Vitamin A toxicity presenting as bone pain

2016 ◽  
Vol 102 (6) ◽  
pp. 556-558 ◽  
Author(s):  
Revanth Baineni ◽  
Reena Gulati ◽  
CG Kumar Delhi

A 4-year-old boy presented with severe bone pains, refusal to walk, diffuse bony swelling of forelimbs, skin changes and abdominal pain, with symptoms evolving over 6 weeks. Blood screening tests were normal except for raised aspartate aminotransferase (AST). Radiographs revealed thickened periosteum, widening of the diaphyses of long bones and lifted periosteum in mid-shaft of ulnae and right femur. Skeletal scintigraphy showed a high uptake of radionuclide at clinically affected and unaffected sites, suggestive of multifocal osteoblastic skeletal lesions. After repeated enquiries, his parents admitted to giving him massive doses of preformed vitamin A for over 3 months as ‘health tablets’. Surprisingly, he did not have overt liver disease typically found with much smaller doses, although the dermal changes and musculoskeletal pathology were florid. He made a full clinical recovery within 2 months of cessation of vitamin A.

2011 ◽  
Vol 197 (3) ◽  
pp. 713-719 ◽  
Author(s):  
Laura A. Drubach ◽  
Susan A. Connolly ◽  
Edwin L. Palmer

2021 ◽  
Vol 32 (3) ◽  
pp. 181-190
Author(s):  
Dong Hee Seo ◽  
Hyoung Ju Yoon ◽  
Jae Chan Ahn ◽  
Yoo-Sung Hwang

Author(s):  
Jesse Sheftel ◽  
Sherry A Tanumihardjo

ABSTRACT Vitamin A (VA) is an essential nutrient often lacking in the diets of people in developing countries. Accurate biomarkers of VA status are vital to inform public health policy and monitor interventions. The relative dose-response (RDR) and modified-RDR (MRDR) tests are semi-quantitative screening tests for VA deficiency that have been used in Demographic and Health Surveys and VA intervention studies. A systematic review and meta-analysis of sensitivity and specificity were conducted to summarize the physiological evidence to support the RDR tests as methods to assess VA status and investigate the impact of different pathological and physiological states on the tests. A total of 190 studies were screened for inclusion, with 21 studies comparing the RDR tests with the gold-standard biomarker, liver VA concentration (68% and 80% sensitivity and 85% and 69% specificity for the RDR and MRDR, respectively). Nearly all studies with VA interventions in VA-deficient populations demonstrated a response of the tests to VA intake that would be expected to improve VA status. The impacts of chronic liver disease, protein malnutrition, age, pregnancy and lactation, infection and inflammation, and various other conditions were examined in 51 studies. The RDR and MRDR tests were reported to have been used in 39 observational studies, and the MRDR has been used in at least 6 national micronutrient surveys. The RDR and MRDR are sensitive tests for determining population VA status and assessing VA interventions. Although they are robust to most physiological and pathological states, caution may be warranted when using the tests in neonates, individuals with chronic liver disease, and those with protein or iron malnutrition. Research on further improvements to the tests to increase accessibility, such as sampling breast milk instead of blood or using intramuscular doses in subjects with malabsorption, will allow wider adoption. This review was registered with PROSPERO as CRD42019124180.


Blood ◽  
1970 ◽  
Vol 35 (4) ◽  
pp. 462-475 ◽  
Author(s):  
ROBERT C. HARTMANN ◽  
DAVID E. JENKINS ◽  
ANITA B. ARNOLD

Abstract The diagnostic specificity of the various modifications of the sucrose hemolysis test for PNH was examined in detail. In whole blood screening tests the greatest specificity was achieved using citrated or oxalated blood and room temperature incubation (23°). Defibrinated whole blood should not be used since "false positive" hemolysis may occur in blood disorders other than PNH. Mechanisms were suggested for this phenomenon. The validity of the confirmatory sucrose hemolysis test employing normal serum was further reported. Because of the clear, colorless character of serum-sucrose mixtures, an insignificant degree of hemolysis (i.e., less than 5%) is more readily visible than in other PNH hemolytic tests employing undiluted serum. Definitive instructions and criteria for interpretation were given for both the whole blood screening test and the confirmatory sucrose hemolysis test.


1987 ◽  
Vol 54 (4) ◽  
pp. 563-569 ◽  
Author(s):  
A. K. Pratinidhi ◽  
Usha Shah ◽  
V. S. Bapat

PEDIATRICS ◽  
1966 ◽  
Vol 37 (1) ◽  
pp. 102-106
Author(s):  
Helen K. Berry ◽  
Betty S. Sutherland ◽  
Barbara Umbarger

THE American Academy of Pediatrics Committee on Fetus and Newborn recently recommended that a blood test for elevated concentration of phenylalanine be performed for all newborn infants prior to discharge. As results become available from wide application of blood screening tests, a number of questions have arisen regarding the interpretation of positive findings of elevated blood phenylalanine levels. Some reports suggest that diagnosis of phenylketonuria is determined by elevation of blood phenylalanine. The conclusion may be erroneously drawn that such a finding in an infant calls for immediate treatment with a low-phenylalanine diet. There are instances in which children were fed a phenylalanine restricted diet for periods up to 18 months and subsequently were proven not to have phenylketonuria. In another study plasma phenylalanine levels up to 40 mg/100 ml in a premature infant, accompanied by elevation of tyrosine, were shown not to result from phenylketonuria. Some investigators urge that tests for urinary metabolites characteristic of phenylketonuria be a necessary part of the diagnosis, while others consider urine testing of little value. The cause for the mental defect in phenylketonuria has not been established with certainty. No satisfactory explanations have been proposed to account for the rare individuals with normal intelligence and biochemical phenylketonuria. It is not known whether elevation of phenylalanine from disorders other than phenylketonuria might result in mental impairment. We have carried on a broad-scale urinescreening program since 1958 and a bloodscreening program since 1961. At the same time we have accumulated 70 patient years of experience in treatment of phenylketonuria.


Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 5442-5442
Author(s):  
Lucia Silla ◽  
Alessandra Paz ◽  
Claudia Astigarraga ◽  
Alethea Zago ◽  
Caroline Brum ◽  
...  

Abstract We report the case of a 12 year old girl admitted to the hospital in August 2004 presenting acute hepatic failure with grade IV encephalopathy without stigmatic of chronic liver disease. Investigation for A, B and C hepatitis was negative as well as the tests for HIV, Toxoplasmosis, EBV, B19 parvovirus and CMV. Diagnosed as fulminant hepatitis she received an ortotopic hepatic transplant 25 days after admission. She had an excellent clinical recovery on tracolimus for immunossupression, except for an asymptomatic pancytopenia unresponsive to drug dose reduction, which progressed to severe bone marrow aplasia in a four months period. A second round of virus screening tests was still negative. She was then submitted to bone marrow transplantation from her twin identical sister utilizing 50mg/kg/day of cyclophosphamide for two days as conditioning regimen. She received 6.6 x 106 CD34+ cells/kg and engrafted at D+22. She was discharged at D+ 33 on tracolimus without any sign of liver or bone marrow rejection. She is presently in complete clinical recovery after 7 months of BMT. This is, from our knowledge, the first report of a successful hepatic transplant followed by an equally successful syngeneic bone marrow transplant.


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