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)

In two Turkish brothers familial haemophagocytic lymphohistiocytosis (FHLH) was diagnosed at 3 years and 2.5 months, respectively. FHLH is a rare autosomal recessive condition with a typical clinical presentation including prolonged fever, failure to thrive, irritability and hepatosplenomegaly. Laboratory evaluations show cytopenia (at least two out of the three cell lines), hypertriglyceridaemia and hypofibrinogenaemia. A pathognomonic sign is haemophagocytosis in bone marrow or tissue biopsy. Both patients were treated with stem-cell transplants using bone marrow and peripheral blood stem cells, respectively, from one unrelated donor. They showed a good haematological recovery, with minor complications, and at follow-up after one year were free of disease. Immune suppression can induce prolonged remission in FHLH, but cure is only achieved after a successful allogeneic stem-cell transplantation. Without transplantation, the prognosis is very poor.
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PMID:[Two brothers with familial hemophagocytic lymphohistiocytosis, treated by transplantation of stem cells from a single unrelated donor]. 1249 61

White, identical twin boys aged 3 months were referred to our centre with persisting fever, mouth ulcers, hepatosplenomegaly, pancytopenia and failure to thrive. The parents were first cousins and there was a history of a sibling with similar manifestations who had died. The infants had silvery-grey hair and pigment clumps on the hair shafts, and skin biopsy showed accumulation of melanocytes on melanosomes. Bone marrow revealed hypercellularity and haemophagocytosis. HLH-94 chemotherapy (initial therapy with daily dexamethasone and etoposide, maintenance with dexamethasone pulses, etoposide and cyclosporin A) was started. Though partial haematological remission was achieved, one of the boys died on the 34th day following aspiration pneumonia. No pathogen could be identified. The second boy responded to therapy but had a haematological relapse and died 68 days after first being admitted. Genetic study revealed a 5 bp deletion in the RAB27A gene (510 del AAGCC in exon 5). Transient haematological remission can be achieved with chemotherapy but allogeneic bone marrow transplantation is the only curative therapy in Griscelli disease, as in other familial haemophagocytic syndromes. Identification of the mutation also provides an opportunity for prenatal diagnosis.
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PMID:A rare syndrome in the differential diagnosis of hepatosplenomegaly and pancytopenia: report of identical twins with Griscelli disease. 1264 28

Wolman disease is a rare autosomal-recessive disorder caused by reduced levels of lysosomal acid lipase. It occurs in infancy and is fatal in most cases before the age of 1 year. Affected infants show signs of lipid storage in most tissues, including hepatosplenomegaly, abdominal distension, vomiting, steatorrhea, failure to thrive, and adrenal calcifications. We present a case of isolated fetal ascites diagnosed at 32 weeks of gestation, with negative work-up for immune and non-immune hydrops fetalis and congenital infections and malformations. After delivery, the diagnosis of Wolman disease was established. Although rare, storage diseases such as Wolman disease should be considered in cases of isolated fetal ascites.
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PMID:Isolated fetal ascites caused by Wolman disease. 1266 27

Perinatal tuberculosis is a rare disease with a high mortality rate and is difficult to diagnose. We report a case of perinatal tuberculosis diagnosed by postmortem study at the age of 3 months. An 83-day-old male infant presented with cough for 3 weeks and intermittent fever for 1 week. A focal tonic convulsion occurred on the day of admission. Physical examination revealed failure to thrive, tachypnea, and marked hepatosplenomegaly. Chest roentgenogram showed bilateral nodular alveolar-interstitial infiltrates. Abdominal computed tomography showed multiple nodules in the liver and spleen as well as lymphadenopathy in the hepatic portal hilum. Antituberculous therapies were prescribed on the second hospital day. The patient died from respiratory failure on the sixth hospital day. Mycobacterium tuberculosis was cultured from gastric aspirates and cerebrospinal fluid 4 weeks after inoculation. Postmortem examination revealed disseminated necrotizing granulomas in several organs and tissues, including the porta hepatis lymph nodes, a primary hepatic complex. M. tuberculosis infection was diagnosed in his mother based on positive findings of Mautoux test and chest roentgenogram. This case illustrates that tuberculosis, though rare, still should be considered in poor-weight-gain neonates with cough, fever, and/or hepatosplenomegaly. Careful maternal and other family contact history is essential to establishing the diagnosis.
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PMID:Perinatal tuberculosis in a three-month-old infant. 1508 46

A 5-week-old female infant with vertical HIV-1 exposure, progressive cough, and failure to thrive was given a diagnosis of bilateral diffuse nodular lung lesions. The child was without fever, leukocytosis, anemia, peripheral adenopathy, or hepatosplenomegaly, and the results of repeated blood tests for HIV-1 DNA were negative. A needle biopsy of the lungs revealed granulomatous inflammation and giant cells, with fungal organisms suggestive of Aspergillus species. A nitroblue tetrazolium dye test performed on the patient's blood specimen demonstrated absence of dye reduction, suggesting a diagnosis of chronic granulomatous disease. Further analysis revealed that the child had a deficiency of the p47(phox) component of the nicotinamide adenine dinucleotide phosphate oxidase system. Thus this child with vertical HIV-1 exposure and diffuse pulmonary nodules actually had an autosomal recessive form of chronic granulomatous disease. This case study clearly demonstrates that children with suspected HIV-1 infection might also need evaluation for primary immunodeficiency and that the clinical immunology laboratory is a powerful adjunct in coming to a correct diagnosis.
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PMID:A 5-week-old HIV-1-exposed girl with failure to thrive and diffuse nodular pulmonary infiltrates. 1510 Jun 65

Osteopetrosis is a heterogeneous family of rare human genetic disorders due to markedly decreased bone resorption. It is one among disorders causing osteosclerosis of the trabecular bone and/or hyperostosis of the cortical bone. Four types of human osteopetrosis have been clearly defined, but patients with atypical symptoms are frequent, suggesting that there are additional forms. The most severe expression of this condition in its malignant form is inherited as an autosomal recessive disorder and it is usually fatal before school age. It presents with failure to thrive, severe hepatosplenomegaly, pancytopenia and nerve compression leading to blindness and deafness during infancy. The case of a 2-month-old female child with severe hepatosplenomegaly, failure to thrive, nystagmus, pancytopenia, gengival hyperplasia, optic atrophy, absent evoked visual potential and increased bone density within the total skeleton, is reported. Diagnosis of autosomal recessive malignant osteopetrosis was established by transiliac bone biopsy. She underwent bone marrow transplantation, but died soon afterwards. This rare and mortal disorder of bone formation requires early diagnosis and immediate pharmacological treatment, consisting in administration of vitamin D, in order to enhance bone resorption and of prednisone to improve hematological indexes and, if possible, bone marrow transplantation in order to ameliorate quality of life and survival.
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PMID:Autosomal malignant osteopetrosis. From diagnosis to therapy. 1524 21

To describe the epidemiological, clinical, laboratory, and evolution characteristics of 18 patients with chronic granulomatous disease (CGD). In this retrospective study, clinical, laboratory, and epidemiological data were obtained from the medical records of all patients with CGD seen at the Allergy and Immunology Unit of the Pediatrics Department (School of Medicine, University of Sao Paulo) from January 1979 to December 2001. Medical history and physical examination data, personal and family history, presence of consanguinity, weight and height data, presence of hepatosplenomegaly, adenomegaly, or other relevant alterations at the time of admission were obtained for all patients. We reviewed 18 patients (male:female, 8:1) with a median duration of symptoms of 1.25 months and with a median time since diagnosis of 13 months. A family history of death as a result of infection was reported by three patients and five other patients had a common relative with CGD who was included in the series. The clinical manifestations observed were: failure to thrive, adenomegaly, hepatosplenomegaly, pneumonia, and abscesses. Relevant laboratory data were hypergammaglobulinemia and nitroblue tetrazolium reduction test of 0% in 14 patients. Seven patients received IFN-gamma and 11 sulfamethoxazole-trimethoprim. Six patients died of suppurative pulmonary infections. Age at the onset of symptoms was early, although diagnosis was late in some patients. Pulmonary involvement was the most prevalent clinical manifestation in the different phases of the disease and the major cause of death. Hypergammaglobulinemia, anemia, and leukocytosis were relevant laboratory data.
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PMID:Clinical and laboratory aspects of chronic granulomatous disease in description of eighteen patients. 1569 5

We describe the second case of congenital disorder of glycosylation type IL (CDG-IL) caused by deficiency of the ALG9 a1,2 mannosyltransferase enzyme. The female infant's features included psychomotor retardation, seizures, hypotonia, diffuse brain atrophy with delayed myelination, failure to thrive, pericardial effusion, cystic renal disease, hepatosplenomegaly, esotropia, and inverted nipples. Lipodystrophy and dysmorphic facial features were absent. Magnetic resonance imaging of the brain showed volume loss in the cerebral hemispheres and cerebellum and delayed myelination. Laboratory investigations revealed low levels of multiple serum proteins including antithrombin III, factor XI, and cholesterol. Hypoglycosylation was confirmed by the typical CDG type 1 pattern of serum transferrin analyzed by isoelectric focusing. A defect in the ALG9 enzyme was suggested by the accumulation of the DolPP-GlcNAc2Man6 and DolPP-GlcNAc2Man8 in the patient's fibroblasts and confirmed by mutation analysis: the patient is homozygous for the ALG9 mutation p.Y286C. The causal effect of the mutation was shown by complementation assays in alg9 deficient yeast cells. The child described here further delineates the clinical spectrum of CDG-IL and confirms the significant clinical overlap amongst CDG subtypes.
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PMID:CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. 1594 70

Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enzyme of cholesterol biosynthesis. At least 30 patients with MVA and 180 patients with HIDS have been reported worldwide. MVA is characterized by psychomotor retardation, failure to thrive, progressive cerebellar ataxia, dysmorphic features, progressive visual impairment and recurrent febrile crises. The febrile episodes are commonly accompanied by hepatosplenomegaly, lymphadenopathy, abdominal symptoms, arthralgia and skin rashes. Life expectancy is often compromised. In HIDS, only febrile attacks are present, but a subgroup of patients may also develop neurological abnormalities of varying degree such as mental retardation, ataxia, ocular symptoms and epilepsy. A reduced activity of MVK and pathogenic mutations in the MVK gene have been demonstrated as the common genetic basis in both disorders. In MVA, the diagnosis is established by detection of highly elevated levels of mevalonic acid excreted in urine. Increased levels of immunoglobulin D (IgD) and, in most patients of immunoglobulin A (IgA), in combination with enhanced excretion of mevalonic acid provide strong evidence for HIDS. The diagnosis is confirmed by low activity of mevalonate kinase or by demonstration of disease-causing mutations. Genetic counseling should be offered to families at risk. There is no established successful treatment for MVA. Simvastatin, an inhibitor of HMG-CoA reductase, and anakinra have been shown to have beneficial effect in HIDS.
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PMID:Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. 1672 36

Niemann-Pick disease (NPD) type A is a rapidly developing metabolic illness, with autosomal recessive mode of inheritance. A deficiency of the lysosomal enzyme--acid sphingomyelinase (ASM) produces the clinical phenotype with multiple organ involvement including the central nervous system. Type A NPD is characterized by failure to thrive, hepatosplenomegaly and rapidly progressive neurodegenerative course that leads to death by the age of 2-3 years. The authors report a 3-year-old boy with fatal course of the disease.
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PMID:[Niemann-Pick disease, type A: a case report]. 1679 64


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