Idiopathic intracranial hypertension (IIH) is increasingly recognised as a complex disorder characterized by elevated intracranial pressure (ICP), with evidence suggesting contributions from dysregulated cerebrospinal fluid (CSF) dynamics as well as metabolic, endocrine, and neurovascular mechanisms. IIH predominantly affects women of reproductive age who are living with obesity. Clinically, IIH may be asymptomatic or present with severe headaches, visual disturbances, and papilledema, with a risk of visual impairment in some untreated or refractory cases. Although the etiopathogenesis of IIH remains unclear, emerging evidence from metabolic and immunological studies suggests that immune-mediated mechanisms may contribute to disease pathophysiology. In this review, we synthesize current literature on the potential contribution of the immune system to IIH, integrating findings across obesity-associated inflammation, circulating cytokine profiles, comorbid inflammatory and autoimmune conditions, and markers of neuroglial stress and injury. We summarize converging data suggesting that IIH may, at least in part, be influenced by a pro-inflammatory milieu that affects CSF dynamics. While available studies highlight intriguing immunological signals, the underlying mechanistic pathways remain poorly resolved. Larger, longitudinal, and mechanistically grounded investigations are needed to clarify causality, identify relevant immune subtypes, and determine whether immune modulation may offer therapeutic opportunities in IIH.

Pediatric pseudotumor cerebri syndrome (PTCS) is an uncommon cause of raised intracranial pressure in children. We report a case of PTCS temporally associated with standard-dose oral N-acetylcysteine (NAC). A 6-year-old boy (20 kg) presented with 1 week of worsening nocturnal headaches, vomiting, and photophobia. Examination revealed bilateral optic disc swelling. Brain magnetic resonance imaging and magnetic resonance venography were normal. Lumbar puncture showed an opening pressure of 80 cm H2O and normal cerebrospinal fluid composition. The patient had been treated with oral NAC 200 mg twice daily for 4 weeks before symptom onset. Acetazolamide and topiramate were started with no improvement; symptoms and papilledema improved rapidly within 24 hours of NAC discontinuation. The patient remained asymptomatic at 6 months of follow-up. This case suggests a possible association between therapeutic-dose NAC and intracranial hypertension. Clinicians should consider medication-induced PTCS in children who present with new-onset headaches and papilledema. Further pharmacovigilance and reporting are warranted.

We report the first documented case of chronic eosinophilic leukemia (CEL) with ETV6-SYK gene rearrangement manifesting as refractory bilateral nodular scleritis within a broader paraneoplastic autoimmune syndrome. A 25-year-old woman with pre-existing Hashimoto's thyroiditis developed progressive bilateral nodular scleritis with anterior uveitis that proved completely refractory to high-dose corticosteroids, methotrexate, and conventional disease-modifying antirheumatic drugs, along with papilledema and granulomatous rosacea, suggesting systemic inflammation. Comprehensive evaluation revealed persistent marked eosinophilia (peak 15,000/μL), prompting hematological investigation, including a bone marrow biopsy and cytogenetic analysis that confirmed CEL harboring the ETV6-SYK fusion oncogene. Recognition of this molecular target enabled precision therapy with fostamatinib, a spleen tyrosine kinase (Syk) inhibitor, combined with adalimumab, a tumor necrosis factor-alpha (TNF-α) inhibitor, resulting in complete and sustained remission of all inflammatory manifestations over 18 months of follow-up. This case underscores the critical importance of maintaining high clinical suspicion for paraneoplastic autoimmune syndromes in patients with treatment-refractory inflammatory conditions, particularly when accompanied by atypical systemic or unexplained laboratory findings, and demonstrates that molecularly targeted precision medicine approaches can transform treatment outcomes in complex paraneoplastic rheumatic disorders.

Pycnodysostosis is a rare autosomal recessive skeletal dysplasia resulting from pathogenic variants in the CTSK gene, which encodes cathepsin K, a lysosomal cysteine protease expressed in osteoclasts. Deficiency of this enzyme leads to defective bone resorption and generalized osteosclerosis. We report an 8-year-old girl, the firstborn of a third-degree consanguineous marriage, who presented with poor height and weight gain since birth and delayed developmental milestones, including independent walking at 2 years of age. Physical examination revealed proportionate short stature with microcephaly and brachycephaly. Craniofacial findings included frontal bossing, beaked nose, low-set posteriorly rotated ears, micrognathia and a high-arched fissured palate with dental crowding and supernumerary teeth. Thickened palmar skin, pectus carinatum, and saddle toe deformity were also seen. Fundoscopic examination demonstrated bilateral papilledema. Radiographic evaluation showed diffuse cranial sclerosis, wormian bones, hypoplastic clavicles, acro-osteolysis, and generalized increased bone density. Endocrine assessment revealed isolated low parathyroid hormone levels, an exceptionally rare association. Molecular genetic testing by clinical exome sequencing (CES) identified a homozygous pathogenic variant in exon 6 of the CTSK gene, establishing the diagnosis of pycnodysostosis. The patient was initiated on recombinant growth hormone therapy and referred for multidisciplinary follow-up, including endocrinology, dentistry, orthopedics, and ophthalmology. This case underscores both classical manifestations and unusual findings such as papilledema and low PTH levels. Early diagnosis through careful clinical evaluation and genetic confirmation enables timely initiation of appropriate interventions. Growth hormone therapy demonstrated consistent improvement in linear growth, emphasizing the potential for better long-term outcomes. A coordinated multidisciplinary approach remains essential to enhance prognosis and overall quality of life in children with this rare skeletal dysplasia.

We describe the ophthalmic findings in a case of cerebral venous thrombosis in a young patient. Observations: A five-year-old female presents with acute onset irritability, somnolence, diplopia, and headache. Ophthalmic exam showed normal vision, large esotropia with a VI nerve palsy and papilledema. MRI demonstrated longitudinal sinus thrombosis associated with Leiden factor V thrombophilia and an asymptomatic pulmonary thrombosis. Anticoagulant therapy was initiated resolving the diplopia and the disc edema, although MRI evidence of the sinus thrombosis persisted. Venous sinus thrombosis should be included in the differential diagnosis of cranial hypertension.

Idiopathic intracranial hypertension (IIH) is a disorder characterized by elevated intracranial pressure (ICP) in the absence of intracranial mass lesions, hydrocephalus, or infection. The condition most commonly presents with headache and papilledema; however, idiopathic intracranial hypertension without papilledema (IIHWOP) is increasingly recognized as a clinically important variant that may lead to diagnostic delay and progressive visual impairment. Established risk factors include obesity, female sex, and hormonal influences, while IIH in people living with HIV remains uncommon. We report a rare case of IIHWOP in a transgender woman with HIV receiving bictegravir/emtricitabine/tenofovir alafenamide (Biktarvy) and estrogen therapy. A 34-year-old transgender woman with well-controlled HIV, assigned male at birth, presented with six months of progressive bilateral peripheral visual field loss accompanied by chronic headache, nausea, dizziness, and diplopia. Neurologic examination revealed severe visual field constriction without papilledema. Neuroimaging demonstrated findings suggestive of chronically elevated ICP, including prominent Meckel's caves and mild flattening of the superior pituitary margin, without evidence of mass lesions or venous sinus thrombosis. Lumbar puncture revealed a markedly elevated opening pressure of 53 cm H₂O with otherwise normal cerebrospinal fluid composition. Infectious, inflammatory, and neoplastic etiologies were excluded. The patient was diagnosed with IIHWOP and treated with acetazolamide, with plans for close neuro-ophthalmologic follow-up. This case underscores the importance of considering IIH variants in patients with progressive visual symptoms despite a normal funduscopic examination. The potential contributions of antiretroviral therapy, estrogen use, obesity, and psychosocial stressors warrant further investigation.