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 17-year-old male was admitted to our hospital complaining of fever, headache and nausea. On physical examinations cervical and inguinal lymphadenopathy and hepatosplenomegaly were noted. Neurological examination revealed meningeal signs. Blood examination showed slightly increased lymphocytes and atypical lymphocytes (1-4%), increased ESR, CRP (2+), slightly elevated EBV VCA IgG (X20), and normal EBV VCA IgM (less than X 10). Initial pressure of CSF was 195mmH2O, cells 46/3mm3, protein 50mg/dl. Slowing of back ground activity of EEG such as theta and delta wave was noted. CT scan revealed normal. During the course EBV VCA IgG elevated to X160, EBV VCA IgM elevated to X20. Slight respiratory disturbance, photophobia, and dysosmia were noted. One month later, clinical symptoms and laboratory data improved, the patient was discharged. Forty days after the discharge, headache was excerbated and increased CSF protein (100mg/dl) and pleocytosis (33/3mm3) were noted. The patient was readmitted to the hospital. After 2 weeks in the hospital, symptoms were diminished and laboratory findings revealed normal. During 2 years before the third admission he was asymptomatic and could enjoy the college life. At age 19, he was admitted to our hospital complaining of fever, headache and nausea. Neurologically slight meningeal irritation was noted. Blood examination revealed 1% atypical lymphocytes. EBV VCA IgG was elevated (X320) and EBNA was X80. CSF protein was slightly increased (52mg/dl). During the clinical course CSF protein was elevated to 105mg/dl and cell count to 502/3mm3 (N: L = 27: 409, with 66 atypical lymphocytes). Persistent hiccup was noted. After 50 days CSF findings were improved and he was discharged.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of recurrent Epstein-Barr virus meningitis]. 254

Chediak-Higashi (C.H.S.) syndrome is a rare immunodeficiency, due to defective granulocyte activity. The syndrome is characterized by large inclusion bodies in the leukocytes, albinism, photophobia, nystagmus, and recurrent infections. Some patients develop hepatosplenomegaly, lymphadenopathy, pancytopenia and widespread organ infiltrates with mononucleated cells. This phase is called "accelerated (or lymphoma-like syndrome) phase". A 5 years old girl with C.H.S. in accelerated phase received initially medical treatment without improvement. A splenectomy was performed to remove the hypersplenism and the mechanical compression of the spleen on the gut. Few days after the splenectomy the fever and the pancytopenia disappeared. The pathological examination of the spleen showed multiple intraparenchymal abscesses. Unfortunately, six months after the operation, she died after an acute episode of pneumonia, with normal hematological pattern. The splenectomy may play a role in the "accelerated phase" of C.H.S., but new treatments (bone marrow transplantation) are necessary to remove the basic disease.
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PMID:[Role of splenectomy in Chediak-Higashi syndrome in its accelerated phase]. 383 24

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease, characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granulecontaining cells. The abnormal granules are readily seen in blood and marrow granulocytes. Other clinical features include silvery hair, photophobia, nystagmus and hepatosplenomegaly. However, the presence of abnormal giant intracytoplasmic granules in neutrophils and their precursors are diagnostic of CHS. Here, we present a series of five cases, out of which four presented in the accelerated phase. In all the five cases, the giant granules were noted predominantly in the cytoplasm of lymphocytes, which is a rare occurrence compared to those present in the granulocytes.
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PMID:Chediak-Higashi Syndrome: A Case Series from Karnataka, India. 2653 43