Duropathy as a rare motor neuron disease mimic: from bibrachial amyotrophy to infratentorial superficial siderosis.

BACKGROUND: Bibrachial amyotrophy associated with an extradural CSF collection and infratentorial superficial siderosis (SS) are rare conditions that may occasionally mimic ALS. Both disorders are assumed to be due to dural tears. CASE PRESENTATION: A 53-year-old man presented with a 7-year history of slowly progressive asymmetric bibrachial amyotrophy. Initially, a diagnosis of atypical motor neuron disease (MND) was made. At re-evaluation 11 years later, upper limb wasting and weakness had further progressed and were accompanied by sensorineural hearing loss. MRI of the brain and spine demonstrated extensive supra- and infratentorial SS (including the surface of the whole spinal cord) as well as a ventral longitudinal intraspinal fluid collection (VLISFC) extending along almost the entire thoracic spine. Osteodegenerative changes were observed at C5-C7 level, with osteophytes protruding posteriorly. The bony spurs at C6-C7 level were hypothesized to have lesioned the dura, causing a CSF leak and thus a VLISFC. Review of the MRI acquired at first evaluation showed that the VLISFC was already present at that time (actually beginning at C7 level), whereas the SS was not. 19 years after the onset of upper limb weakness, the patient additionally developed parkinsonism. Response to levodopa, brain scintigraphy with 123I-ioflupane and brain MRI with nigrosome 1 evaluation were consistent with idiopathic Parkinson's disease (PD). On the latest follow-up 21 years after symptom onset, the VLISFC was unchanged, as were upper arm weakness and wasting. CONCLUSIONS: Based on the long-term follow-up, we could establish that, while the evidence of the VLISFC was concomitant with the clinical presentation of upper limb amyotrophy and weakness, the radiological signs of SS appeared later. This suggests that SS was not per se the cause of the ALS-like clinical picture, but rather a long-term sequela of a dural leak. The latter was instead the causative lesion, giving rise to a VLISFC which compressed the cervical motor roots. Dural tears can actually cause several symptoms, and further studies are needed to elucidate the pathophysiological correlates of "duropathies". Finally, as iron metabolism has been implicated in PD, the co-occurrence of PD with SS deserves further investigation.

Demystifying the role of magnetic resonance in identifying intraocular foreign bodies: a case of ocular siderosis.

BACKGROUND: Ocular siderosis (OS) is a significant cause of visual loss due to retained ferrous intraocular foreign bodies (IOFB). Despite its rarity, OS can lead to severe visual impairment if not promptly diagnosed and treated. This case is notable due to the occult nature of the IOFB, which was undetected by standard imaging modalities, emphasizing the critical role of magnetic resonance imaging (MRI) in such scenarios. CASE PRESENTATION: A 51-year-old Caucasian male presented with progressive vision loss in his right eye over 20 days. Best corrected visual acuity (BCVA) was 20/1000 in the right eye and 20/20 in the left eye. Intraocular pressure (IOP) was 9 mmHg in both eyes. Slit-lamp examination revealed a small linear corneal wound and an iris defect in the right eye, along with a cataract featuring brownish deposits on the anterior capsule. The left eye was normal. Fundus examination of the right eye was hindered by media opacities. Ultrasonography showed a flat retina and choroid with no detectable IOFB. Despite a strong clinical suspicion of OS, computed tomography (CT) did not detect any IOFB. MRI subsequently identified an artifact in the inferior sectors of the right eye, indicative of a metallic IOFB. Surgical intervention involved a 23-gauge vitrectomy, phacoemulsification, IOFB removal and silicon oil (SO) tamponade resulting in a fully restored VA of 20/20 and normal IOP one month post-operation. SO was removed 2 months later. The retina remained adherent with no PVR development, and optical coherence tomography (OCT) scans showed a normal macula. CONCLUSIONS: This case underscores the importance of considering OS in patients with unexplained vision loss and history of ocular trauma, even when initial imaging fails to detect an IOFB. MRI proved crucial in identifying the IOFB, highlighting its value in the diagnostic process. Early detection and surgical removal of IOFBs are essential to prevent irreversible visual damage. This case demonstrates that MRI should be employed when CT and ultrasonography are inconclusive, ensuring accurate diagnosis and timely intervention to preserve vision.

Quantitative electroencephalography in cerebral amyloid angiopathy.

OBJECTIVE: We investigated whether quantitative electroencephalography (qEEG) correlates with cognition and cortical superficial siderosis (cSS) in cerebral amyloid angiopathy. METHODS: We included patients with sporadic (sCAA) and hereditary Dutch-type CAA (D-CAA). Spectral measures and the phase lag index (PLI) were analyzed on qEEG. Cognition was assessed with the MoCA and cSS presence was scored on 3T-MRI. Linear regression analyses were performed to investigate these qEEG measures and cognition. Independent samples T-tests were used to analyze the qEEG measure differences between participants with and without cSS. RESULTS: We included 92 participants (44 D-CAA; 48 sCAA). A lower average peak frequency (ß[95 %CI] = 0.986[0.252-1.721]; P = 0.009) and a higher spectral ratio (ß[95 %CI] = -0.918[-1.761--0.075]; P = 0.033) on qEEG correlated with a lower MoCA score, irrespective of a history of symptomatic intracerebral hemorrhage (sICH). The PLI showed no correlation to the MoCA. qEEG slowing was not different in those with or without cSS. CONCLUSIONS: Spectral qEEG (but not PLI) reflects cognitive performance in patients with CAA with and without a history of sICH. We found no association between qEEG slowing and cSS. SIGNIFICANCE: qEEG could be a valuable biomarker, especially in challenging cognitive testing situations in CAA, and a potential predictive tool in future studies.

A case report of superficial siderosis of the central nervous system and literature review.

Superficial siderosis of the central nervous system (SSCNS) is a rare disease characterized by iron deposition on the tissue surface of the middle axis system. We report the case of a man in his late 40 s who was admitted to the hospital with ataxia. A physical examination revealed cerebellar ataxia, sensorineural deafness, and bilateral pyramidal tract injury. Susceptibility-weighted magnetic resonance imaging showed linear hypointense signals on the surface of the cerebral hemispheres, sulcus gyrus, lateral ventricles, and cerebellum. The patient underwent treatment with deferiprone, mecobalamin, and vitamin B1, and the symptoms were not aggravated. The patient's daily living ability was near normal after 1 year of follow-up. A literature review indicated that most SSCNS patients present diverse clinical manifestations. Clinicians may consider SSCNS in patients with hearing impairment and gait ataxia, especially for those receiving anticoagulant therapy and with a history of brain injury or accident.

Clinical profile, demographic distribution, and outcomes of ocular siderosis: Electronic medical record-driven big data analytics from an eye care network in India.

Purpose: To describe the demographics, clinical profile, and outcomes of ocular siderosis in patients presenting to a multi-tier ophthalmology hospital network in India. Methods: This cross-sectional and hospital-based study included 3,082,727 new patients who presented between August 2010 and December 2021. Patients with a clinical diagnosis of ocular siderosis in at least one eye were included. Results: Overall, 58 eyes of 57 patients (0.002%) were diagnosed with ocular siderosis. The majority were men (96.49%) and had unilateral (98.25%) affliction. The most common age group at presentation was during the third decade of life with 24 patients (42.11%). A clear history of ocular trauma was documented in 47 patients (81.03%). Major clinical signs included corneal pigment deposition in nearly half of the eyes (27/58 eyes, 46.55%), corneal scar (20/58 eyes, 34.48%), cataract (22/58 eyes, 37.93%) and retinal detachment (11/58 eyes, 18.96%). The intraocular foreign body (IOFB) was anatomically localized in a majority of the eyes (i.e., 45/58 eyes, 77.59%). The most common location of the IOFB was in the posterior segment (22/58 eyes, 37.93%). The eyes that underwent a vitreoretinal surgery with removal of IOFB had a slightly better BCVA (1.0 ± 1.01) when compared to eyes with non-removal of IOFB (1.58 ± 1.00). Conclusion: Ocular siderosis is a rare sight-threatening entity, with half of the affected eyes exhibiting severe visual impairment. Majority of the eyes in ocular siderosis will have a detectable IOFB. Surgical removal of IOFB may lead to a better visual gain when compared to non-removal.

Progressive loss of hearing and balance in superficial siderosis due to occult spinal dural defects.

PURPOSE: Superficial siderosis, a progressive, debilitating, neurological disease, often presents with bilateral impairment of auditory and vestibular function. We highlight that superficial siderosis is often due to a repairable spinal dural defect of the type that can also cause spontaneous intracranial hypotension. METHODS: Retrospective chart review of five patients presenting with moderate to severe, progressive bilateral sensorineural hearing loss as well as vestibular loss. All patients had developed superficial siderosis from spinal dural defects: three after trauma, one after spinal surgery and one from a thoracic discogenic microspur. RESULTS: The diagnosis was made late in all five patients; despite surgical repair in four, hearing and vestibular loss failed to improve. CONCLUSIONS: In patients presenting with progressive bilateral sensorineural hearing loss, superficial siderosis should be considered as a possible cause. If these patients also have bilateral vestibular loss, cerebellar impairment and anosmia, then the diagnosis is likely and the inevitable disease progress might be halted by finding and repairing the spinal dural defect.

A case of aneurysmal subarchnoid haemorrhage and superficial siderosis complicated by prospagnosia, simultagnosia and alexia without agraphia.

A 42-year-old lady presented with acute aneurysmal subarachnoid haemorrhage and developed difficulty recognising faces (prosopagnosia), inability to process visual information in busy environments (simultagnosia) and difficulty to read (alexia). She was subsequently found to have superficial siderosis on MRI.

[A case of ocular siderosis caused by iron ore].

A patient complained of vision loss of his left eye which was crushed by iron ore for 11 months. The cornea of the injured eye was thin and swollen, and a large amount of rust-like material was observed to be deposited. An intraocular foreign body was found by orbital CT. During vitrectomy, a piece of metal sheet was found near the ora serrate, and the intraocular structure was severely damaged, and characterized by vitreous brown turbidity, a white optic disc, occlusion of blood vessels in the fundus, and peripheral retinal atrophy with degeneration. The patient was diagnosed as ocular siderosis in the left eye.

Diagnostic approach, therapeutic strategies, and surgical indications in intradural thoracic disc herniation associated with CSF leak, intracranial hypotension, and CNS superficial siderosis.

BACKGROUND AND PURPOSE: Intradural disc herniation (IDH) can manifest with radicular or medullary syndrome. In about 15% of cases, IDH may be responsible, through a dural laceration, for a CSF leak, determining spontaneous intracranial hypotension (SIH) and CNS superficial siderosis (CNSss). This paper attempts to present an overview on IDH as the cause for both CSF leak, and subsequent SIH, and CNSss, and to describe a peculiar clinical and neuroradiological scenario related to this condition. METHODS: A search on the PUBMED database was performed. Although the investigation did not rigorously follow the criteria for a systematic review (we consider only articles about thoracic IDH), nonetheless, the best quality evidence was pursued. Furthermore, an illustrative case was presented. RESULTS: A 69-year-old woman was referred to our hospital for slowly progressive gait disturbances and hearing impairment. Brain imaging revealed diffuse bilateral supratentorial and infratentorial superficial siderosis, mostly of the cerebellum, the eighth cranial nerves, and the brainstem. Spinal imaging disclosed a posterior disc herniation determining a dural tear at D6-D7. Lumbar puncture revealed low opening pressure and hemorrhagic CSF with siderophages. A posterior transdural herniectomy and dural sealing determined a stabilization of hearing and a significant improvement in both gait and balance. CONCLUSIONS: The diagnostic workup of CNSss with suspected CNS leak demands whole neuraxis imaging, especially in cases presenting SIH or myelopathic symptoms. This may avoid delays in detection of IDH and spinal dural leaks. The different forms of treatment available depend on the type and severity of the clinical picture.

[Pulmonary siderosis in a welder, diagnosis on unusual pneumopathy]. / Pneumopathie atypique chez un soudeur : sidérose pulmonaire ?

INTRODUCTION: Pulmonary siderosis or welder's lung is an occupational lung disease that is usually observed after chronic exposure to iron dust. OBSERVATION: A 55-years-old welder visited hospital with dyspnea linked to occupational exposure. Pulmonary function studies revealed lung function abnormalities with decerase of FEV1 and TPC. Based on the chest Tomography CT results, he was diagnosed with obliterans bronchiolitis. A chest biopsy was performed and the specimen is for a pulmonary siderosis aspect. DISCUSSION: This case of pulmonary siderosis is an unusual one by symptoms, CT images and short latency of exposure. An intense inhalation of iron particles could explain this case and inflammatory process and it highlights need of histological analysis of chest biopsy.

Spinal dural leaks in patients with infratentorial superficial siderosis of the central nervous system-Refinement of a diagnostic algorithm.

BACKGROUND AND PURPOSE: Superficial siderosis of the central nervous system is a sporadic finding in magnetic resonance imaging, resulting from recurrent bleedings into the subarachnoid space. This study aimed to determine the frequency of spinal dural cerebrospinal fluid (CSF) leaks amongst patients with a symmetric infratentorial siderosis pattern. METHODS: In all, 97,733 magnetic resonance images performed between 2007 and 2018 in our neurocenter were screened by a keyword search for "hemosiderosis" and "superficial siderosis." Siderosis patterns on brain imaging were classified according to a previously published algorithm. Potential causative intracranial bleeding events were also assessed. Patients with a symmetric infratentorial siderosis pattern but without causative intracranial bleeding events in history were prospectively evaluated for spinal pathologies. RESULTS: Forty-two patients with isolated supratentorial siderosis, 30 with symmetric infratentorial siderosis and 21 with limited (non-symmetric) infratentorial siderosis were identified. Amyloid angiopathy and subarachnoid hemorrhage were causes for isolated supratentorial siderosis. In all four patients with a symmetric infratentorial siderosis pattern but without a causative intracranial bleeding event in history, spinal dural abnormalities were detected. Dural leaks were searched for in patients with symmetric infratentorial siderosis and a history of intracranial bleeding event without known bleeding etiology, considering that spinal dural CSF leaks themselves may also cause intracranial hemorrhage, for example by inducing venous thrombosis due to low CSF pressure. Thereby, one additional spinal dural leak was detected. CONCLUSIONS: Persisting spinal dural CSF leaks can frequently be identified in patients with a symmetric infratentorial siderosis pattern. Diagnostic workup in these cases should include magnetic resonance imaging of the whole spine.

Superficial siderosis as a rare cause of visual and auditory pseudohallucinations: a case report.

BACKGROUND: Superficial siderosis is a rare disease involving hemosiderin deposits on the surface of brain or spinal cord that are thought to cause clinical symptoms, which usually consist of cranial nerve dysfunction, cerebellar ataxia, or myelopathy. Pseudohallucinations have been described as the patient being aware of the nonreality of hallucination-like phenomena. Data on pseudohallucinations of cerebral somatic origin are sparse. We present a case of auditory and visual pseudohallucinations due to superficial siderosis. Siderosis was diagnosed using cerebrospinal fluid analysis and magnetic resonance imaging as part of the clinical routine for newly emerged psychiatric symptoms. CASE PRESENTATION: An 84-year-old white/european female presented to our hospital with no prior history of psychiatric or neurological disease and no history of trauma. She reported seeing things and hearing voices singing to her for some days. She was aware these phenomena were not real (pseudohallucinations). On examination, no relevant abnormalities were detected. Cerebrospinal fluid analysis showed elevated ferritin. Magnetic resonance imaging with susceptibility-weighted sequences revealed diffuse superficial siderosis in several parts of the brain, among other occipital and temporal gyri. The pseudohallucinations resolved with a risperidone regime. The patient was treated with rivaroxaban because of atrial fibrillation. Potentially elevating the risk of further hemorrhage, this therapy was discontinued, and an atrial appendage occlusion device was implanted. CONCLUSION: We report the first case of pseudohallucinations in superficial siderosis. The risk of missing this diagnosis can be reduced by applying a standardized diagnostic pathway for patients presenting with the first episode of psychiatric symptoms. Somatic and potentially treatable causes should not be missed because they might lead to unnecessary treatments, stigmatization, and legal restrictions of self-determination, especially for elderly people.

Unilateral Ocular Siderosis Bulbi Due to Missed Metallic Intraocular Foreign Body Masquerading as Anisocoria of Neurological Origin: A Case Report.

BACKGROUND Ocular siderosis is an uncommon cause of vision loss due to a retained ferrous intraocular foreign bodies (IOFB) that cause iron deposition in ocular tissues. The most common manifestations are cataract formation, diffuse pigmentary changes of the retinal pigment epithelium, iris heterochromia, dilated pupils, secondary glaucoma, iritis, and cystoid macular edema. CASE REPORT We report a case of 38-year-old man who presented with a left dilated pupil and visual field defect. Neurological examination results were normal. Brain magnetic resonance imaging revealed a gross artifact at the site of the left globe. The visual field test showed a peripheral arcuate nasal visual field defect in the left eye. Ophthalmic examination revealed peripheral pigmentary changes and a black elongated and elevated lesion located very anterior and inferior-temporal and attached to the retina with fibrous tissue. A computed tomography scan revealed a 1×1-mm-round hyperdense IOFB in the left vitreous cavity. The diagnosis of siderosis bulbi secondary to a missed IOFB was established. The patient underwent a pars plana vitrectomy for removal of the IOFB. Two weeks later, rhegmatogenous retinal detachment developed, and repair with silicon oil injection was done. One year after the last operation, the best corrected visual acuity in the left eye was 6/120, with normal intraocular pressure and an attached posterior pole. CONCLUSIONS This case highlights the importance of investigating for a retained IOFB in cases of unilateral retinitis pigmentosa changes.

Siderotic glaucoma without detectable intraocular foreign body in a pseudophakic eye: a case report.

BACKGROUND: Ocular siderosis is induced by a retained intraocular foreign body (IOFB) containing iron and can present as siderotic glaucoma. We report a rare case of histopathologically proven siderotic glaucoma in a middle-aged blacksmith with a preceding history of ocular trauma but no radiologically detectable IOFB. CASE PRESENTATION: A 42-year-old blacksmith presented with an elevation of intraocular pressure (IOP) in left eye showing iris heterochromia and brownish deposits throughout the trabecular meshwork (TM). Preoperative ophthalmic examination did not reveal any retained IOFBs. Electroretinography showed the classic changes of retinal degeneration in ocular siderosis. Histopathologic staining of the TM verified the presence of iron deposits. CONCLUSION: This case underlines the importance of the close monitoring of patients with a history of ocular trauma and highlights the necessity of electroretinography, histopathologic study, and detailed ophthalmic examination in the diagnosis of siderotic glaucoma, even if there is no definite radiologically detectable IOFB.