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.
Acknowledgments
We thank Editage (www.editage.com) for editing and publication support.
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.
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Articles in the same Issue
- Frontmatter
- Review
- Review and evaluation of patient-centered psychosocial assessments for children with central precocious puberty or early puberty
- Mini Review
- Childhood obesity: how long should we wait to predict weight?
- Original Articles
- Glycated hemoglobin A1c as a screening test for detecting type 2 diabetes mellitus in obese children and adolescents
- Effect of a multidisciplinary treatment program on eating behavior in overweight and obese preschool children
- Cord blood klotho levels are inversely associated with leptin in healthy Latino neonates at risk for obesity
- Still too little, too late? Ten years of growth hormone therapy baseline data from the NordiNet® International Outcome Study
- Body composition and metabolic health of young male adults with childhood-onset multiple pituitary hormone deficiency after cessation of growth hormone treatment
- Hematuria as an adverse outcome following provocative growth hormone stimulation testing in children
- Bone mineral density comparison of adolescents with constitutional thinness and anorexia nervosa
- Adult height in patients with familial male-limited precocious puberty and the role of an aromatase inhibitor in patient management
- Association between UCP polymorphisms and adipokines with obesity in Mexican adolescents
- Impact of childhood type 1 diabetes on maternal work-family relations
- Case Reports
- Hyperthyroidism in an infant of a mother with autoimmune hypothyroidism with positive TSH receptor antibodies
- Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan
- In iodine-induced thyrotoxicosis, steroid therapy today could keep the surgical knife at bay
- Graves’ disease following allogenic hematopoietic stem cell transplantation for severe aplastic anemia: case report and literature review
