ESPE Abstracts

A 6 year and 11 month -old girl of a Consanguineous parent. Her family history : has 2 sibling deaths in the neonatal period. her perinatal history :C/S, full term, NICU admission on the 5th day of birth due to vomiting and had generalized hyperpigmentation (external genitalia and skin with No atypical genitalia, her labs revealed hypoglycemia, hyponatremia and hyperkalemia, and her hormonal profile revealed sky high ACTH 2745 pg/ml (N.7.2-63.3 pg/ml), low cortisol 2 ug/dl (N. 1-33 ug/dl), 17(OH) progesterone was slightly high and was diagnosed as adrenal insufficiency till childhood when she developed seizures (Generalised tonic clonic seizures), her EEG showed epileptiform activity and the MRI brain revealed chiari I malformation, and she was still managed as adrenal insufficiency till all her diagnosis revised clinically and laboratory and genetically; her WES revealed Lipoid CAH.

Conclusion: our case had a unique association of lipoid CAH and chiari I malformation Øchiari I malformation