. Elderly males over 40 years are more prone. Low grade fever, cough, dyspnoea, arthralgia are common symptoms while hepatosplenomegaly, hypercalcaemia, hypercalciuria and hyperglobulinaemia are frequent signs. Nearly 60% are MT negative (up to 100 TU). Serum angiotensin converting enzyme and high lymphocyte count in bronchoalveolar lavage fluid are usual findings in active disease. Chest X-ray usually shows mottled opacities or fibrosis in 60% cases. Clinico-radiological dissociation (i.e. remarkable dissociation between the alarming-looking chest X-ray and scanty physical signs and symptoms in chest) was a very remarkable feature in this series. Treatment with oral steroid or steroid aerosol with oxyphenbutazone and chloroquine give equally good results initially. However, most cases tend to relapse inspite of adequate initial treatment. The pattern of the disease is similar almost all over India with minor regional differences like more erythema nodosum and eye involvement in Chandigarh in the extreme north (which could also have been due to case selection). The pattern from Northern India (Delhi) and Western India is nearly similar to our figures.
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PMID:Sarcoidosis in India: a review of 125 biopsy-proven cases from eastern India. 234 18

Altogether 231 sarcoidosis patients were observed. Chest x-ray showed stage I in 116 patients, stage II in 111 patients. Corticosteroid therapy was provided to stage II patients only, with signs of alveolitis activity, for which assessment lung scintigraphy with 67Ga, investigation of bronchoalveolar rinse and determination of the blood angiotensin converting enzyme should be performed. Various extrapulmonary manifestations like hepatosplenomegaly, skin rash, cardiac arrhythmia and conduction disorder, urinary syndrome, etc., were revealed in 28 patients. The authors discussed variants of a course of lesions of the internal organs in sarcoidosis, difficulties of their diagnosis, and indications for steroid therapy. They also recommend a further study of the extrathoracic manifestations of sarcoidosis which frequently determine prognosis of this disease (first of all, cardiac, renal and nervous system affections), serve indicators of its activity (erythema nodosum, uveitis, parotitis, etc.) and present considerable diagnostic difficulties.
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PMID:[Diagnostic and treatment problems in sarcoidosis in the therapist's practice]. 322 36

A case of lepromatous leprosy with erythema nodosum leprosum (ENL) presenting as a myeloid leukemoid reaction is reported. Very high leucocyte count with immaturity of the cells in myeloid series was present in peripheral blood. High leucocyte alkaline phosphatase score, absence of hepatosplenomegaly and transient nature of leukemoid reaction differentiated it from chronic myeloid leukemia and acute myeloblastic leukemia. The possible mechanisms of leukemoid reaction in ENL are discussed.
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PMID:Leukemoid reaction in erythema nodosum leprosum in a leprosy patient. 325 36

Diagnosis of tuberculosis (TB) in children is usually based on presumptions from several elements: clinical picture and course, x-rays, tuberculin test, and culture of pathology later on. TB is usually found in a child because of symptoms of primary disease, or through case-finding of a contact. TB is children is often a primary infection and may be gradual or acute in onset. Some of the symptoms of primary TB are low-grade fever, pallor, fatigue, and anorexia. The child may have erythema nodosum, a yellow module on the conjunctiva, hilar or mediastinal lymphadenopathy, a primary TB complex on the lung (3-10 mm), segmental density, or a positive PPD test. Children with pulmonary disease do not have adult-type cavity lesions, but may have a primary cavity that drains into the bronchi, mechanical complications, fistulas, or atelectasis. Acute TB often appears as meningitis. The pathognomonic signs are cerebrospinal fluid high in lymphocytes with very high albumin (0.6-2 g) and low glucose (0.4-0.2 g/l). TB organisms are rarely seen, but may be cultured. TB meningitis is also notable for choroidal tubercles, which are yellow nodules visible in the fundus. These presumptive signs, as well as increasing neurological findings, prompt immediate treatment. Children also may have acute miliary TB, marked by high fever, gastrointestinal symptoms, hepatosplenomegaly, dyspnea, cyanosis, and respiratory distress, with characteristic diffuse grainy spots on the chest x-ray. A child may have both conditions and may also have localized TB infection elsewhere. Thus, clinical findings may point to possible cultures of urine, gastric lavage, pleural fluid or biopsy, pericardial fluid, bone marrow, or ascitic fluid, any of which should be cultured to rule out other causes. The most common sites for extra-pulmonary TB are cervical nodes, spine, knee. shoulder, hip and peritoneum. Pelvic and urinary tract infections are rare in children.
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PMID:Diagnosis of tuberculosis in children. 1234 39

A 31-year-old man with Crohn's disease developed arthritis, spiking fever, and skin rash indistinguishable from that of adult-onset Still's disease. He was admitted to our hospital because of a periumbilical intestinal skin fistula. Crohn's disease had been diagnosed in 1991, and had required intestinal resection twice, and schizophrenia had been diagnosed in 1993. He developed polyarthritis and spiking fever, accompanied by a macular skin rash on both forearms. Marked hepatosplenomegaly and bilateral pleural effusion were detected on computed tomography examination. These findings are indistinguishable from those of adult-onset Still's disease. Because his mental status had deteriorated following high-dose prednisolone on a previous admission, he was treated with an immunosuppressive agent on this occasion, with the treatment being successful. This is the first report of adult-onset Still's disease complicating Crohn's disease. In patients with Crohn's disease, polyarthritis and skin rash can easily be misdiagnosed as enteropathic arthritis with erythema nodosum associated with the Crohn's disease. Although adult-onset Still's disease may not be fatal, early diagnosis is important because it can, in rare cases, result in life-threatening complications.
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PMID:Crohn's disease complicated by adult-onset Still's disease. 1456 35

Amoebiasis, a common parasitic infection in the tropics is most commonly associated with solitary liver abscess. Multiple hepatic, splenic and renal abscesses are a very rare presentation of extraintestinal amoebiasis in children. The authors report a 6-y-old girl who presented with a febrile illness, hepatosplenomegaly and erythema nodosum and was diagnosed to have multiple amoebic abscesses by imaging and aspiration cytology of a liver abscess. This is also the first case report of the association of erythema nodosum with extraintestinal amoebiasis in children.
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PMID:Multiple amoebic abscesses with erythema nodosum. 2183 20

Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The elder brother presented with a purely neurological picture, whereas the younger one presented with fever, pancytopenia, hepatosplenomegaly, and erythema nodosum. Considering that cutaneous hypopigmentation was a common feature between the brothers, genetic analysis for Griscelli syndrome was performed. As the elder sibling had died, mutation analysis was only performed on the younger sibling, which revealed a novel homozygous mutation in the RAB27A gene on chromosome 15 showing a single-base substitution (c.136T>A p.F46I). Both parents were heterozygous for the same mutation. This confirmed the diagnosis of GS2 in the accelerated phase in both siblings. The atypical features of GS2 in these cases are a novel mutation, isolated neurological involvement in one sibling, association with erythema nodosum, and 2 distinct clinical presentations in siblings with the same genetic mutation.
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PMID:Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum. 2467 34

35 cases of Kala-Azar were managed at 200 bedded peripheral hospital, Bihar from Jan 1994 to Jan 1998. Patients presenting with history of fever for more than 3 weeks duration with splenomegaly or hepatosplenomegaly were investigated for Kala-Azar. A confirmative diagnosis of Kala-Azar was made in all cases by demonstrating Leishmania amastigote (LD body) in bone marrow or splenic aspirate. All patients were initially treated by sodium stibogluconate (SSG) 20 mg/kg body wt daily for 20 to 40 days depending on response. SSG induced cardiac toxicity was seen in 6 cases (VT-2, ST-T changes-2, QTc Prolongation-2) out of which 1 patient died of refractory ventricular tachyacarida. 9 patients were unresponsive to SSG,8 patients were treated with pentamidine isoethionate (4 mg/kg body wt IV alternate day) 10-15 dosage. 1 patient was treated with amphotericin-B. All the patients showed clinical and parasitological improvement and no relapse was noted at 6 month follow up. 6 patients had associated tuberculosis (Disseminated TB-2, Miliary TB-1, Pulmonary TB-1. Pleural TB-2). 2 patients had associated pneumonia, 1 patient had HIV infection and 1 patient had erythema nodosum leperosum.
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PMID:PROBLEMS IN MANAGEMENT OF KALA AZAR: EXPERIENCE FROM BIHAR. 2740 12

A young adult man with 4-years history of lepromatous leprosy (received irregularly multidrug therapy) presented with two and half years history of symptoms suggestive of chronic erythema nodosum leprosum (ENL), initially responded to steroids and thalidomide, but later on failed. During the last 2-months, he developed fever, vomiting, and subsequently altered sensorium. On evaluation, he had hepatosplenomegaly, hyponatremia, hyperferritinemia, hemophagocytosis in bone marrow aspiration, lobular panniculitis in skin biopsy, and multiple parenchymal nodules in chest imaging. Hence diagnosis of ENL with hemophagocytic lymphohistiocytic (HLH) syndrome was established and treatment with dexamethasone (10 mg/m2) started. During hospitalization, he developed sinus bradycardia, QT prolongations, recurrent ventricular tachycardia, and moderate systolic dysfunction. The cardiac complications recovered using a temporary pacemaker and were presumed to be due to micronodular cardiac deposition of ENL. This case iterates that ENL can present with varied presentations like asymptomatic lung nodules and storming cardiac complications. More importantly leprosy, ENL, and HLH are a continuum of manifestations of the same agent-host interactions.
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PMID:A case of leprosy, erythema nodosum leprosum, and hemophagocytic syndrome: A continuum of manifestations of same agent-host interactions. 2894 49


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