ESPE Abstracts (2014) 82 P-D-2-2-299

ESPE2014 Poster Category 2 Bone (1) (12 abstracts)

Mutation in the TBCE Gene Associated with Kenny-Caffey Type 1 Syndrome: a Rare Cause of Hypocalcemia

Bensalah Meriem a , Bouzidi Fatma Zohra a , Véronique Beauloye b , Hoyos Maria Garcia c & Kemali Zahra a

aCentral Hospital of Army, Algiers, Algeria; bClinique Universitaire Saint-Luc, Bruxelles, Belgium; cMedical Genetic Department, Valencia, Spain

Background: Kenny-Caffey syndrome type 1 is a rare autosomal recessive syndrome caused by mutation in the TBCE gene (Tubulin specific chaperone E) located in the chromosome region 1q42-q43. Less than 60 cases have been reported in the literature especially in the Middle East and Arabic countries. This syndrome is characterized by growth retardation, dysmorphic features, with thickened bone cortex and medullary stenosis, hypoparathyroidism, teeth anomalies. Hypopituitarism with pituitary hypoplasia may be associated.

Case report: A 3-year old Algerian girl was referred to pediatric endocrinology unit for etiological research of hypocalcemia. Her birth weight was 1370 g. At the 72 h of birth she has been admitted in intensive unit for hypocalcemia which has been related to prematurity. At 13 months, she developed seizures and hypocalcemia was detected with total calcium 6.8 mg/dl, serum parathormone (PTH) level was low: 2.8 ng/ml. She has been treated with calcium and vitamin D. On examination she has severe growth retardation weight was 6 kg(<−3DS), normal mentality height 65 cm (<−3DS), dysmorphic face with microcephaly, deep-set eyes with hypermetropia, peaked nose, thin lips, micrognathia, low set ears, microdontia, enamel defects and caries. She has normal total calcium: 2.38 mmol/l under calcium and vitamin D supplements, IGF1: 8.3 ng/ml, glucagon test showed low GH secretion with pic of 5.23 mUI/l. Radiological findings showed internal cortical thickening and medullary stenosis of the tubular bones. Pituitary MIR showed pituitary hypoplasia. Variant c.155_166del in the TCBE gene has been identified in homozygosity, which is predicted to cause at protein level, an in frame shift deletion of four aminoacids (p.ser52_gly55del) which is compatible with the clinical diagnosis of Kenny-Caffey syndrome.

Conclusion: Kenny-Caffey syndrome is a rare cause of hypocalcemia. The association of severe short stature, dysmorphic face, teeth abnormalities and bone dysplasia must guide us to suggest the diagnosis especially in the Middle Eastern and Arabic countries and confirm them genetically.

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