hrp0095p1-431 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Kenny-Caffey Type 2 syndrome (KCT2S) as a rare cause of hypoparathyroidism causing neonatal seizures

Granzotto Marguerite , Weitzel Christina , Scalais Emmanuel , Becker Marianne

We report a male patient born small for gestational age (birth weight 2090 g, -2.97 SDS; birth length 43.5 cm, -3.37 SDS), with dysmorphic features (triangular face, low-set, posteriorly rotated ears, pectus excavatum, large anterior fontanel) who presented with seizures at the age of 4 weeks. The child was treated with antiepileptic drugs (Levetiracetam, Midazolam, Phenobarbital, carbamazepine) for 1 year until a severe hypocalcemia (Calcium 6.4 mg/dl, ionised calcium 0.78 mm...