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)

This work is a retrospective study of 50 cases of DHX, collected over a period of 27 years. 24 children died, 26 are still alive. The prognosis for DHX was neither dependent on age (usually occurring in children under 2 years) nor on histological findings but on the extent of the lesions. It was possible to establish a clinical staging system distinguishing 2 groups. One, where the disease was severe and almost always fatal, often included the combined symptoms of thrombocytopenia, spontaneous anemia, jaundice, hepatosplenomegaly, respiratory insufficiency and absence of osteolytic lesions. The other, with a favorable prognosis, was characterized by skin lesions, diabetes insipidus, exclusively radiological pulmonary involvement and multiple bone lesions. In cases where death did not occur, DHX was often chronic, frequently persisting for 2 years or more and leading to serious sequelae such as diabetes insipidus, growth stunting, intellectual retardation, blindness or deafness.
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PMID:Disseminated histiocytosis X: analysis of prognostic factors based on a retrospective study of 50 cases. 31 67

We studied two children who died of suspected familial erythrophagic lymphohistiocytosis. The first child, a 7-year-old boy, had fever, diffuse pulmonary infiltrates, bilateral choroidal effusions, diabetes insipidus, and marked meningitis with increased cerebrospinal fluid protein. Ocular histologic studies disclosed diffuse choroidal infiltrates consisting of atypical mononuclear cells with foamy cytoplasm. Similar histologic changes were seen in the lungs, liver, brain, and kidneys. The second child, the 5-year-old male cousin of Patient 1, had fever, hepatosplenomegaly, pulmonary infiltrates, and cerebrospinal fluid pleocytosis. Histologic changes were similar to those in the first case, but viral particles of the herpes simplex virus group were noted in brain tissue as well. The findings of virus particles in this histiocytic proliferative disease suggested a defect in the inflammatory response in these patients.
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PMID:Two cases of suspected familial erythrophagocytic lymphohistiocytosis. 724 97

Hospital records of seventeen patients (11 males & 6 females) with Langerhans cell histiocytosis, confirmed by electron microscopic demonstration of Birbeck granules, were studied retrospectively from October 1982 to October 1992 at Taichung Veterans General Hospital. The ages at presentation ranged from 5 months to 17 years (a median of 6 years). The clinical features were protean and included fever, pain, bony lesions, lung lesions, abnormal dentition, diabetes insipidus, oral ulcer, otorrhea, dermatitis, anemia, thrombocytopenia, lymphadenopathy, and hepatosplenomegaly. Skull and femur were the most common sites of bony lesions. The main therapeutic modalities were excision, radiotherapy, and chemotherapy with vincristine and prednisolone. The young age at presentation, several involved organ systems, presence of organ dysfunction, and clinical diagnosis with Letterer-Siwe disease were poor prognostic factors. Although Langerhans cell histiocytosis is not a rare disease, the cause is still unknown. It needs further research to disclose the mystery.
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PMID:Langerhans cell histiocytosis: a 10-year review. 794 24

We describe an infant with the unusual combination of Down syndrome, congenital toxoplasmosis, and central diabetes insipidus. Hydrocephalus was documented by fetal ultrasonography at 36 weeks' gestation. He developed central diabetes insipidus as a neonate, followed by interstitial pneumonia, anemia, and hepatosplenomegaly. The patient's serum titer for Toxoplasma-specific IgM (ELISA) at 37 days after delivery was negative, but the Toxoplasma SAG1 gene was detected from the cells of the cerebrospinal fluid on the same day using the polymerase chain reaction (PCR) method. Congenital toxoplasmosis can contribute to the development of central diabetes insipidus in infants. PCR was useful in diagnosing congenital toxoplasmosis rapidly and accurately.
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PMID:Congenital toxoplasmosis complicated by central diabetes insipidus in an infant with Down syndrome. 890 49

This article reports a 7-year-old female with septo-optic dysplasia and congenital hepatic fibrosis. She manifested nystagmus and severe hepatosplenomegaly. Brain magnetic resonance imaging revealed agenesis of the septum pellucidum, optic nerve hypoplasia, pituitary gland stalk hypoplasia, and absence of the posterior pituitary gland. She was diagnosed with growth hormone deficiency, hypothyroidism, diabetes insipidus, and adrenal insufficiency. Thus, this case was regarded as septo-optic dysplasia. No mutation was evident in the coding and boundary regions of the homeobox gene HESX1. Percutaneous biopsy of the liver demonstrated the presence of broad septa of fibrous tissue containing abundant bile ducts without inflammatory cell infiltrates, a finding compatible with congenital hepatic fibrosis. Although there is an association between septo-optic dysplasia and neonatal cholestasis, believed to be related to hypopituitarism, this case of septo-optic dysplasia with congenital hepatic fibrosis is apparently the first reported in the English literature.
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PMID:Septo-optic dysplasia with congenital hepatic fibrosis. 1458 Jun 61

Although cancer in children is rare, it is the second most common cause of childhood mortality in developed countries. It often presents with nonspecific symptoms similar to those of benign conditions, leading to delays in the diagnosis and initiation of appropriate treatment. Primary care physicians should have a raised index of suspicion and explore the possibility of cancer in children who have worrisome or persisting signs and symptoms. Red flag signs for leukemia or lymphoma include unexplained and protracted pallor, malaise, fever, anorexia, weight loss, lymphadenopathy, hemorrhagic diathesis, and hepatosplenomegaly. New onset or persistent morning headaches associated with vomiting, neurologic symptoms, or back pain should raise concern for tumors of the central nervous system. Palpable masses in the abdomen or soft tissues, and persistent bone pain that awakens the child are red flags for abdominal, soft tissue, and bone tumors. Leukokoria is a red flag for retinoblastoma. Endocrine symptoms such as growth arrest, diabetes insipidus, and precocious or delayed puberty may be signs of endocranial or germ cell tumors. Paraneoplastic manifestations such as opsoclonus-myoclonus syndrome, rheumatic symptoms, or hypertension are rare and may be related to neuroblastoma, leukemia, or Wilms tumor, respectively. Increased suspicion is also warranted for conditions associated with a higher risk of childhood cancer, including immunodeficiency syndromes and previous malignancies, as well as with certain genetic conditions and familial cancer syndromes such as Down syndrome, Li-Fraumeni syndrome, hemihypertrophy, neurofibromatosis, and retinoblastoma.
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PMID:Signs and symptoms of childhood cancer: a guide for early recognition. 2393 97

Multiple myeloma is a rare malignancy that exhibits a wide range of possible clinical presentations. In recent years, with the advent of stem cell transplantation, the prognosis of patients with multiple myeloma has been increasing. We searched the literature for reports of atypical myeloma presentations to aid clinicians in formulating differential diagnoses and to increase the number of cases diagnosed early. There have been a number of reports of early ocular symptoms, including, but not limited to, proptosis, optic neuropathy, vision loss, retinal hemorrhage, and detachment. Neurological presentations included cranial nerve palsies, vertigo related to cerebellar involvement, and diabetes insipidus related to pituitary involvement. Among gastrointestinal manifestations, there are a number of reports of multiple myeloma presenting as acute and chronic pancreatitis. Mesenteric ischemia due to amyloidosis, acute abdomen, and hepatosplenomegaly were also among reported presentations. When it comes to renal involvement, while acute renal failure and proteinuria are typical, there are reports of patients presenting with both nephritic and nephrotic forms of glomerular disease, as well as end-stage renal disease requiring dialysis. We believe that it is essential for clinicians to keep reporting atypical multiple myeloma presentations and consider it as a possible diagnosis in a patient with serious, atypical symptoms.
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PMID:Uncommon Presentations of Multiple Myeloma. 3263 79