Endocrine Abstracts

Introduction: Sarcoidosis is a multisystem inflammatory disorder that affects the lungs and the lymph nodes commonly. The involvement of the nervous system in this disease is infrequent with prevalence lower than 10%. The diagnosis could be challenging when the neurologic disease presents in a patient without previously known sarcoidosis.

Case Report: A 39-year-old Caucasian gentleman was brought to the Emergency department with a one week’s history of worsening confusion and headache on the background of nine months of intermittent headache, fatigue, weight gain and erectile dysfunction. The non-contrast CT scan of the head showed an infundibular pituitary lesion and he had raised opening pressure (33.5 cm H2O) on lumbar puncture. The cerebrospinal fluid (CSF) studies showed lymphocytic pleocytosis, high protein with normal glucose. He had negative blood cultures, negative CSF BioFire PCR, bacterial and mycobacterial cultures, and negative CSF TB PCR. He also had negative HIV and cryptococcal serology. His serum Angiotensin-Converting Enzyme (ACE) level was 42 U/l (reference range 18 - 55 U/l) and CSF ACE was raised at 4.78 U/l (normal value <1.20 U/l). The patient had panhypopituitarism (central hypothyroidism, hypogonadotropic hypogonadism and hypocortisolaemia) with a mild hyperprolactinaemia of 531 µg/l. He was commenced on oral Hydrocortisone and Levothyroxine was added later. The contrast MRI of the brain showed profuse enhancement of the thickened nodular pituitary infundibulum. There was also widespread profuse enhancement of the leptomeninges particularly around the brainstem and extension of the enhancement along the perivascular spaces of the cerebral hemispheres. The radiologic appearance was suspicious of neurosarcoidosis, and other differential diagnoses were tuberculosis and carcinomatosis. The patient was found to have mediastinal and bilateral hilar lymphadenopathy on CT scan of the chest, abdomen and pelvis. He was commenced on intravenous Methylprednisolone after an ultrasound-guided left inguinal lymph node biopsy showed non-caseating granulamatous changes in keeping with sarcoidosis. The patient improved clinically and he was discharged home to be followed up in the Endocrinology and Sarcoidosis clinics.

Conclusion: Neurosarcoidosis manifests with cranial neuropathy in up to 50% of the cases with the involvement of the hypothalamus and the pituitary gland being infrequent and reported in 2% of the cases only. The diagnosis is generally guided by clinical findings and imaging investigations, supported by extra-neural tissues biopsy. Systemic steroids remain the mainstay of treatment in neurologic disease, as the spontaneous improvement is unlikely to happen.