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

Journal of Pediatric Endocrinology & Metabolism : JPEM
Salma A Ajarmeh, 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. 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. SSS should be considered in the differential diagnosis of any infant with hypocalcemia, dysmorphism and failure to thrive.

References

Oct 1, 1990·Archives of Disease in Childhood·R J Richardson, J M Kirk
Feb 1, 1991·Archives of Disease in Childhood·S A SanjadR D Milner
Oct 22, 2002·Nature Genetics·Ruti ParvariUNKNOWN HRD/Autosomal Recessive Kenny-Caffey Syndrome Consortium
Mar 1, 2006·Pharmacotherapy·Lara E StormsJames E Dice
Jul 7, 2012·Eastern Mediterranean Health Journal = La Revue De Santé De La Méditerranée Orientale = Al-Majallah Al-ṣiḥḥīyah Li-sharq Al-mutawassiṭ·J AlbaramkiH Hamamy
Feb 9, 2016·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·Dilraj Kaur KahlonAnupam Sachdeva

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