ESPE Abstracts (2015) 84 P-3-827

The Pathway to the True Diagnosis

Rositca Stoycheva


Medical University of Varna, Varna, Bulgaria


Case presentation: A 3 year old girl was admitted with the diagnosis of acute interstitial nephritis from the family doctor directly to our tertiary hospital. As an out-patient, the girl was treated with antibiotics with no result. She had polydipsia accompanied by day-time and night-time polyuria and enuresis that developed 2 weeks before admission. During the last year the girl showed increased appetite and escalating weight gain. At admission, her height was +3.5 SDS, weight was +2 SDS and BMI +3 SDS for age and sex. We diagnosed central diabetes insipidus (CDI) and she started treatment with Desmopressin. At first hormonal evaluation the patient had bilateral macular oedema and elevated levels of prolactin. MRI revealed one supraselar mass with a second mass in the right orbit, accompanied with lytic lesion of the zygomatic bone. The radiological diagnosis was ‘Pituitary tumour’. The differential diagnosis included tumours with multiple sites development. The clinical presentation with CDI pointed at the possibility of Langerhans cell histiocitosis (LCH). Patients with LCH lesions of the facial bones or anterior/middle cranial fossae with a concurrent intracranial mass have a threefold increased risk of developing CDI. The histological result from pituitary surgical biopsy revealed eosinophilic granuloma. This confirmed the diagnosis of LCH. The patient started chemotherapy according to the established current protocol. Despite our efforts to decrease the weight gain velocity, the girl put on further 12 kg of weight since the therapy start (current height +3 SDS, weight +5.5 SDS, BMI +5 SDS).

Conclusion: The frequent initial presentation of intracranial benign and malignant tumours to the Pediatric Endocrinologist requires step-wise multidisciplinary approach for ensuring better outcome.

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