Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An unusual case of Niemann-Pick disease type C is reported. The disease was first manifested in utero with hepatomegaly and ascitis. At the age of 3 months, respiratory signs were noted due to diffuse alveolar and interstitial pneumonia. Both bronchoalveolar lavage and blood serologic studies revealed respiratory infection by respiratory syncitial virus and Chlamydia trachomatis. These concomitant infections delayed the diagnosis of Niemann-Pick disease which was finally made by the electronic microscopic studies of liver biopsy and bone marrow specimens. Type C was identified by biochemical characterization of lipid accumulation in hepatocytes and by lipid enzyme profiles obtained from cutaneous fibroblast cultures. The child died at the age of 6 months from respiratory failure. Post mortem examination of the lung showed the presence of numerous overloaded alveolar macrophages in the alveolar spaces and walls. The severity of the lung issue disease is unusual in type C Niemann-Pick disease, in which neurologic involvement is usually the main prognosis factor.
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PMID:[A fatal respiratory form of type C Niemann-Pick disease]. 236 71

A case of malignant histiocytosis in a two year old boy is reported. His main clinical features were fever, lymphadenopathy, hepatomegaly and splenomegaly. Lymph node biopsy showed a sinusoidal type of lymph node infiltration, histiocytes of malignant aspect and erythrophagocytosis. Liver infiltration with tumoral cells was demonstrated by needle biopsy. The clinical evolution was rapidly progressive and after six months of chemotherapy he died of intercurrent respiratory infection.
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PMID:[Malignant histiocytosis in children]. 248 97

Psittacosis, also referred to as ornithosis, is a disease primarily of birds, which may be transmitted to humans. Psittacosis is caused by Chlamydia psittaci, an obligate intracellular parasite found worldwide. Humans are infected with C. psittaci when the organism enters the blood stream, usually through inhalation of dried excrement from diseased birds or through wound contamination with infected avian secretions. C. psittaci replicates in the liver and spleen and infects the lung and other organs hematogenously.1 The clinical manifestations of human psittacosis range from a mild respiratory infection to a severe systemic illness.1,2 Symptoms are frequently described as flu-like with fever, headache, body aches, and dry or productive cough. Sore throat, chest pain, abdominal pain, vomiting, and diarrhea are variably present. Physical findings may include a pulse-temperature dissociation, localized lung crackles, hepatomegaly, splenomegaly, and a pale macular skin rash. Chest radiographs may demonstrate lesions that are atelectatic, patchy, miliary, nodular, or consolidated in one or both lungs. White cell counts, erythrocyte sedimentation rates, and liver function tests are usually normal. In severe illness, signs and symptoms of liver dysfunction, neurological impairment, and respiratory and renal failure may be present. Since 1879 when psittacosis was recognized as a disease entity, cases have been reported in North and South America, Europe, Asia, and Australia. However, reports of psittacosis in Africa have been rare. An Ethiopian group, studying community-acquired pneumonia, published what they claimed to be the first report of psittacosis in Africa in 1994.3 The report published here is believed to be the first documented case of human psittacosis in Egypt.
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PMID:Psittacosis in Egypt: A Case Study. 981 79

Dorfman-Chanarin syndrome is a rare, autosomal recessive inherited lipid storage disease with congenital ichthyotic erythroderma due to an acylglycerol recycling defect. It is characterized by accumulation of neutral lipids in different tissues. Liver, muscle, ear, eye, and central nervous system are generally involved, so we presented a patient with severe ichthyosis, lipid vacuoles in neutrophils, and multiorgan involvement including a very rare complication, renal involvement. A 7-month-old girl was presented with frequent respiratory infection, congenital ichthyotic erithroderma and suspicion for immune deficiency. On her physical examination hepatomegaly, developmental delay, palmar and plantar hyperkeratosis and increased deep tendon reflexes with clonus and high tonus were found. Laboratory investigations revealed elevation at transaminases levels, hypoalbuminemia, hypergammaglobulinemia, presence of autoantibodies and eosinophilia. Vacuolization in leukocytes confirmed Dorfman-Chanarin syndrome, whereas no mutation at RAG1-2 and ARTEMIS genes ruled-out immune deficient status of the patient. At the age of eight months the patient died from severe renal failure. Her necropsies demonstrated microvesicular lipid accumulation not only at the liver but also at the renal species. The variability of involvement of different systems in Dorfman-Chanarin syndrome is well described, however the renal findings has not been reported previously at the literature.
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PMID:Renal involvement as a rare complication of Dorfman-Chanarin syndrome: a case report. 1857 36

Cystic fibrosis (CF) is the most common lethal autosomal recessive disease in Caucasians, but rare in Asians. The mutations of cystic fibrosis transmembrane conductance regulator (CFTR) gene are responsible for CF. To date, less than 5 cases of CF have been reported and a few of them diagnosed based on the genotype of the CFTR gene in Korea. We encountered a 4-month-old Korean infant with CF and the diagnosis was confirmed by CFTR gene mutation analysis. The patient underwent surgical operation, due to meconium ileus at birth. He suffered by recurrent respiratory infections, failure to thrive, fatty liver with hepatomegaly, and cholestasis. The mutations of the CFTR gene were identified in the patient and his parents. The patient was a compound heterozygote with a nonsense mutation of c.263T>G, resulting in an amino acid change of p.Leu88X in exon 3. It was previously described in a Korean patient with CF. The other is a novel mutation; c.2089-2090insA mutation (p.Arg697LysfsX33) in exon 13. The mutation c.263T>G was inherited from his father, and the c.2089-2090insA mutation from his mother. Respiratory infection was recovered by supportive care, and cholestasis was improved slowly with sufficient feeding and supplementation of pancreatic exocrine enzymes. He is 19- month old now and shows catch-up growth. We report a novel CFTR mutation in a Korean infant with CF.
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PMID:Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis. 1895 5

Immunocytoma is a non-Hodgkin's indolent evolution B cell lymphoma. It accounts for approximately 1-3% of non-Hodgkin's limphomas and usually onsets in adults aged over 50 years old. It manifests as lymphadenopathy, splenomegaly, hepatomegaly and lymphcytosis in 15 -30% of cases and is rarely seen with pulmonary involvement. Monocloncal peaks of serum immunoglobulin often occur. These are IgM and rarely IgA. We present as an example a male patient aged 52 years old, with recurrent respiratory infections. Clinical work -up identified an immunocytoma IgA stage IV. Diagnosing an indolent lymphoma, we prophylactic polyspecific human immunoglobulin to treat the respiratory infection. Evidence of lymphoma progression leads us to prescribe combined cyclo- phosphamide (C), vincristine (V), prednisone (P) e rituximab (R) (CVP-R), which has obtained a partial response over two years.
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PMID:[Immunocytoma IgA. Case report]. 1914 95

Hepatitis A virus is a common cause of acute viral hepatitis in India, due to lack of clean water and sanitation. Usual presentations include gastroenteritis or a viral respiratory infection. Hepatitis A has a variety of extra-hepatic manifestations which, if failed to be recognized, evades diagnosis. A 28-year-old lady presented with pain abdomen for 1 week, fever with rashes for 1 day. Patient was febrile at the time of examination. Rash was maculopapular with irregular edges, tender. On examining abdomen, tenderness noted in right hypochondrium and epigastrium with hepatomegaly. Patient was then admitted. Working diagnosis was Viral hepatitis for evaluation. Hepatitis A serology was sent which came positive for Ig M. Patient was treated with IV fluids, bile acid sequestrants, IV PPI, IV and oral antibiotics, antihistamines and 3 doses of injection Vit K. Calamine lotion was also given for skin care. Patient improved symptomatically in 2 days and was discharged after 3 days of hospital stay. In our case, the maculopapular rash spreading to the whole body was the major presenting symptom. The presentation of Hepatitis A with rashes maybe seen in around 10% of patients with extrahepatic manifestations along with arthralgia. Differential diagnosis in this case should be erythema multiforme which is the most common maculopapular eruptive rash. Other viral hepatitis causing agents (Hepatitis B&E) have been documented to present with rashes. SLE and Kawasaki disease rarely present with fever with rash with nonspecific multisystemic involvement. Borrelia, Leptospira also have icterus in their presentations. Early diagnosis and management in this case prevented complication such as autoimmune hepatitis, pleural effusion, ascites acute kidney injury. This case presentation urges the need to consider Hepatitis A to be an important differential diagnosis of fever with rash especially in tropical/sub-tropical countries with poor sanitation.
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PMID:Hepatitis A: A refreshing perspective through a rare symptom in a teaching hospital in south India. 3310 63