Anti-metabotropic glutamate receptor 1 (mGluR1) encephalitis is a rare autoimmune disorder affecting both the central and peripheral nervous systems, typically characterized by a subacute cerebellar syndrome. Its effective treatment remains undefined. …
Nail psoriasis (NP) is refractory in children, causing punctate pits, onycholysis, subungual hyperkeratosis and discoloration, impairing quality of life. We report a 14-year-old boy with 4-year NP, all fingernails involved with no cutaneous lesion, and…
BackgroundAnti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis often requires intensive care and rapid escalation of immunotherapy. We report a critically ill woman with refractory anti-NMDAR encephalitis treated with tocilizumab (TCZ) as early…
Anti-GQ1b antibody syndromes span a clinical continuum from peripheral Guillain-Barré syndrome (GBS) to central Bickerstaff brainstem encephalitis (BBE), but reliable biomarkers of central nervous system (CNS) involvement that could guide treatment int…
Palisaded neutrophilic granulomatous dermatitis (PNGD) is an uncommon reactive granulomatous dermatosis frequently associated with rheumatoid arthritis (RA). Histopathologically, PNGD is characterized by neutrophilic infiltrates, degenerated collagen b…
BackgroundSmall bowel metastasis from primary esophageal carcinoma is a rare occurrence, typically indicative of advanced disease and often presenting with non-specific abdominal symptoms. Failure to consider this possibility in the differential diagno…
Inflammatory myofibroblastic tumor (IMT) is a rare mesenchymal neoplasm, approximately 50% of which harbor ALK rearrangements. ALK-negative gastric IMT (G-IMT) in pediatric patients is exceptionally rare and poorly characterized. We report a 6-year-old…
BackgroundDropped head syndrome (DHS) is a rare, disabling chin-on-chest deformity caused by severe cervical extensor weakness. The etiologic spectrum is dominated by peripheral myopathies, motor neuron disease, and myasthenia gravis; central nervous s…
Infantile-onset Multisystem Autoimmune Disease type 1(ADMIO, 1) is a rare hereditary autoimmune disorder primarily caused by STAT3 gain-of-function (GOF) mutations. This article presents a case of ADMIO type 1 resulting from a de novo STAT3 GOF mutatio…
BackgroundAPDS is a combined immunodeficiency disorder, characterized by impaired antibody production and lymphoproliferation, with a high risk of malignancy and autoimmunity. The disease may be caused by autosomal dominant gain-of-function variants in…
