Pituitary apoplexy is a rare endocrine emergency resulting from either acute haemorrhage or infarction within the pituitary gland. Although apoplexy occurs most frequently in a pre-existing pituitary adenoma, apoplexy could be the first presentation of a previously unknown adenoma. Acute headaches, visual disturbances, and neurological symptoms are common presenting symptoms in apoplexy; however, these symptoms may overlap with other neurological emergencies, which necessitate a holistic approach of clinical, radiological, and hormonal evaluation for suspected cases of apoplexy to confirm the diagnosis. Here we present a diagnostically challenging case of a 66-year-old man who presented with a sudden severe headache. His background history included a presumed intraventricular neurocytoma under surveillance. Initial CT head scan suggested possible haemorrhage within a known intraventricular mass (neurocytoma) with no obvious changes within the pituitary gland. However, subsequent MRI head demonstrated radiological features consistent with pituitary apoplexy. Later in his admission, he exhibited bilateral peripheral visual field constriction and early papilledema on fundoscopy. Hormonal testing showed evidence of hypopituitarism. The patient was managed conservatively with intravenous hydrocortisone replacement. During admission, he developed bilateral pulmonary emboli, for which he was treated with anticoagulation. While he was on anticoagulation, he developed intracranial haemorrhage, which led to his death after discharge from the hospital. This case demonstrates the importance of considering pituitary apoplexy in a challenging radiological and clinical presentation. A pre-existing neurological lesion (neurocytoma) makes a holistic approach, including MRI imaging and early hormonal evaluation are essential for timely diagnosis and treatment of pituitary apoplexy. The clinical challenge of having concurrent haemorrhagic and thrombotic events necessitates an individualised approach after balancing the benefits and risks of using anticoagulation treatment.

Papilledema is a potentially vision-threatening finding in children, often diagnosed during routine ophthalmological evaluation in asymptomatic subjects, which requires prompt diagnostic evaluation to exclude intracranial pathology. The available literature suggests that a significant proportion of cases with confirmed idiopathic intracranial hypertension (IIH) may present without headache or other manifestations of increased intracranial pressure. Current diagnostic criteria for pediatric IIH include lumbar puncture (LP) as a mandatory step following neuroimaging. However, the invasive nature of this procedure raises critical questions regarding the identification of patients who truly require this investigation. Indeed, the challenge of distinguishing true papilledema from pseudopapilledema represents the critical diagnostic prerequisite, requiring an expert pediatric neuro-ophthalmologist to ensure appropriate patient selection and avoid unnecessary tests. Evidence regarding the management of asymptomatic IIH is limited. Most published cohorts report treatment with acetazolamide despite the absence of symptoms, probably based on concerns regarding potential visual deterioration rather than prospective data. Currently, data from pediatric populations characterizing the natural history of untreated patients are lacking, and there is no consensus regarding treatment duration, tapering strategies, or long-term follow-up for this group. This narrative review summarizes the current literature on the diagnostic and therapeutic strategies for asymptomatic pediatric papilledema. It focuses on the role of lumbar puncture, the importance of differentiating papilledema from pseudopapilledema, and the uncertainties surrounding treatment decisions. Nevertheless, significant knowledge gaps persist regarding the optimal management of these patients, highlighting the need for prospective studies.

All-trans retinoic acid (ATRA) combined with arsenic trioxide (ATO) is the standard of care for acute promyelocytic leukemia (APL), including high-risk disease. Secondary intracranial hypertension (SIH), historically termed pseudotumor cerebri (PTC), is a recognized but uncommon and potentially therapy-limiting complication of retinoid exposure, reported predominantly in pediatric and young-adult patients and most frequently during induction. We report a 31-year-old man with high-risk microgranular APL in whom SIH was diagnosed during the first ATRA/ATO consolidation cycle. The clinical course included progressive headache, ocular pain, pulsatile tinnitus, focusing difficulties, visual deterioration, and diplopia. Ophthalmological assessment demonstrated bilateral papilledema with marked peripapillary retinal nerve fiber layer thickening despite preserved central visual acuity. Magnetic resonance imaging showed bilateral optic nerve sheath distension, prominent optic nerve heads, mild pituitary flattening, and bilateral transverse sinus stenosis. Lumbar puncture demonstrated an opening pressure of 32 cm H2O with otherwise unremarkable cerebrospinal fluid; removal of approximately 30 mL resulted in immediate symptomatic improvement. Management consisted of temporary ATRA interruption, therapeutic lumbar punctures, acetazolamide, and individualized ATRA rechallenge and dose titration. Repeated attempts at dose escalation reproduced symptoms, and ATRA was ultimately maintained at a maximally tolerated dose of 30 mg/m[2]/day while full-dose ATO was continued. Molecular remission was achieved after the first consolidation cycle and remains sustained at 18-month follow-up. This case highlights the importance of recognizing ATRA-associated SIH throughout the treatment course and illustrates a pragmatic strategy for preserving ATRA exposure when standard-dose treatment is limited by neurological toxicity. However, the oncological equivalence of reduced-dose ATRA cannot be inferred from a single case.

We report an 86-year-old man with immune thrombocytopenia (ITP) who developed bilateral internal jugular vein (IJV) thrombosis during treatment with eltrombopag (EPAG). He had experienced multiple cerebral infarctions over several months, but their cause had remained undetermined and warfarin therapy had been continued. Nine days before admission to our hospital, he developed visual impairment, and ophthalmologic evaluation revealed bilateral papilledema. He was admitted for further evaluation. Lumbar puncture demonstrated markedly elevated cerebrospinal fluid opening pressure (53 ‍cm H2O), suggesting intracranial hypertension, and contrast-enhanced MR venography demonstrated bilateral sigmoid sinus thrombosis and bilateral IJV thrombosis. Although early thrombotic changes were retrospectively identifiable on plain MRI obtained at the previous hospital, the diagnosis was delayed because we did not initially recognize the possibility of EPAG-associated thrombosis, and visual impairment persisted despite treatment. In patients receiving EPAG, thrombotic complications should always be considered, and careful assessment of abnormal intraluminal venous signals on plain MRI is important for early diagnosis and therapeutic intervention.

Two patients (Female; 9 and 32 years in age) with papilledema secondary to venous sinus thrombosis underwent bilateral medial transconjunctival optic nerve sheath decompression for visual loss. Postoperative imaging revealed perioptic cystic lesions in 3 eyes associated with persistent papilledema and increased retinal nerve fiber layer thickness. For treatment, the cystic lesions were excised through a transconjunctival approach after aspiration of their fluid content. The cystic fluid, analyzed by gel electrophoresis, tested positive for beta-2 transferrin, confirming its cerebrospinal fluid origin. Histological examination demonstrated acellular fibrotic membranes lacking meningeal cells. Surgical excision resulted in resolution of papilledema and normalization of retinal thickness in all eyes. These findings support the classification of such lesions as perioptic pseudomeningoceles and further suggest that optic nerve sheath decompression exerts its effect through cerebrospinal fluid drainage.

Malignant melanoma is a neoplasm arising from the malignant transformation of melanocytes. These cells are derived from the neural crest and are found predominantly in the skin, but also in mucous membranes, the uveal tract of the eye, the leptomeninges, and other sites. A 39-year-old previously healthy male presented with a holocranial headache for two months and a single episode of a focal seizure involving his left arm. Neurological exam revealed left-sided pronator drift and gross papilledema. Contrast-enhanced magnetic resonance imaging (CE-MRI) of the brain revealed a large (4.8 x 3.9 cm) heterogeneously enhancing lesion in the right parieto-occipital region with marked perilesional edema, with the provisional diagnosis of a high-grade lesion. Complete metastatic work-up, including computerized tomography (CT) of the chest and abdomen and positron emission tomography (PET), revealed no primary lesion; hence, the lesion was planned for excision. Gross total excision (GTE) was achieved, and histopathological examination (HPE) of the resected specimen confirmed malignant melanoma. Recurrence was noted 11 months later with an even bigger lesion (6.0 x 5.0 cm) on CE-MRI, and the patient succumbed to death 45 days later under the care of oncology for adjuvant chemotherapy. Primary intracerebral malignant melanomas are extremely rare tumours of the CNS. Despite surgical and chemotherapeutic treatment options, these tumours are a clinical ordeal due to their aggressive behaviour and explosive growth rate. The primary existence of melanoma intracerebrally is an oncologic enigma and needs to be included in the differential diagnosis of primary brain lesions.

Vein of Galen aneurysmal malformations (VGAMs) are rare cerebrovascular anomalies due to lack of involution of the prosencephalic vein of Markowski in early gestation. Children born with such pathology may present with high-output cardiac failure, developmental delay, seizures, and hydrocephalus (Lasjaunias et al., 2006; Berenstein et al., 2010). Hydrocephalus may present due to aqueductal obstruction, intraventricular hemorrhage, or venous hypertension leading to absorptive deficit. Historical data suggests extremely high rates of complications associated with ventriculoperitoneal shunting when required in VGAM (Jea et al., 2010). Herein, we describe our experience with endoscopic third ventriculostomy for treatment of a partially embolized VGAM patient presenting with acute decline secondary to headaches, vomiting, and papilledema with evidence of symptomatic and radiographic resolution at two-month followup. Six-month MRI/MRA followup confirms persistent obliteration of the cerebrovascular lesion.

Fourth ventricle outlet obstruction is a rare cause of obstructive hydrocephalus in children. Although surgical management has been reported, the diagnostic challenges, differential considerations, and therapeutic strategies remain debated. We report a 5-year-old boy with progressive vomiting, severe headache, gait instability, and incontinence. High-resolution magnetic resonance imaging with T2-CISS sequences confirmed a membranous obstruction at the foramina of Magendie and Luschka. The patient underwent microsurgical fenestration via suboccipital craniotomy, with histopathological confirmation of arachnoid membranes without signs of infection or malignancy. The postoperative course was favorable with complete symptom resolution. Notably, persistent papilledema was observed at 2-month follow-up despite clinical improvement, but showed gradual regression during subsequent visits, underlining the need for cautious postoperative monitoring.

We report the case of a 10-year-old boy referred for transient visual episodes compatible with Alice in Wonderland syndrome, described as a sensation that objects were moving away. Ophthalmic examination showed preserved visual acuity and an unremarkable anterior segment, but revealed elevation of the left optic disc, prompting evaluation for true papilledema. Macular OCT was normal, whereas optic nerve head OCT demonstrated structural asymmetry consistent with pseudopapilledema. Brain and orbital MRI showed isolated enlargement of both optic nerve sheaths and mild elevation of the left optic disc, without additional findings suggestive of intracranial hypertension. Orbital ultrasonography identified a hyperechogenic focus suggestive of optic disc drusen. The stable clinical and structural course supported the diagnosis of unilateral pseudopapilledema due to optic disc drusen, probably unrelated to the perceptual symptoms.

Optic disc drusen (ODD) are benign acellular calcified deposits that typically form early in life. They do not normally cause symptoms, so ODD are often detected incidentally as an abnormal or potentially swollen optic disc appearance. Distinguishing ODD from true optic disc edema is essential, and now, multimodal imaging, particularly enhanced-depth imaging optical coherence tomography, can detect ODD accurately and reduce the need for further investigations. The origins of ODD are unknown, although the potentially unique finding of heavily calcified extracellular mitochondria in the optic disc raises hypotheses about local astrocyte clearance of dysfunctional mitochondria. Strong familial clustering suggests dominant or polygenic inheritance, and yet the most interesting candidate gene association is the recessive ABCC6. These emerging genetic associations both illuminate the pathogenesis and raise potential therapeutic targets for ODD. This narrative review synthesizes current knowledge on diagnosis, epidemiology, pathogenesis, genetic associations, and emerging therapeutic approaches, aiming to support clinicians in the diagnosis and management of ODD, and also highlights directions for future research.

Chronic intracranial venous hypertension (CIVHS) comprises a heterogeneous group of disorders characterized by impaired cerebral venous outflow and symptoms related to elevated intracranial pressure. Although venous sinus stenting is increasingly used for venous sinus stenosis with elevated trans-stenotic pressure gradients, venous sinus stenosis is an imaging phenotype rather than a single diagnosis. We retrospectively reviewed 13 consecutive patients with CIVHS who underwent clinical, imaging, and hemodynamic evaluation, including conventional neuroimaging, MR or CT venography, digital subtraction angiography, venous manometry when indicated, and selective high-resolution MRI. All patients initially presented to ophthalmology and had papilledema. Patients were classified according to presumed mechanisms of venous outflow impairment, and treatment was tailored to the anatomical substrate, hemodynamic findings, and clinical context. Six etiological categories were identified: intrinsic transverse sinus stenosis, extrinsic transverse-sigmoid sinus compression, shunt dependency syndrome, jugular foramen stenosis related to chronic organized thrombus, JAK2 V617F mutation-positive essential thrombocythemia with suspected microvascular venous congestion, and dialysis catheter-related central venous stenosis. An additional chronic cerebral venous sinus thrombosis case was included as an illustrative secondary comparator but was not classified as idiopathic intracranial hypertension. Treatments included venous sinus stenting, shunt-related management, hematologic-directed therapy, anticoagulation, acetazolamide, weight control, and conservative management. Among the 13 cohort patients with available follow-up, symptoms improved or remained clinically stable; Case 14 was lost to follow-up. No stent failure was documented during short-term follow-up, but long-term surveillance data were unavailable. These findings support an etiology-oriented, multimodal approach to chronic intracranial venous hypertension.