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

Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan AbstractBackgorund: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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Pediatric Endocrinology and Metabolism de Gruyter

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

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Publisher
de Gruyter
Copyright
©2018 Walter de Gruyter GmbH, Berlin/Boston
ISSN
2191-0251
eISSN
2191-0251
D.O.I.
10.1515/jpem-2017-0317
Publisher site
See Article on Publisher Site

Abstract

AbstractBackgorund: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.

Journal

Journal of Pediatric Endocrinology and Metabolismde Gruyter

Published: May 24, 2018

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