ESPE Abstracts

Introduction: Craniopharyngioma, a benign tumor, develops in the sellar/parasellar region. Diagnosis is usually late. Symptoms include severe headaches and vomiting, visual impairment, visual and olfactory hallucinations and at least one hormonal deficiency. Celiac disease is caused by an immune reaction triggered by gluten in the small intestine. Over time, due to inflammation, it causes malabsorbtion which can affect growth in children.

Case report: We present the case of a 15 years and 8 months old girl, diagnosed with short stature 3 years prior to presentation. Due to parental decision, she was not further investigated or treated. At 14, she was diagnosed with cataract. Clinically, the patient has a significant delay in growth (SDSt=-4.37). No signs of puberty. Pale skin. Normal bowl movements and diuresis. No signs of neurological impairment. Blood tests reveal a mild anemia and pituitary pluri-deficiency: low levels for IGF-1, cortisol, FSH, LH, estradiol, FT4 and “abnormally” normal values for ACTH, TSH. Stimulating tests for hGH and cortisol confirm pituitary insufficiency for both. Bone age corresponds a 13 year-old. The karyotype was 46, XX. Gastroenterology evaluation reveals an unexpected diagnosis of celiac disease (tTG IgA >10x, EMA>10x). Ophthalmological evaluation suggests an inflammatory etiology for her cataract (uveitis sequelae detected in the left eye). Eye fundus exam reveals a mildly discolored optic nerve papilla, with clear contour and no edema. The field of sight cannot be evaluated due to her impaired sight by the cataract. We perform a pituitary contrast MRI which shows a 50/30/23 mm tumor in the sellar region, with the aspect of a craniopharyngioma. Neurosurgery evaluation confirms the suspicion and recommends surgical excision. Surgery is scheduled for July 2022, due to family request. Substitution therapy is initiated with Levothyroxine, Hydrocortisone and Estradiol. Prophylactic anticonvulsivant medication is recommended until surgery. Gluten-free diet is initiated.

Conclusions: Short stature, especially when associated with pubertal delay, can have multiple etiologies which do not exclude each other. When there are no neurological or ocular symptoms, cranyiopharingioma can be a very late diagnosis. In short stature cases which associate anemia, gastroenterological evaluation is important, even if the patient does not have digestive symptoms. When specific antibodies are >10x higher than normal, biopsy is not needed for diagnosis of celiac disease. Growth hormone substitution can be administered only after complete resection of the craniopharyngioma. In our patient, we do not expect to recuperate much of the height deficit, due to the patient’s age.