A 14-year-old boy who presented with nausea, vomiting, and weight loss (~6 kg within 1 month) was admitted to the Department of Pediatric Gastroenterology with the suspicion of acute gastritis. The patient denied previous vitamin D supplementation or sun exposure.
Clinical examination at the time of admission revealed malaise, pallor, and abdominal tenderness in the epigastric area at palpation. The patient weighed 50 kg.
A complete blood count revealed an elevated level of hemoglobin (15.7 g/dL) and mild thrombocytosis (518,000/muL) along with an elevated erythrocyte sedimentation rate (23 mm/h). Biochemical blood analysis showed high levels of creatinine (156.5 mumol/L) and urea (22.35 mmol/L), along with hypercalcemia (total serum calcium 3.66 mml/L, serum ionized calcium 1.77 mmol/L). A qualitative test performed from a urinary sample proved hypercalciuria, and the routine urine examination revealed microscopic hematuria (10 erythrocytes per field). Renal ultrasound revealed a right ectopic kidney without any associated pathological findings in terms of kidney morphology and structure. We consulted an endocrinologist, who ruled out any associated conditions. An upper digestive endoscopy demonstrated intense hyperemia and edema of the gastric mucosa, and pathological examination of the gastric biopsies established the diagnosis of Helicobacter pylori-induced gastritis. This was treated according to the standard guidelines, using double-antibiotic regimen (amoxicillin and clarithromycin) that influences proton pump inhibitors. The elevated levels of urea and creatinine were initially interpreted as signs of prolonged dehydration; however, despite proper intravenous fluid administration, they remained above the normal range. Thus, we decided to perform thoracic and abdominal CT. Thoracic CT revealed giant hilar and mediastinal lymphadenopathies (Figure 1), multiple micronodules (Figure 2) within the lung parenchyma, and ground-glass opacities (Figure 3), which raised the suspicion of SD, without ruling out tuberculosis or lymphoma, whereas the abdominal scan confirmed the ultrasound findings showing only a right ectopic kidney. We found an elevated level of ACE (244.3 U/L), normal level of parathormone (15.1 pg/mL), and decreased levels of 1,25-(OH)2 vitamin D (14.75 ng/mL). The cardiologic and ophthalmologic examinations were normal. Additional tests, such as peripheral smear, protein electrophoresis, human immunodeficiency virus serology, and serum copper were performed in order to rule out other conditions that evolve with lung and lymph node impairment. In order to confirm our suspicion of SD, a bronchoscopy with bronchial biopsy and open surgery with lung and mediastinal biopsies were performed because an endobronchial ultrasound approach was not possible. The pulmonary function tests performed prior to the bronchoscopy were within normal ranges. The pathological examination revealed multiple non-caseating granulomas in all the biopsy specimens, which established the diagnosis of SD.
We initiated the treatment with oral administration of prednisone at a loading dose of 1 mg/kg per day, that is, 50 mg/d, with tapering doses for 2 months, while considering the improvement in the patients' symptoms after the first week of therapy and findings of the blood tests after ~2 weeks.
The patient's follow-up for ~6 months after the cessation of corticosteroid administration revealed favorable clinical outcome with normal results of all blood tests, inclusively renal function parameters, and normal ACE levels. Moreover, the chest X-ray showed no enlarged lymph nodes and a normal aspect of the lung parenchyma (Figure 4).
CT aspect of lung micronodules.