Endocrine Abstracts

Introduction: The 22q11.2 deletion syndrome or DiGeorge syndrome (DGS) is rare and the diagnosis in adults is uncommon. The phenotype is highly heterogeneous and of variable severity, including hypoparathyroidism and epilepsy.

Case Report: A 26-year-old man was admitted in the emergency room for inaugural tonic-clonic seizure. He had history of cognitive impairment and learning difficulties. Neurologic examination, brain CT and basic analysis were irrelevant. He was started on an anti-epileptic drug. He was followed up in Neurology and Internal Medicine outpatient clinic. Brain MRI was normal. Electroencephalography showed generalized epilepsy. Laboratory tests revealed total Ca²⁺ 5.7 mg/dl [8.9-10.0], P- 5 mg/dl [2.3-4.7], PTH 8.4 pg/ml [15.0-68.3] and 25-OHD 14 ng/ml. He was started on oral calcium and cholecalciferol supplements with no improvement. At the age of 30, he was referred to the Endocrinology clinic. Accompanied by his mother, he had no history of cervical surgery or irradiation, heart disease or recurrent infections. He had dental plaque due to enamel hypoplasia and had had surgery for spastic flat feet. Family history was irrelevant. He had significant difficulty in noticing typical symptoms of hypocalcemia, but he admitted frequent paresthesia and tiredness in lower limbs since childhood. He had slight facial dysmorphia and normal stature. He was hemodynamic stable, and Trousseau’s sign was present. He was started on calcitriol and calcium supplements were adjusted. Symptoms improved for the first time and blood tests revealed clear analytical improvement. Anti-epileptic medication was stopped without new seizures. The remaining study showed normal 24-hour urine calcium, intermediate hyperglycemia and autoimmune thyroiditis; morning cortisol, total testosterone and femur radiographs were normal. The suspicion of DGS was confirmed by genetic study. Complementary evaluation documented mild aortic insufficiency, and there was no evidence of kidney or ophthalmologic alterations. Skin lesions were evaluated by Dermatology and psoriasis and generalized candidiasis were diagnosed. During follow-up, due to poor therapeutic adherence, serum calcium levels have been below target. Currently, however, adherence has improved with maternal support (total Ca²⁺ 8.24 mg/dl).

Discussion: We report a case of DGS diagnosed in the context of a seizure in an adult, but with systemic manifestations since childhood in addition to hypoparathyroidism. We highlight the role of Endocrinology in the correct diagnosis and treatment of this complex patient, with control of hypocalcaemia and its complications and guidance for other comorbidities that also require chronic multidisciplinary follow-up.