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)

Placental mesenchymal dysplasia (PMD) is a rare placental abnormality characterised by placentomegaly and grape-like vesicles resembling partial mole by ultrasonography, but in contrast to partial mole can co-exist with a viable fetus. Although the karyotype is normal, the fetus is at increased risk for intrauterine growth restriction, intrauterine fetal demise or perinatal death and Beckwith-Wiedemann syndrome. Prenatal diagnosis is difficult and the final diagnosis is usually achieved by postpartum histological examination of the placenta. We present two recent cases of placental mesenchymal dysplasia with poor obstetric outcome. One fetus presented with reduced growth parameters, while the other fetus showed hepatosplenomegaly and early hydropic changes that appear to be associated with Beckwith-Wiedemann syndrome. In this report, the clinico-pathological features of two cases of PMD are discussed and the differentiation from a partial mole is highlighted. This study also supports the utility of cytogenetic ploidy analysis and p57KIP2 protein staining in the evaluation of pregnancies with PMD.
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PMID:Placental mesenchymal dysplasia: a rare clinicopathologic entity confused with molar pregnancy. 2355 Aug 50

The mucopolysaccharidoses (MPS) and mucolipidoses (ML) are progressive storage disorders that share many clinical features varying from facial dysmorphism, bone dysplasia, hepatosplenomegaly, neurological abnormalities, developmental regression, and a reduced life expectancy at the severe end of the clinical spectrum to an almost normal clinical phenotype and life span in patients with more attenuated disease. MPS and ML are transmitted in an autosomal recessive manner, except for the X-linked MPS II (Hunter syndrome). Diagnosis is initially by detecting partially degraded GAG or oligosaccharide in urine and confirmed by specific enzyme assays in serum, leukocytes, or skin fibroblasts. For the majority of disorders treatment is palliative, but there have been important advances in the use of specific enzyme replacement therapy strategies for some MPS disorders and this is an area of very rapid development. In addition, hematopoietic stem cell transplantation (HSCT) can improve outcome in carefully selected patients with MPS (especially MPS IH, Hurler syndrome), but this procedure is associated with significant risk. Gene augmentation/transfer using a variety of vectors has been successful in animal models but has not yet been successfully performed in a human patient with one of these disorders. It is important to remember that prenatal diagnosis is possible for all of these disorders.
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PMID:Mucopolysaccharidoses and mucolipidoses. 2362 95

Lysosomal storage disorders (LSDs) are considered to be a rare metabolic disease for the national health forum, clinicians, and scientists. This study aimed to know the prevalence of different LSDs, their geographical variation, and burden on the society. It included 1,110 children from January 2002 to December 2012, having coarse facial features, hepatomegaly or hepatosplenomegaly, skeletal dysplasia, neuroregression, leukodystrophy, developmental delay, cerebral-cerebellar atrophy, and abnormal ophthalmic findings. All subjects were screened for I-cell disease, glycolipid storage disorders (Niemann-Pick disease A/B, Gaucher), and mucopolysaccharide disorders followed by confirmatory lysosomal enzymes study from leucocytes and/or fibroblasts. Niemann-Pick disease-C (NPC) was confirmed by fibroblasts study using filipin stain. Various storage disorders were detected in 387 children (34.8 %) with highest prevalence of glycolipid storage disorders in 48 %, followed by mucopolysaccharide disorders in 22 % and defective sulfatide degradation in 14 % of the children. Less common defects were glycogen degradation defect and protein degradation defect in 5 % each, lysosomal trafficking protein defect in 4 %, and transport defect in 3 % of the patients. This study demonstrates higher incidence of Gaucher disease (16 %) followed by GM2 gangliosidosis that includes Tay-Sachs disease (10 %) and Sandhoff disease (7.8 %) and mucopolysaccharide disorders among all LSDs. Nearly 30 % of the affected children were born to consanguineous parents and this was higher (72 %) in children with Batten disease. Our study also demonstrates two common mutations c.1277_1278insTATC in 14.28 % (4/28) and c.964G>T (p.D322Y) in 10.7 % (3/28) for Tay-Sachs disease in addition to the earlier reported c.1385A>T (p.E462V) mutation in 21.42 % (6/28).
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PMID:Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 2385 24

The lysosomal storage disorders are a clinically heterogeneous group of inborn errors of metabolism, associated with the accumulation of incompletely degraded macromolecules within several cellular sites. Affected individuals present with a broad range of clinical problems, including hepatosplenomegaly and skeletal dysplasia. Onset of symptoms may range from birth to adulthood. Most are associated with neurologic features. Later-onset forms are often misdiagnosed as symptoms, which might include psychiatric manifestations, are slowly progressive, and may precede other neurologic or systemic features. Symptomatic care, which remains the mainstay for most subtypes, can lead to significant improvement in quality of life.
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PMID:Clinical neurogenetics: neuropathic lysosomal storage disorders. 2417 23

Patients with mucopolysaccharidoses (MPS) have accumulation of glycosaminoglycans in multiple tissues which may cause coarse facial features, mental retardation, recurrent ear and nose infections, inguinal and umbilical hernias, hepatosplenomegaly, and skeletal deformities. Clinical features related to bone lesions may include marked short stature, cervical stenosis, pectus carinatum, small lungs, joint rigidity (but laxity for MPS IV), kyphoscoliosis, lumbar gibbus, and genu valgum. Patients with MPS are often wheelchair-bound and physical handicaps increase with age as a result of progressive skeletal dysplasia, abnormal joint mobility, and osteoarthritis, leading to 1) stenosis of the upper cervical region, 2) restrictive small lung, 3) hip dysplasia, 4) restriction of joint movement, and 5) surgical complications. Patients often need multiple orthopedic procedures including cervical decompression and fusion, carpal tunnel release, hip reconstruction and replacement, and femoral or tibial osteotomy through their lifetime. Current measures to intervene in bone disease progression are not perfect and palliative, and improved therapies are urgently required. Enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), and gene therapy are available or in development for some types of MPS. Delivery of sufficient enzyme to bone, especially avascular cartilage, to prevent or ameliorate the devastating skeletal dysplasias remains an unmet challenge. The use of an anti-inflammatory drug is also under clinical study. Therapies should start at a very early stage prior to irreversible bone lesion, and damage since the severity of skeletal dysplasia is associated with level of activity during daily life. This review illustrates a current overview of therapies and their impact for bone lesions in MPS including ERT, HSCT, gene therapy, and anti-inflammatory drugs.
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PMID:Therapies for the bone in mucopolysaccharidoses. 2553 51

We report the case of a healthy 17-year-old adolescent boy with an unremarkable medical history who presented with an asymptomatic fixed rash on the abdomen, buttocks, and legs. The rash initially developed in a small area on the right leg 2 years prior and had progressed slowly. Prior biopsies were consistent with pigmented purpura. Clinical examination revealed multiple annular purpuric patches on the abdomen, buttocks, and legs covering approximately 20% of the body surface area without lymphadenopathy or hepatosplenomegaly. Additional biopsies demonstrated changes consistent with mycosis fungoides (MF). T-cell receptor g gene rearrangements demonstrated clonality. The patient was diagnosed with stage IB MF of the pigmented purpura-like variant. The patient responded well to psoralen plus UVA therapy. It has been proposed that pigmented purpuric dermatosis (PPD) is a form of cutaneous T-cell lymphoid dyscrasia and that T-cell gene rearrangement studies should be obtained for prognostic evaluation in patients with widespread disease. In our patient, the clinical appearance of the lesions, pathologic findings, and gene rearrangement studies led to the diagnosis of MF. Until the potential for evolution of PPD to malignant disease is better understood, further evaluation of MF in patients with an unusual presentation of pigmented purpura is warranted.
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PMID:The spectrum of pigmented purpuric dermatosis and mycosis fungoides: atypical T-cell dyscrasia. 2556 71

Distinctive facial features, hepatosplenomegaly or cardiomyopathy with or without associated skeletal dysplasia are clinical manifestations that may be suggestive of an underlying lysosomal storage disorder (LSD), However, these features may not be evident in certain subtypes associated primarily with central nervous system involvement. Age at onset can be broad, ranging from infancy to adulthood. Diagnosis may be delayed, as manifestations may be slow to evolve (taking months to years), particularly in those with later (adult-)onset, and in isolated cases (i.e., those without a prior family history). Diagnosis of individual subtypes can be confirmed using a combination of biochemical and molecular assays. In a few LSDs, treatment with hematopoietic stem cell transplantation, enzyme replacement or substrate reduction therapy is available. Symptomatic and palliative measure may enhance quality of life for both treatable and currently untreatable cases. Genetic counseling is important, so patients and their families can be informed of reproductive risks, disease prognosis and therapeutic options. Investigations of underlying disease mechanisms are enhancing knowledge about rare diseases, but also other more common medical conditions, on account of potential convergent disease pathways.
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PMID:Non-neuronopathic lysosomal storage disorders: Disease spectrum and treatments. 2598 71

Osteosclerotic metaphyseal dysplasia (OMD) is a very rare sclerosing bone disorder. To date, four cases have been documented in three reports. Here, we present the case of a 12-year-old girl with a history of recurrent respiratory infections, hypotonia, developmental delay, genu valgum, and hepatosplenomegaly. Radiographs revealed profound, ivory-white sclerosis of the metaphyses and epiphyses of the long bones in both the upper and lower extremities. Sclerosis also affected the ends or margins of the flat bones, including the mandible, clavicles, scapulae, ribs, iliac crests, ischia, pubic bones, talus, calcaneus, and some vertebrae, to varying degrees. Based on the clinical, radiographic, and laboratory findings, a diagnosis of OMD was made. Our patient is the fifth case of OMD reported in the international literature and shares clinical and radiological similarities with four other reported cases of OMD. However, the extensive interstitial pulmonary lesions observed on computed tomography images in the present case have not been previously documented. This pulmonary disorder, which may be associated with OMD, should be evaluated in subsequently encountered cases.
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PMID:Osteosclerotic metaphyseal dysplasia with extensive interstitial pulmonary lesions: a case report and literature review. 2608 87

Ollier's disease also known as enchondromatosis is a rare skeletal disorder that is usually sporadic, non-hereditary, and characterized by abnormal bone development (skeletal dysplasia). While this disorder may be present at birth (congenital); it may not become apparent until early childhood with more obvious symptoms, such as deformities or improper limb growth. It carries high risk of skeletal, visceral and brain malignancy seen in approximately 25% of patients. Occurrence of Ollier's disease with myelodysplastic syndrome has never been reported in the literature. The different types of myelodysplastic syndromes are diagnosed based on certain changes in the blood cells and bone marrow characterized by one or more cytopenias despite a relatively hypercellular bone marrow. We hereby report the case of a 14 years boy who presented with painless finger swelling and hepatosplenomegaly. Radiological and bone marrow findings confirmed the diagnosis of Ollier's disease with Refractory Anemia and Excess Blasts (RAEB-1).
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PMID:Ollier's Disease with Myelodysplastic Syndrome. 2645 95

Drug reaction with eosinophilia and systemic symptoms (DRESS) or drug hypersensitivity syndrome is considered as a severe cutaneous adverse drug reaction which is most commonly precipitated by aromatic anticonvulsants, lamotrigine, dapsone, allopurinol, minocycline, and salazopyrin. Its clinical manifestations are often variable. On rare occasions, it can present with only systemic involvement without any cutaneous features. A complete drug history is of paramount importance in making an early diagnosis. We report the case of a male patient who presented with fever, lymphadenopathy, hepatosplenomegaly, and hepatitis, 2 weeks after starting salazopyrin. The presence of atypical lymphocytes in the peripheral smear was indicative of a viral infection or a hematological dyscrasia. Bone marrow examination revealed a normocellular marrow with an increase in eosinophil precursors. Investigations for the common causes for fever and hepatitis were negative. The presence of eosinophilia, the temporal relationship of the symptoms with the initiation of treatment with salazopyrin, and the marked improvement on withdrawal of the drug along with the administration of systemic corticosteroids, were features consistent with the diagnosis of DRESS. With the incidence of this condition showing a rising trend, it is important for the clinician to be aware of its variable manifestations, as a delay in diagnosis and treatment can be fatal.
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PMID:Drug reaction with eosinophilia and systemic symptoms without skin rash. 2672 67


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