A diagnostic enigma – the issue without the right tissue. — ASN Events
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A diagnostic enigma – the issue without the right tissue. (#8)

Nayomi D Perera 1 , Alexander Yao 1 , Angeline Shen 1 , Spiros Fourlanos 1
  1. Diabetes and Endocrinology, Royal Melbourne Hospital, Parkville, VIC, Australia

CO, a 52-year-old woman presented to hospital with two years history of intermittent headache, polydipsia, polyuria, amenorrhea, weight gain and a pruritic nodular rash.  She had a background of Type 2 diabetes and a recent diagnosis of primary sclerosing cholangitis.  A MRI brain organised by the GP revealed a left hypothalamus large ill-defined nodular lesion, extending along the left lateral wall of the third ventricle and into the caudate nucleus. The pituitary gland and infundibulum otherwise were reported to be normal. The patient was reviewed by Neurosurgery and deemed unsuitable for brain biopsy due to the high risk of developing hemiplegia.  She was subsequently investigated by Endocrinology for her polyuria and polydipsia. 

Inpatient water deprivation test confirmed central diabetes insipidus and she was commenced on desmopressin with good effect. Baseline pituitary panel performed demonstrated an elevated prolactin level: 1270mIU/L [RR: 110-560mIU/L] and hypogonadotropic hypogonadism (LH 0.1 IU/L and FSH 2.2 IU/L). The patient was also noted to have a PTH independent hypercalcaemia (cCa 2.85mmol/L, PTH 2.8mmol/L) raising the suspicion of an underlying malignant process. Extensive work up was then conducted. This included lumbar puncture which revealed mixed inflammation (glucose of 5.7g/L, total protein of 0.96g/L), but negative oligoclonal bands, culture and flow cytometry. Serum flow cytometry detected minor population (2%) of CD4 / CD8 co-expressing T cells although non-specific as per haematology review. The 1,25-Vitamin D level was elevated (159pmol/L [RR: 35-120pmol/L]) but serum ACE level was normal. Multiple skin biopsies were also performed of the nodular skin lesions, but returned negative for sarcoidosis, histiocytosis and lymphoma. Whole-body CT scan was unremarkable. FDG-PET scan was finally performed, with increased uptake detected in the left hypothalamus, right sacrum and posterior L2 spinous process.  The pituitary gland did not have increased avidity.  CO was discharged with ongoing outpatient investigation and active surveillance…

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