The Journal of the Association of Physicians of India
July 1, 2026 · via Europe PMC
Expanding the Spectrum: Isolated Acute Diencephalitis as the Initial Manifestation of Neuromyelitis Optica Spectrum Disorder.
Saibaba J, Pazhani P, Iyer VV.
AI summary — for doctors, generated from the abstract only
A case report describes isolated acute diencephalitis, a rare presentation (occurring in about 3.4% of cases) as the initial manifestation of neuromyelitis optica spectrum disorder, without the typical optic neuritis or spinal cord involvement.
What was studied
A case report describing a patient presenting with isolated acute diencephalic syndrome as the initial manifestation of neuromyelitis optica spectrum disorder (NMOSD), without the classic initial features of optic neuritis or longitudinally extensive transverse myelitis.
Key findings
- Diencephalic syndrome is a rare clinical variant of NMOSD, observed in approximately 3.4% of presentations, with hallmark features including endocrine and sleep-wake disturbances such as SIADH, hypothermia, narcolepsy, daytime somnolence, and appetite dysregulation.
Clinical relevance
This case report is directly relevant to neurologists, underscoring the importance of considering NMOSD as a diagnosis even when a patient presents with isolated diencephalic/endocrine symptoms and lacks the more typical optic neuritis or spinal cord findings, to avoid diagnostic delay.
Who should care
Limitations
Single case report; specific patient details, clinical course, and treatment response are not detailed in the available abstract text, limiting generalizability.
Neuromyelitis optica spectrum disorder can rarely present first with isolated diencephalic symptoms like SIADH or narcolepsy, without typical optic or spinal cord findings, so clinicians should keep this on the differential for such unusual presentations.
This is an AI-generated summary of the published abstract, not a clinical recommendation. It may not reflect the full text or subsequent updates — verify against the original source before acting on it.
Abstract
Diencephalic syndrome is a rare clinical variant of neuromyelitis optica spectrum disorder (NMOSD), observed in approximately 3.4% of presentations. Its hallmark features include endocrine and sleep-wake disturbances such as syndrome of inappropriate antidiuretic hormone secretion (SIADH), hypothermia, narcolepsy, daytime somnolence, and appetite dysregulation.1 We report a case of NMOSD presenting as an isolated acute diencephalic syndrome, a rare and diagnostically challenging initial manifestation. This case underscores the importance of considering NMOSD even in the absence of typical optic neuritis or longitudinally extensive transverse myelitis.
Diencephalic syndrome is a rare clinical variant of neuromyelitis optica spectrum disorder (NMOSD), observed in approximately 3.4% of presentations. Its hallmark features include endocrine and sleep-wake disturbances such as syndrome of inappropriate antidiuretic hormone secretion (SIADH), hypothermia, narcolepsy, daytime somnolence, and appetite dysregulation.1 We report a case of NMOSD presenting as an isolated acute diencephalic syndrome, a rare and diagnostically challenging initial manifestation. This case underscores the importance of considering NMOSD even in the absence of typical optic neuritis or longitudinally extensive transverse myelitis.
DOI
10.59556/japi.74.1510
PMID
42543999
Research metadata (titles, abstracts, authors, publication dates) is sourced from Europe PMC, which aggregates content from PubMed/MEDLINE, PubMed Central, and other providers under the U.S. National Library of Medicine (NLM/NCBI). NLM does not claim copyright on abstracts; the original journal publishers or authors may hold rights to the full articles. AI-generated summaries are derived only from the abstract, never the full text, and are always labeled as AI-generated.
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