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Long-Standing Isolated Autoimmune Hypothalamitis Diagnosed with Endoscopic Transventricular Biopsy
Lorenzo Bertulli1, Giulio Andrea Bertani1, Umberto Gianelli2
1Unit of Neurosurgery, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
World Neurosurgery
|June 20, 2017
Summary
Autoimmune hypothalamitis, a rare cause of central diabetes insipidus, was diagnosed in a patient using an endoscopic transventricular biopsy. Treatment with immunosuppressants reduced lesion size but did not improve cognitive or endocrine function.
Area of Science:
- Neuroendocrinology
- Immunology
- Neurosurgery
Background:
- Autoimmune hypothalamitis is a rare cause of acquired central diabetes insipidus.
- It is associated with anti-vasopressin-secreting cell antibodies and often linked to pituitary or polyendocrine autoimmunity.
- Timely diagnosis and treatment are crucial to prevent disease progression.
Observation:
- A patient with a 12-year history of central diabetes insipidus, panhypopituitarism, and memory deficits presented with a contrast-enhancing hypothalamic lesion.
- Magnetic resonance imaging revealed the lesion; however, the patient declined further radiologic studies.
- An endoscopic transventricular biopsy was performed for histopathologic examination.
Findings:
- Histopathology confirmed autoimmune hypothalamitis.
- Treatment with steroids and azathioprine led to a decrease in lesion size, which remained stable over 17 months.
- No clinical improvement in cognitive or endocrinologic function was observed post-treatment.
Implications:
- The endoscopic transventricular approach is a safe and effective method for obtaining biopsies from the difficult-to-access third ventricle floor.
- This technique allows direct visualization and easier tissue sampling.
- While immunosuppressive therapy can reduce lesion size in autoimmune hypothalamitis, its efficacy in restoring cognitive and endocrine function requires further investigation.
