Injury Extra (2007) 38, 215—218

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CASE REPORT

Insufficiency fracture of the ilium associatedwith thrombocytopenia and absentradius (TAR) syndrome

Riaz Ahmad *, Steve Pope

Department of Orthopaedics, Royal United Hospital, Bath BA1 3PF, UK

Accepted 27 September 2006

Introduction

TAR syndrome is an autosomal recessive disorderwith persistent findings of thrombocytopeniaand bilateral absence of radii with presence ofthumbs (Fig. 1). The anomalies that have beendescribed are ulnar hypoplasia, malformedhumeri, leucocytosis, tetralogy of Fallot, atrialseptal defect, ventricular septal defect and milkprotein allergy.11 There is one reported case of TARsyndrome associated with congenital absence ofuterus and vagina,7 but no reported case withabsent ovary.

Insufficiency fracture occurs when a moderate ornormal force is applied to a bone which hasdecreased resistance. The fracture occurs in a bonewhich has become fragile. This type of fractureparticularly affects the elderly and is most commonin the pelvis.

Our patient with TAR syndrome has absent ovaryand insufficiency fracture of the ilium which we linkto the oestrogen deficiency.

* Corresponding author at: Weston General Hospital, Depart-ment of Trauma and Orthopaedics, Weston-super-Mare BS23 4TQ,UK. Tel.: +44 1932 624 932.

E-mail address: riazkanth@yahoo.co.uk (R. Ahmad).

1572-3461/$ — see front matter # 2006 Elsevier Ltd. All rights resedoi:10.1016/j.injury.2006.09.023

Case report

A 23 years old woman with TAR syndrome presentedto the Accident and Emergency department withcomplaints of inability to weight bear and painfulleft upper thigh following giving way of left kneewhilst shopping. There was no history of directtrauma or fall. She had a significant past medicalhistory of primary amenorrhea.

The relevant examination revealed tendernessover the left iliac wing and the left groin withinability to do a straight leg raise.

The inlet and outlet views of the pelvis revealedfracture of the left iliac wing (Figs. 2 and 3). USG didshow absence of the uterus and the ovaries (Fig. 4).MRI scan (Figs. 5 and 6) revealed an absent uterusand right ovary. Chromosomal analysis revealed anormal female karyotype. The patient receivedconservative treatment including non-weight bear-ing and analgesia. We followed up the patient andshe is now weight bearing pain free and her recentradiographs showed healing of the fracture.

Discussion

TAR syndrome was first described by Hauser in1948.10 Gross et al. in 1956 described it as a group

rved.

216 R. Ahmad, S. Pope

Figure 1 Radiograph showing absent radius and aradially deviated hand.

Figure 2 Radiograph showing fracture of the left iliacwing.

Figure 3 Radiograph showing fracture of the left iliacwing.

of limb abnormalities including absent radii, ulnarhypoplasia and malformed humeri with hypomaga-karyocytic thrombocytopenia.8 In 1969 Hall et al.9

described it as a condition with hypomagakaryocyticthrombocytopenia, bilateral absent radii, shorten-ing of ulna and presence of five digits in radiallydeviated hands.

Ovarian agenesis in the TAR syndrome is a newfinding and can lead to gonadal hormone insuffi-ciency (oestrogen) which in turn can cause an insuf-ficiency fracture. Although the insufficiencyfractures are seen in the old women with postmenopausal osteoporosis,3 other risk factors areosteomalacia, rheumatoid arthritis, hyperparathyr-oidism, fluoride intake, irradiation, osteogenesisimperfecta and mechanical factors.3

The risk factor for bone loss includes endocrino-pathy.15

Although the low bone mass and the structuraldeterioration of the bone tissue occurs primarily as aresult of ageing, but can also occur due to delayedpuberty or excessive bone loss during adulthood dueto oestrogen deficiency.13

Oestrogen deficiency is known to play a key rolein the bone loss.14 In 1940, Albright described thatimpaired bone formation was due to oestrogen defi-ciency.1 Measurement of biochemical markers indi-cated that bone remodelling is increased atmenopause5 and thus contrary to Albright’s hypoth-esis an increase in bone resorption and not impairedbone formation is a driving force for bone loss in thesetting of oestrogen deficiency. Further, increasedbone formation that normally occurs in response to

Insufficiency fracture of the ilium associated with TAR syndrome 217

Figure 4 USG showing absent uterus and ovaries.

Figure 6 MRI scan showing absent right ovary anduterus.

mechanical loading is diminished in oestrogen defi-

ciency.12

Insufficiency fracture of the ilium is rare and thecommon sites are sacrum and the pubic rami. Daviesand Bradley4 described three types of insufficiencyfractures of the ilium. Type 1 is an oblique alar typewhich extends from greater sciatic notch and runsupwards and laterally through the iliac wing. Type 2is the superomedial type where the fracture runsparallel to the sacro iliac joint and type 3 is thesupra-ace tabular type in which the fracture lineruns above the acetabulum. Our patient had thetype 3.

Figure 5 MRI scan shows absent uterus and right ovary.

The long-term implications of ovarian agenesisare:

A higher risk of developing Alzheimer’s diseasethan men due to oestrogen deficiency in thebrain.Higher risk of cerebral aneurysm due to oestrogendeficiency as the latter has beneficial effects onthe function and growth of endothelial cells,which play a major role in preservation of theintegrity of the vascular wall.Risk of cardiovascular disease, as oestrogen has aprotective effect on lipid, glycidic metabolismand vessel function. It has a vasodilator effectdue to nitric oxide release and an anti prolifera-tive effect on the smooth muscle cells in thevessel wall.Oestrogen deficiency causes increased smoothmuscle proliferation leading to increased sys-temic vascular resistance and thus hypertensionwhich in turn is the most frequent related factorto coronary artery disease.Early diagnosis is very vital to establish the needfor elimination of weight bearing which usuallysuffices to ensure a favourable outcome. We alsodo recommend the treatment of such a patientwith hormonal therapy such as the oestrogenreplacement therapy.Initiation of the oestrogen therapy decreaseserosion depth and the osteoclastic activationfrequency by stimulating apoptosis and blockingosteoclastogenesis. It also blunts bone resorptionand stimulates bone formation.16

218 R. Ahmad, S. Pope

In summary this report describes association ofinsufficiency fracture of ilium due to oestrogendeficiency with TAR syndrome.

References

1. Albright F, Bloomberg E, Smith PH. Postmenopausal osteo-porosis. Trans Assoc Am Physicians 1940;55:298—305.

3. Daffner RH, Pavlov H. Stress fractures: current concepts. AJRAm Roentgenol 1992;159:245—52.

4. Davies AM, Bradley SA. Iliac insufficiency fractures. Br JRadiol 1991;64:305—9.

5. Ebeling PR, Atley CM, Guthrie JR, et al. Bone turnovermarkers and bone density across the menopausal transition.J Clin Endocrinol Metab 1996;81:3366—71.

7. Griesinger G, Dafopoulos k, Shultze-Mosqau A, et al. Mayer-Rokitansky-Kuster-Hauser syndrome. Fertil Steril 2005;83:452—4.

8. Gross H, Groh C, Weippl G. Kongenitale hypoplastischethrombopenie mit radialaplasie. Neue Osterr Z Kinderheikd1956;1:574.

9. Hall JB, Levin J, Kuhn JP, et al. Thrombocytopenia withabsent radius (TAR). Medicine 1969;48:411—39.

10. Hauser F. Uber hereditare und symptomatische congenitalethromboper. Paediatr (Basel) 1948;171:86—91.

11. Jones K. Smith’s recognizable patterns of human malforma-tion, 5th ed., Philadelphia: Saunders; 1997. p. 322—23.

12. Lee K, Jessop H, Suswillo R, et al. Endocrinology: boneadaptation requires oestrogen receptor-alpha. Nature2003;429:389.

13. Prevention and management of osteoporosis. World HealthOrgan Tech Rep Ser 2003;921:1—164.

14. Raisz LG. Pathogenesis of osteoporosis: concepts, conflicts,and prospects. J Clin Invest 2005;115:3318—25.

15. Soubrier M, Dubust JJ, Boisgard S, et al. Insufficiency frac-ture. A survey of 60 cases and review of the literature. JointBone Spine 2003;209—18.

16. Weitzmann MN, Pacifici R. Estrogen deficiency and bone loss:an inflammatory tale. J Clin Invest 2006;116:1186—94.