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Severe hypercalcaemia in an infant
  1. María Julia Martín1,
  2. Kelly Maury Fuentes2,
  3. María Belén Novoa Díaz1,
  4. Gabriel Cao2,
  5. Graciela Gigola1,
  6. Oscar Brunetto2,
  7. Claudia Gentili1
  1. 1 INBIOSUR, Departamento de Biología, Bioquímica y Farmacia, Universidad Nacional del Sur (UNS)-CONICET, Bahía Blanca, Argentina
  2. 2 División Endocrinología, Hospital General de Niños Pedro de Elizalde, Buenos Aires, Argentina
  1. Correspondence to Dr Claudia Gentili, INBIOSUR, Departamento de Biología, Bioquímica y Farmacia, Universidad Nacional del Sur (UNS)-CONICET, San Juan 671, 8000, Bahía Blanca, Argentina; cgentili{at}criba.edu.ar

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Clinical presentation

A 3-month-old male patient arrived at Children’s Hospital ‘Dr. Pedro de Elizalde’ (Buenos Aires, Argentina) with irritability, rejection of food and altered neurobehavioral development. An abnormal mass was found in the right flank on palpation of the abdomen.

Laboratory investigations

Laboratory tests showed high concentrations of total serum calcium: 6.24 mmol/L (range of normal values in this age group: 2.20–2.82 mmol/L); low concentrations of parathormone (PTH): 0.175 pmol/L (normal 1.06–7.42 pmol/L) and phosphorus: 0.935 mmol/L (normal: 1.55–2.39 mmoL). Vitamin D measurements of 25(OH) showed normal values (63 nmol/L), considering the age group, where the vitamin D insufficiency is defined in the range of concentrations between 30 nmol/L and 50 nmol/L. Other laboratory test values, including blood cell count, were within normal limits.

He was hydrated and initially treated with pamidronate and calcitonin but hypercalcaemia did not revert.

Further investigations

Imaging-based procedures

Abdominal ultrasound and computed axial tomography images (figure 1A) revealed a retroperitoneal heterogeneous complex mass located between the liver and the right kidney, with variable pattern and calcifications, measuring 0.1×0.06×0.06 m. Both kidneys and adrenal glands preserved normal anatomical structure, the spleen was homogeneous. This type of lesion was not observed in other organs or tissues and no free liquid was found. Diagnostic angiography evidenced a highly vascularised tumour, irrigated by the middle colic artery (figure 1B).

Figure 1

Clinical procedures for the diagnosis and treatment of the patient (A–C). (A) Computed axial tomography, (B) angiography and (C) tumour mass removed by surgical resection. Analysis of the tumour tissue biopsy (D–I). (D) Typical morphology of neoplastic cells coexisting with peripheral inflammatory infiltrates and (E) intracytoplasmic vacuoles representing small vascular lumina (black arrows) (H&E and PAS, 400×). (F) Reticulin expression (Gordon & Sweets reticulin stain, 400×). Expression of (G) vimentin and (H) CD31 (immunohistochemistry, 400×). (I) Immunostaining for Ki 67 (immunohistochemistry, 400×).

Histology revealed spindle to polygonal-shaped neoplastic cells with abundant eosinophilic cytoplasm, arranged in …

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Footnotes

  • Handling editor Tahir S Pillay.

  • MJM and KMF contributed equally.

  • Contributors All authors have contributed in (1) the conception or design of the work, or the acquisition, analysis or interpretation of data; (2) drafting the work or revising it critically for important intellectual content.

  • Funding This work was supported by grants from the Agencia Nacional de Promoción Científica y Tecnológica (ANPCYT) (PICT-2013-1441), Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET) (PIP11220150100350), Instituto Nacional del Cáncer (Asistencia Financiera III-2016-2017, RESOL-2016-1006-E-APN-MS) and Universidad Nacional del Sur (PGI: 24/B188; PGI: 24/B230), Argentina.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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