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ENDGAMES:
Jenny S Radesky and Naomi F Sugar
Femur fracture in an infant
BMJ 2009; 338: b1583 [Full text]
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[Read Rapid Response] Investigating Fractures in Children
Michael D Innis   (19 May 2009)

Investigating Fractures in Children 19 May 2009
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Michael D Innis,
Medicolegal Consultant
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Re: Investigating Fractures in Children

Editor,

"Bruises of the thighs and even fracture of the femur have been recorded as arising from the gentle act of diapering a scorbutic infant" [1] and "old fractures can be discovered in infants only after radiographs are obtained for reasons other than an assessment of OI, "[2];

In brief, the two main reasons for a femoral or any fracture in an infant are:

1. Abnormality or insufficiency of collagen resulting from deficiencies of Vitamin C, Vitamin D or Copper, and the genetic abnormality Osteogenesis Imperfecta.[3]

2. Inadequacy of mineralization of collagen from a deficiency or abnormality of Vitamin K [4].

The History should include

1. Recent Vaccination - since vaccination may cause a precipitous fall in serum levels of Vitamin C in some children [5,6]

The Investigations should include:

1. Complete blood count since anaemia is frequently associated with malabsorption of essential Vitamins and minerals.

2. Coagulation Screen to detect a deficiency/abnormality of Vitamin K a. Prothrombin Time b, Protein Induced by Vitamin K Absence/Abnormality (PIVKA) c. APTT d. Liver Function Tests AST, ALT and Gamma GT, e. Under-carboxylated Osteocalcin

3. Tests for Vitamin C deficiency a. Measurement of intracellular vitamin C levels in human lymphocytes by reverse phase high performance liquid chromatography (HPLC). [7] b. Serum Tryptase [8] c. Serum Histamine. "Even mild ascorbate deficiency is associated with high blood histamine levels"[9] d. Serum Vitamin C

4. Tests to detect malabsorption and Vitamin D deficiency a. Serum Albumin ,Total proteins Calcium and Phosphorus. b Serum 25-hydroxy-vitamin D concentration c. Serum Alkaline Phosphatase.

5. Skin Biopsy and DNA tests and Serum Copper if Osteogenesis Imperfecta is suspected.[3,10]

Conclusion.

From an analysis of more than three dozen similar cases of children with fractures I conclude that the femoral fracture described in this case was the result of either Vitamin C or K deficiency or a combination of both. The results of the blood tests for these two deficiencies should confirm the diagnosis.

References:

1. Clemetson CAB. Vitamin C PDF file 1989 Boca Raton.Fla CRC Press Vol 2 p 71

2. Plotkin H, Pattekar MA. Caddiarelli AA. Osteogenesis Imperfecta http://emedicine.medscape.com/article/947588-overview

3. Jenny C, Committee on Child Abuse and Neglect. Evaluating infants and young children with multiple fractures. Pediatrics 2006 Sep;118

4 Innis MD. Vitamin K Deficiency Disease Jour Orthomol Med 2008;23:15-20

5. Clemetson CAB. Is It "Shaken Baby" or Barlow's Disease Variant? Jour Amer Phys & Surg.2004;78-80

6. Kalokerinos A Every Second Child. Foreword by Linus Pauling. Keating Publishing Inc 1981.

7. Emadi-Konjin,P,.,Verjee,Z, Levin AV,,,Adeli K..Clin Biochem. 2005 May;38(5):450-6.

8, Zinka B, Rauch E, Buettner A, Ruëff F, Penning R. Unexplained cases of sudden infant death shortly after hexavalent vaccination. Vaccine. 2006; Jul 26;24(31-32):5779-80.

9. Clemetson, CAB. Histamine and ascorbic acid in human blood, J. Nurr.,1980 110, 662.

10. Paterson CR, Burns J, McAllion SJ. Osteogenesis imperfecta: the distinction from child abuse and the recognition of a variant form. Am J Med Genet. 1993 Jan 15;45(2):187–192.

Competing interests: I have given Expert testimony in similar cases and been paid for my services.