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Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan

Salma A. Ajarmeh and Eyad M. Al Tamimi

Abstract

Backgorund:

Sanjad-Sakati syndrome (SSS) is a rare autosomal recessive disease caused by a deletion mutation (155–166del) in exon 3 of the TBCE gene on chromosome 1q42-43. The syndrome is characterized by primary hypoparathyroidism, typical dysmorphic features and severe growth retardation.

Case presentation:

We encountered a 2-year-old boy with hypocalcemia, failure to thrive and macrocytic anemia. The patient had the characteristic features of SSS and genetic testing confirmed that he was homozygous for the TBCE mutation. Although malabsorption was initially considered the cause of his symptoms, the results did not confirm that diagnosis. Our patient had cow milk protein allergy and folic acid deficiency, which has not been described in previous SSS cases. It was difficult to treat the patient’s hyperphosphatemia and we ultimately selected sevelamer treatment, which was tolerated well and improved his hypocalcemia.

Conclusions:

SSS should be considered in the differential diagnosis of any infant with hypocalcemia, dysmorphism and failure to thrive.


Corresponding author: Salma A. Ajarmeh, MD, Assistant Professor, Department of Pediatrics, Faculty of Medicine, Mutah University, 61710 Karak, Jordan

Acknowledgments

We thank Editage (www.editage.com) for editing and publication support.

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

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Received: 2017-8-17
Accepted: 2018-1-8
Published Online: 2018-3-1
Published in Print: 2018-5-24

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