Endocrine Abstracts

Sarcoidosis can be a multi-system granulomatous disorder usually seen in adults. Paediatric sarcoidosis is rare and can be associated with varied presentations. We present the case of an unusual presentation of sarcoidosis in a 12-year-old girl who attended with an enlarging neck swelling, hypercalcaemia and worsening renal function. Most reported cases in the Paediatric population are multi-organ and affect the lungs, liver and lymphatic system. Renal involvement with Paediatric Sarcoidosis is exceedingly rare and there is a paucity of reported cases.

Description and Discussion: The history reported was of an enlarging neck swelling for over a year at the time of presentation. On examination she had a large goitre which was symmetrical and smooth. No proptosis/exophthalmos was noted. She was initially reviewed by the GP and blood tests revealed an elevated TSH (61.78), low Free T4 (8.6), low Vitamin D (32) and normal Ferritin. TPO and Thyroglobulin Antibodies were negative. She was started on treatment with Thyroxine. In the interim she had routine blood tests which revealed an AKI. Renal function was noted to be deranged (Cr 139). A renal scan was arranged for her which was reported as an increase in cortical reflectivity. This was discussed with the tertiary renal team and was felt to be echogenic with no evidence of cysts. She was then admitted with worsening renal function (Cr 224) and hypercalcaemia (cCa 3.58) and was commenced on hyperhydration. An FNAC biopsy revealed non-necrotising granulomatous inflammation. Angiotensin converting enzyme was elevated significantly (>200) as well as 1,25 dihydroxy-cholecaliferol (307 pmol/l). Investigations for Tuberculosis were negative. These investigations confirmed the diagnosis of Sarcoidosis.

Conclusion: Paediatric Sarcoidosis is rare and is not usually a differential in these cases. Based on uncertain aetiology and a small number of reported cases, children presenting with multisystem involvement and renal disease should be worked up for Sarcoidosis. The diagnosis is also difficult to make as children are often missed or the work up is delayed and there is no consensus on the criteria for diagnosis. In this case, a biopsy and an increased ACE level pointed towards the correct diagnosis.