Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0012739 (disseminated intravascular coagulation)
 8,673 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A female infant with hypoproteinemia and coagulopathy associated with hypertyrosinemia was successfully treated with living-related liver transplantation (LRLT). On the 12th day of life plasma amino acid analysis revealed a marked elevation of tyrosine, so the patient was fed on a low-tyrosine and low-phenylalanine diet. However, hepatosplenomegaly, hypotonia, alopecia, eczema and psychomotor delay did not improve and recurrent episodes of disseminated intravascular coagulation (DIC) caused her condition to deteriorate. Liver biopsy on the 230th day revealed marked fatty change accompanied by mild to moderate cholestasis. Therefore, LRLT from her father was performed on the 286th day resulting in improvement of all the aforementioned signs and symptoms. Despite a thorough examination, no diagnosis of a known disorder could be established. However, her elder brother had also been born with severe hypoproteinemia and coagulopathy, and died of DIC on the second day of life. Thus, the disorder is designated as a new entity, namely 'congenital hypoproteinemia and coagulopathy associated with hypertyrosinemia'.
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PMID:Liver transplantation in a case of hypoproteinemia and coagulopathy. 958 13

We report on a 6-month-old boy with craniosynostosis, pseudohypoparathyroidism type 1a (PHP1A), and a GNAS gene mutation. He had synostoses of the coronal, frontal, and sagittal sutures, brachyturricephaly, and hydrocephaly. He also had congenital hypothyroidism, round face, full cheeks, shortness of limbs, mild developmental delay, and muscular hypotonia. Because of progressive hydrocephaly, the synostosis was corrected surgically but circulatory decompensation led to disseminated intravascular coagulation and cerebral infarctions. Our patient died 8 days later. Postmortem molecular studies of GNAS, the gene for guanine nucleotide-binding protein, alpha-stimulating activity polypeptide (gene for PHP1A), identified a de novo heterozygous 3 bp in frame deletion predicting a deletion of the asparagine residue at position 377 (deltaN377). This is the second report of this mutation. Results of molecular studies of craniosynostosis genes (FGFR2, FGFR3) and of numerous genetic variants predisposing to bleeding disorders were normal. We question whether craniosynostosis and trauma-induced bleeding disorder may be manifestations of PHP1A, or if our patient had two or three different congenital disorders.
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PMID:Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding. 1953 Jan 87

After a 36-week diamniotic dichorionic gestation, an infant was delivered by elective caesarean section due to growth restriction and altered diastolic flow in the umbilical artery. Birth weight was 2140 g. The patient was admitted for exclusive parenteral nutrition, with umbilical venous catheter placement. Sinus tachycardia and temperature instability with positive inflammatory markers occurred at 51 h. Penicillin and gentamicin were started, but 6 h later septic shock with disseminated intravascular coagulation was noted. Vancomycin and meropenem were started and penicillin suspended. Citrobacter koseri was isolated from blood culture. Generalised clonic convulsions occurred on day 4, and an electroencephalogram revealed severe encephalic dysfunction. Cerebrospinal fluid cytochemical analysis was suggestive of meningitis, although culture was negative. Cefotaxime was added to the drug regimen. Cranioencephalic MR showed a temporal abscess and diffuse hemispheric destruction, with no indications for neurosurgery. After 6 weeks of therapy, neuroimaging follow-up showed multiloculated cystic encephalomalacia. Currently, the patient is 14 months old with axial hypotonia and decreased movements. The source of infection has not been determined. Nosocomial infection cannot be excluded and vertical transmission is unlikely.
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PMID:Sepsis, meningitis and cerebral abscesses caused by Citrobacter koseri. 2266 8