Cases reported "Protein Deficiency"

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11/21. purpura fulminans in a Chinese boy with congenital protein c deficiency.

    Severe and recurrent purpura fulminans developed in a Chinese boy at one day of age. Results of coagulation studies performed on the patient during attacks were compatible with the diagnosis of disseminated intravascular coagulation. Subsequent investigations have revealed that the patient is homozygous and that his parents are heterozygous for protein c deficiency. Cryoprecipitate and fresh frozen plasma induced a remission, and administration of warfarin has been successful in preventing recurrence of attacks for as long as 8 months without infusion of any plasma components. None of the family members who are heterozygous for protein c deficiency have had thrombotic episodes. ( info)

12/21. Idiopathic spontaneous deep venous thrombophlebitis in an adolescent: a case report.

    A rare case of spontaneous deep venous thrombophlebitis in a 15-year-old adolescent is presented. This case is remarkable as it lacks any associated conditions and predisposing factors, as well as an etiologic diagnosis. ( info)

13/21. Severe homozygous protein c deficiency.

    An infant with recurrent purpura fulminans in the first year of life was found to have severe homozygous deficiency of protein C (less than 1% of normal levels). The episodes of purpura fulminans were controlled by infusions of fresh frozen plasma containing protein C. The requirement of frequent plasma infusions, however, eventually resulted in several complications secondary to hyperproteinemia. factor ix concentrates rich in protein C were then given to maintain adequate levels of the factor while minimizing the amount of extraneous proteins. The patient has remained asymptomatic and free of complications for greater than 10 months while receiving these concentrates every 48 hours. ( info)

14/21. Isolated congenital lipase-colipase deficiency.

    A 5-yr-old child with isolated combined pancreatic lipase and colipase deficiency is described. The patient has a history of passing oily stools since birth. Pancreatic stimulation tests showed that both lipase and colipase activities were less than 2% of normal control values. Despite the total lack of both enzymes, the patient's fat absorption coefficient was 50%. Fat absorption coefficient increased to 82% with pancreatic enzyme supplementation. This is the first report of congenital combined lipase and colipase deficiency. ( info)

15/21. Deficiency of the hexosaminidase a activator protein in a case of GM2 gangliosidosis; variant AB.

    A patient is described whose clinical course and pathologic features, including massive brain storage of GM2 ganglioside in grey matter, are identical with those of classical tay-sachs disease despite normal levels of beta -N-acetyl hexosaminidase and normal isozyme distribution. The kinetic properties and thermolability of the patient's hexosaminidase are normal. Crude extracts of a postmortem sample of patient's liver can catalyze the hydrolysis of 5.1 pmoles of labeled GM2 ganglioside/16 h/mg of protein (control liver = 69.9 pmoles/16 h/mg). Addition of partially purified human liver hexosaminidase a activator protein stimulated the hydrolysis of substrate by the patients liver extract by 27-fold compared to 3-fold for control livers. Measurement of "activator" in enriched fractions of patient's and control liver showed a reduced (25-30% of control) amount of stimulation of hexosaminidase a catalyzed hydrolysis of GM2 ganglioside as well as of Asialo-GM2 ganglioside. The addition of sphingomyelin to reaction mixtures, which is known to inhibit surfactant stimulation of hexosaminidase a, reduced activation of hexosaminidase a by patient's liver preparation to undetectable levels. Polyacrylamide gel electrophoresis of enriched preparations of control and patient's liver showed a rapidly migrating protein band in control liver corresponding to the activator protein and the absence of this protein band in the patient's liver. ( info)

16/21. plesiomonas shigelloides overgrowth in the small intestine.

    An 83-year-old male presented with chronic diarrhea and protein malnutrition associated with plesiomonas shigelloides overgrowth in the small intestine. This overgrowth was related to achlorhydria and small-bowel diverticula. Tests for heat-labile and heat-stable enterotoxin were negative on the P. shigelloides isolated from both the small bowel aspirate (3 x 10(8) bacteria per ml) and the patient's stool. The patient responded satisfactorily to tetracycline, to which this unusual isolate was susceptible in vitro. The ability to correctly identify and determine the antimicrobial susceptibility of P. shigelloides in the setting of small-bowel overgrowth will help determine appropriate therapy. ( info)

17/21. Isolated co-lipase deficiency in two brothers.

    Two normally developed Assyrian brothers with isolated pancreatic co-lipase deficiency are described. They presented at the age of 5-6 years with loose stools. They had steatorrhoea, and analysis of exocrine pancreatic enzymes in the small intestine showed co-lipase deficiency, while amylase, chymotrypsin, trypsin and lipase were normal. Intraduodenal infusion of purified co-lipase improved fat digestion measured by the triolein breath test. Their steatorrhoea diminished on treatment with enteric-coated pancreatic enzymes. ( info)

18/21. Reversible hepatotoxicity associated with hepatic vitamin a accumulation in a protein-deficient patient.

    A 62-yr-old white male presented with edema, protein malnutrition, and abnormal liver function. He had ingested from 40,000-50,000 IU of vitamin a per day for 7 yr. Examination of liver tissue by light and electron microscopy revealed findings characteristic of an excessive accumulation of vitamin a. liver tissue contained massive amounts of vitamin a (19,000 IU/g); however, both the serum concentration of vitamin a and retinol-binding protein were below normal, and serum RBP was not saturated. On a normal diet the patient was able to mobilize hepatic vitamin a, as indicated 71 days later by a repeat biopsy of the liver, which then contained 9000 IU of vitamin a/g. During this time his nutrition improved, serum vitamin a rose, and serum RBP became transiently saturated. The amount of vitamin a ingested by this patient was less than that usually producing recognizable hepatotoxicity, and he had no extra hepatic manifestations of vitamin toxicity, consistent with a low serum vitamin a concentration and a low vitamin a to retinol-binding protein ratio. At presentation he was apparently unable to normally mobilize vitamin a from his liver, which may have been due to an accompanying protein deficiency. ( info)

19/21. Prenatal detection of a probable heterozygote for ADA deficiency and severe combined immunodeficiency disease using a microradioassay.

    A pregnancy at risk for adenosine deaminase deficiency and severe combined immunodeficiency disease has been investigated by assay of adenosine deaminase activity in cultured amniotic fluid cells using a microradioassay. A low-normal level of activity consistent with heterozygote status in the foetus was found and confirmed after birth by assay of red cell and fibroblast adenosine deaminase activities. It is suggested that the radioassay method offers significant advantages in sensitivity and specificity over the standard spectrophotometric procedure. ( info)

20/21. Neurological complications in children with protein c deficiency.

    Four children with a cerebrovascular occlusive accident and protein c deficiency are described. Two patients presented with an acute hemiplegia, the others suffered from a transient ischemic attack and a progressive hydrocephalus as the result of sinus thrombosis. In all cases protein c deficiency, Type 1, was diagnosed. Other causes of cerebrovascular disease were excluded. Although venous thrombosis has been extensively reported in protein c deficiency, these cases indicate that protein c deficiency is also related to arterial thrombosis. In evaluating children with cerebrovascular accidents, protein c deficiency should also be considered. ( info)
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