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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Toppari, Jorma / Turan, Serap Demircioglu


IMPACT FACTOR 2018: 1.239

CiteScore 2018: 1.22

SCImago Journal Rank (SJR) 2018: 0.507
Source Normalized Impact per Paper (SNIP) 2018: 0.562

Online
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2191-0251
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Volume 31, Issue 5

Issues

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

Salma A. Ajarmeh / Eyad M. Al Tamimi
  • Pediatric Department, Faculty of Medicine, Jordan University of Science and Technology, Irbid, Jordan
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2018-03-01 | DOI: https://doi.org/10.1515/jpem-2017-0317

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.

Keywords: dysmorphism; primary hypoparathyroidism; Sanjad-Sakati syndrome; TBCE

References

  • 1.

    Sanjad S, Sakati N, Abu-Osba Y. Congenital hypoparathyroidism with dysmorphic features-a new syndrome. J Pediat 1988;23:271A.Google Scholar

  • 2.

    Richardson RJ, Kirk JM. Short stature, mental retardation, and hypoparathyroidism: a new syndrome. Arch Dis Child 1990;65:1113–7.PubMedCrossrefGoogle Scholar

  • 3.

    Sanjad S, Sakati N, Abu-Osba Y, Kaddoura R, Milner R. A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. Arch Dis Child 1991;66:193–6.CrossrefPubMedGoogle Scholar

  • 4.

    Parvari R, Hershkovitz E, Kanis A, Gorodischer R, Shalitin S, et al. Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43. Am J Hum Genet 1998;63:163–9.PubMedCrossrefGoogle Scholar

  • 5.

    Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, et al. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet 2002;32:448–52.CrossrefPubMedGoogle Scholar

  • 6.

    Albaramki J, Akl K, Al-Muhtaseb A, Al-Shboul M, Mahmoud T, et al. Sanjad Sakati syndrome: a case series from Jordan. East Mediterr Health J 2012;18:527–31.PubMedCrossrefGoogle Scholar

  • 7.

    Naguib K, Gouda S, Elshafey A, Mohammed F, Bastaki L, et al. Sanjad–Sakati syndrome/Kenny–Caffey syndrome type 1: a study of 21 cases in Kuwait. East Mediterr Health J 2009;15:345–52.PubMedCrossrefGoogle Scholar

  • 8.

    Caffey J. Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs-Mother and son; coupled with transitory hypocalcemic tetany. Am J Roentgenol Radium Ther Nucl Med 1967;100:1–11.PubMedCrossrefGoogle Scholar

  • 9.

    Storms L, Chicella M, Dice J. Sevelamer therapy for pediatric end-stage renal disease. Pharmacotherapy 2006;26:410–3.CrossrefPubMedGoogle Scholar

  • 10.

    Kahlon DK, Dinand V, Yadav SP, Sachdeva A. Sevelamer is an effective drug in treating hyperphosphatemia due to tumor lysis syndrome in children: a developing world experience. Indian J Hematol Blood Transfus 2014;32:78–82.PubMedWeb of ScienceGoogle Scholar

About the article

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


Received: 2017-08-17

Accepted: 2018-01-08

Published Online: 2018-03-01

Published in Print: 2018-05-24


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

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

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.


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 31, Issue 5, Pages 581–584, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2017-0317.

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