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 case of spinal cord sarcoidosis was reported with special reference to MRI findings. A 15-year-old man was admitted to our hospital because of gait disturbance for last six months. Neurological examination on admission showed spastic paraparesis and posterior column signs. MRI of the cervical spinal cord revealed diffuse swelling and low intensity signal in T1-weighted sequences, diffuse high intensity signal in T2-weighted, and multiple micro-nodular lesion in Gd-DTPA enhanced T1-weighted. At first multiple sclerosis was suspected, although the data of cerebrospinal fluid was not suggestive. Four weeks after admission general fatigue, fever, cough, and headache appeared and the neurological symptoms got worse. Chest film and CT revealed diffuse small nodular shadows in the lung field. Abdominal ultrasonography and CT showed hepatosplenomegaly. The general condition became worse in spite of antibiotic and antituberculotic drug therapy, but remitted spontaneously in four weeks. MRI findings also exacerbated and improved during the same period, being compatible with neurological manifestations. The diagnosis of sarcoidosis was made by transbronchial lung biopsy which revealed sarcoid granuloma. Multiple small nodules on Gd-DTPA enhanced T1-weighted MRI had not been reported in patient with spinal cord sarcoidosis.
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PMID:[A case of spinal cord sarcoidosis with interesting MRI findings]. 178 58

Hyperargininemia is a rare inborn error of metabolism due to arginase deficiency, which is inherited in an autossomal recessive manner. Arginase is the final enzyme of the urea cycle and catalyzes the conversion of arginine to urea and ornithine. This condition typically presents in early childhood (between 2 and 4 years of age) with developmental delay associated with progressive spastic paraparesis. Neonatal presentation is very uncommon with a poorly described outcome. Here, we discuss two cases of neonatal cholestasis as initial clinical presentation of hyperargininemia. In case 1, diagnosis was established at 2 months of age upon investigation of the etiology of cholestatic injury pattern and hepatosplenomegaly, and treatment was then initiated at when the patient was 3 months old. Unfortunately, the patient had progressive biliary cirrhosis to end-stage liver disease complicated with portal hypertension for which she underwent successful orthotopic liver transplant at 7 years of age. In case 2, hyperargininemia was identified through newborn screening and treatment was started when patient was 21 days old. Cholestasis was only identified in the patient's further evaluation and it resolved 2 weeks into treatment. The patient is currently 18 months old and her development and neurological examination remain unremarkable. Neonatal cholestasis as first presentation of hyperargininemia is rare, but this disorder should be included in the differential diagnosis of unexplained cholestasis in the neonate. In fact, these two cases suggest that arginase deficiency may be the cause of cholestatic liver disease.
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PMID:Neonatal cholestasis: an uncommon presentation of hyperargininemia. 2122 17

A 72-year-old man suffered from paraparesis with a sensory impairment and bladder and rectal disturbances. Magnetic resonance imaging T2-weighted images depicted a high-intensity lesion in the spinal cord that was consistent with myelitis. A blood examination revealed severe thrombocytopenia and liver dysfunction. No malignant cells were detected by peripheral smears or bone marrow biopsy. Systemic computed tomography detected hepatosplenomegaly and ascites but no lymphadenopathies. Transjugular liver biopsy (TJLB) safely confirmed a diagnosis of intravascular large B-cell lymphoma (IVLBCL), and the patient achieved a complete response following treatment with an appropriate chemotherapy. TJLB is therefore a timely and accurate diagnostic approach for IVLBCL, especially when a bleeding tendency and ascites are noted.
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PMID:Liver dysfunction and thrombocytopenia diagnosed as intravascular large B-cell lymphoma using a timely and accurate transjugular liver biopsy. 2399 80

The cases is presented of a 38 year-old male with a constitutional syndrome, fever, multiple swollen lymph nodes, and hepatosplenomegaly of 2 months onset. There was also mention of headache, bilateral blurred vision, and myiodesopsias. Best correct visual acuity was 20/50 and 20/200. The anterior segment was unremarkable. The fundus of both eyes showed raised and erased discs, accompanied by serous detachment, greater in the left eye. Complementary studies of both eyes showed a visual field with increased blind spot; fluorescein angiography indicated late disc hyperfluorescence. The electroretinogram showed compromise of cones and rods, and the visual evoked potential detected alteration in the perception and conduction of stimuli. The imaging studies were essentially normal. During his hospital admission he presented with paraparesis, renal failure, endocrinopathy, skin alterations, and osteoblastic lesions with negative biopsies. Monoclonal gammopathy was documented, and the diagnosis of POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy, and Skin changes) syndrome was made. The chemotherapy started with dexamethasone/melphalan, with a good response at 3 months.
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PMID:Neuro-ophthalmological manifestations of POEMS syndrome. 3131 88