Diagnosis and Treatment > Medication

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Mike Lin Department of Endocrinology and Diabetes, Royal North Shore Hospital, New South Wales, Australia

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Venessa Tsang Department of Endocrinology and Diabetes, Royal North Shore Hospital, New South Wales, Australia
Cancer Genetics Unit, Kolling Institute of Medical Research, New South Wales, Australia
Faculty of Health and Medicine, University of Sydney, New South Wales, Australia

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Janice Brewer Department of Anatomical Pathology, Royal North Shore Hospital, New South Wales, Australia

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Roderick Clifton-Bligh Department of Endocrinology and Diabetes, Royal North Shore Hospital, New South Wales, Australia
Cancer Genetics Unit, Kolling Institute of Medical Research, New South Wales, Australia
Faculty of Health and Medicine, University of Sydney, New South Wales, Australia

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Matti L Gild Department of Endocrinology and Diabetes, Royal North Shore Hospital, New South Wales, Australia
Cancer Genetics Unit, Kolling Institute of Medical Research, New South Wales, Australia
Faculty of Health and Medicine, University of Sydney, New South Wales, Australia

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Summary

Lymphocytic hypophysitis is a rare neuroendocrine disease characterised by an autoimmune inflammatory disorder of the pituitary gland. We report a 50-year-old woman who presented with headaches and bilateral sixth cranial nerve palsies. MRI of the pituitary revealed extensive fibrosis involving the sellar and extending into both cavernous sinuses causing bilateral occlusion of the internal carotid arteries (ICA). Transphenoidal biopsy confirmed the diagnosis of infiltrative fibrotic lymphocytic hypophysitis. Symptoms resolved with high dose of oral steroids but relapsed on tapering, requiring several treatments of i.v. pulse steroids over 8 months. Rituximab combined with mycophenolate mofetil was required to achieve long-term symptom relief. Serial MRI pituitary imaging showed stabilisation of her disease without reduction in sellar mass or regression of ICA occlusion. The patient’s brain remained perfused solely by her posterior circulation. This case demonstrates an unusual presentation of a rare disease and highlights a successful steroid-sparing regimen in a refractory setting.

Learning points:

  • Lymphocytic hypophysitis is a rare inflammatory disorder of the pituitary gland. In exceptional cases, there is infiltration of the cavernous sinus with subsequent occlusion of the internal carotid arteries.

  • First-line treatment of lymphocytic hypophysitis is high-dose glucocorticoids. Relapse after tapering or discontinuation is common and its use is limited by long-term adverse effects.

  • There is a paucity of data for treatment of refractory lymphocytic hypophysitis. Goals of treatment should include improvement in symptoms, correction of hormonal insufficiencies, reduction in lesion size and prevention of recurrence.

  • Steroid-sparing immunosuppressive drugs such as rituximab and mycophenolate mofetil have been successful in case reports. This therapeutic combination represents a viable alternative treatment for refractory disease.

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Anna Kopczak Max Planck Institute of Psychiatry, Clinical Neuroendocrinology Group, Munich, Germany
Max Planck Institute of Psychiatry, Clinical Neuroendocrinology Group, Munich, Germany

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Adrian-Minh Schumacher Institute for Stroke and Dementia Research

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Sandra Nischwitz Max Planck Institute of Psychiatry, Clinical Neuroendocrinology Group, Munich, Germany

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Tania Kümpfel Institute of Clinical Neuroimmunology, Klinikum der Universität München, Ludwig-Maximilians Universität LMU, Munich, Germany

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Günter K Stalla Max Planck Institute of Psychiatry, Clinical Neuroendocrinology Group, Munich, Germany

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Matthias K Auer Max Planck Institute of Psychiatry, Clinical Neuroendocrinology Group, Munich, Germany

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Summary

The autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED) syndrome is a genetic disorder caused by a mutation in the autoimmune regulator (AIRE) gene. Immune deficiency, hypoparathyroidism and Addison’s disease due to autoimmune dysfunction are the major clinical signs of APECED. We report on a 21-year-old female APECED patient with two inactivating mutations in the AIRE gene. She presented with sudden onset of periodic nausea. Adrenal insufficiency was diagnosed by means of the ACTH stimulation test. Despite initiation of hormone replacement therapy with hydrocortisone and fludrocortisone, nausea persisted and the patient developed cognitive deficits and a loss of interest which led to the diagnosis of depression. She was admitted to the psychiatric department for further diagnostic assessment. An EEG showed a focal epileptic pattern. Glutamic acid decarboxylase (GAD) antibodies, which had been negative eight years earlier, were now elevated in serum and in the cerebrospinal fluid. Oligoclonal bands were positive indicating an inflammatory process with intrathecal antibody production in the central nervous system (CNS). The periodic nausea was identified as dialeptic seizures, which clinically presented as gastrointestinal aura followed by episodes of reduced consciousness that occurred about 3–4 times per day. GAD antibody-associated limbic encephalitis (LE) was diagnosed. Besides antiepileptic therapy, an immunosuppressive treatment with corticosteroids was initiated followed by azathioprine. The presence of nausea and vomiting in endocrine patients with autoimmune disorders is indicative of adrenal insufficiency. However, our case report shows that episodic nausea may be a symptom of epileptic seizures due to GAD antibodies-associated LE in patients with APECED.

Learning points:

  • Episodic nausea cannot only be a sign of Addison’s disease, but can also be caused by epileptic seizures with gastrointestinal aura due to limbic encephalitis.

  • GAD antibodies are not only found in diabetes mellitus type 1, but they are also associated with autoimmune limbic encephalitis and can appear over time.

  • Limbic encephalitis can be another manifestation of autoimmune disease in patients with APECED/APS-1 that presents over the time course of the disease.

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