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. 2023 Apr 11;85(5):2081-2084.
doi: 10.1097/MS9.0000000000000506. eCollection 2023 May.

Thrombocytopenia with absent radii syndrome with delayed presentation of thrombocytopenic episodes: a case report

Riffa Alassri  1   2 , Nafiza Martini  2   3 , Razan Othman  2   3 , Hazem Kamil  2   3 , Jaber Mahmoud  3
Affiliations

Thrombocytopenia with absent radii syndrome with delayed presentation of thrombocytopenic episodes: a case report

Riffa Alassri et al. Ann Med Surg (Lond). .

Abstract

Bilateral radii aplasia with the presence of both thumbs and episodes of low platelets count are the main characteristics of thrombocytopenia with absent syndrome, which is an unusual birth disorder, with an incidence of 0.42\100 000 population.

Case presentation: The authors reported a case of a 6-month-old baby girl who experienced thrombocytopenia at the age of 6 months for the first time, as a result of cow's milk being introduced for 45 days with chronic diarrhea and growth failure. She had a deviation of the axis of the hand laterally, and a bilateral absent of radii with the presence of both thumbs. In addition, she had abnormal psychomotor development, marasmus case manifestations.

Conclusions: Our aim in publishing the current case report is that clinicians caring for patients with thrombocytopenia with absent syndrome will be aware of the myriad of complications, which may occur in the other organ systems so that they can promptly diagnose and treat any associated abnormalities.

Keywords: TAR syndrome; case report; congenital disorder; cow’s milk protein allergy; thrombocytopenia.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Figure 1
Figure 1
Physical examination shows loose skin folds, baggy pants sign, visible loss of fat, and muscle which suggest a Marasmus case.
Figure 2
Figure 2
X-rays of the upper limbs demonstrated bilateral absence of the radii.
Figure 3
Figure 3
Normal X-rays of the lower limbs.
See this image and copyright information in PMC

References

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