Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027947 (neutropenia)
 17,527 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 7-year-old boy presented with bilateral ptosis and atypical retinitis pigmentosa. Before age two, he had had an Fe-refractory anemia, with neutropenia and thrombopenia. Just prior to the ophthalmic examination, the patient developed lactate acidosis, muscular hypotonia, ataxia and increased protein in the spinal fluid. Pancytopenia, pancreas dysfunction and growth retardation are the main features of Pearson's syndrome, most children not surviving beyond age three. The cause of Pearson's syndrome in our patient turned out to be a 5 kb deletion in the mitochondrial DNA. Similar deletions have been described in the Kearns-Sayre syndrome. It seems that children who survive the initial phase of Pearson's syndrome, may develop Kearns-Sayre syndrome.
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PMID:Kearns-Sayre's syndrome developing in a boy who survived pearson's syndrome caused by mitochondrial DNA deletion. 130 30

A patient with features of Pearson's syndrome who presented with transfusion-dependent severe macrocytic anaemia, neutropenia, thrombocytopenia, and insulin-dependent diabetes mellitus in the neonatal period is described. His bone marrow was characterized by marked vacuolization of myeloid precursors and ringed sideroblasts. Autopsy examination revealed fibrosis and steatosis of the liver, reduction in the size and number of the islets, fibrosis and acinar atrophy of the pancreas, vacuolation of renal tubules, glomerulosclerosis, and "ragged red" fibres of skeletal muscles. Analysis of mitochondrial DNA (mtDNA) from the autopsied liver and skeletal muscle showed mtDNA heteroplasmy in both tissues, with one population of mtDNA deleted by 7374 bp. The deleted region was bridged by a single nucleotide, C, in normal mtDNA.
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PMID:Pearson's marrow/pancreas syndrome: a histological and genetic study. 823 18

Shwachman's syndrome is a rare disease characterized by the association of chronic diarrhea due to exocrine pancreatic insufficiency, metaphyseal dysostosis, and neutropenia. The diagnosis requires demonstration of lipomatosis, or fatty replacement of the pancreas, which is the typical pathological feature of the disease. Magnetic resonance imaging (MRI) was performed in 13 patients with exocrine pancreatic insufficiency, 7 with Shwachman's syndrome, 2 with Pearson's syndrome, 1 with normal sweat test later diagnosed as cystic fibrosis, and 3 without identified syndrome, and in 7 control children. Ultrasonography in the patients did not differentiate between atrophy and lipomatosis and could not be performed in 3. MRI visualized the pancreas in all. The same image was noted in all patients with Shwachman's syndrome with a normal-sized or enlarged pancreas, a hyperintense signal on T1- and T2-weighted image, and a null signal on short time inversion recovery (STIR)-weighted image, characteristic of fat. In all other patients, the findings were very different: The pancreas was a small structure surrounded with fat. In 1 patient without identified syndrome, the pancreas appeared to be partially replaced with fat. MRI is an excellent imaging technique to correlate the nature of a tissue and its radiological representation, especially fat, which gives a very typical signal. In our brief series of patients with Shwachman's syndrome, MRI had 100% positive predictive value in demonstrating lipomatosis. In atypical cases of pancreatic insufficiency in which some of the clinical features of Shwachman's syndrome are absent. MRI is an invaluable aid in the diagnostic procedure.
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PMID:Magnetic resonance imaging for diagnosis of Shwachman's syndrome. 898 52