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

J Pediatr Endocrinol Metab. 2018 Apr 25;31(5):581-584. doi: 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: Sanjad-Sakati syndrome; TBCE; dysmorphism; primary hypoparathyroidism.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology
  • Anemia, Macrocytic / complications*
  • Anemia, Macrocytic / pathology
  • Child, Preschool
  • Failure to Thrive / etiology*
  • Growth Disorders / complications*
  • Growth Disorders / pathology
  • Humans
  • Hypoparathyroidism / complications*
  • Hypoparathyroidism / pathology
  • Intellectual Disability / complications*
  • Intellectual Disability / pathology
  • Male
  • Osteochondrodysplasias / complications*
  • Osteochondrodysplasias / pathology
  • Prognosis
  • Seizures / complications*
  • Seizures / pathology

Supplementary concepts

  • Hypoparathyroidism-retardation-dysmorphism syndrome