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Background and purpose Spinal cerebrospinal fluid (CSF) leaks may cause a myriad of symptoms, most common being orthostatic headache. In addition, ventral spinal CSF leaks are a possible etiology of superficial siderosis (SS), a rare condition characterized by hemosiderin deposits in the central nervous system (CNS). The classical presentation of SS involves ataxia, bilateral hearing loss, and myelopathy. Unfortunately, treatment options are scarce. This study was undertaken to evaluate whether microsurgical closure of CSF leaks can prevent further clinical deterioration or improve symptoms of SS. Methods This cohort study was conducted using data from a prospectively maintained database in two large spontaneous intracranial hypotension (SIH) referral centers in Germany and Switzerland of patients who meet the modified International Classification of Headache Disorders, 3rd edition criteria for SIH. Patients with spinal CSF leaks were screened for the presence of idiopathic infratentorial symmetric SS of the CNS. Results Twelve patients were included. The median latency between the onset of orthostatic headaches and symptoms attributed to SS was 9.5 years. After surgical closure of the underlying spinal CSF leak, symptoms attributed to SS improved in seven patients and remained stable in three. Patients who presented within 1 year after the onset of SS symptoms improved, but those who presented in 8–12 years did not improve. We could show a significant association between patients with spinal longitudinal extrathecal collections and SS. Conclusions Long‐standing untreated ventral spinal CSF leaks can lead to SS of the CNS, and microsurgical sealing of spinal CSF leaks might stop progression and improve symptoms in patients with SS in a time‐dependent manner. Long‐standing untreated ventral spinal cerebrospinal fluid (CSF) leaks can lead to superficial siderosis of the central nervous system. Microsurgical sealing of spinal CSF leaks might stop progression and improve symptoms in patients with superficial siderosis in a time‐dependent manner. Therefore, searching for spinal CSF leaks in all patients with superficial siderosis with a thorough workup is strongly recommended.

BackgroundSuperficial siderosis is a rare neurodegenerative disease caused by hemosiderin deposition on the brain surface. Although the efficacy of the iron chelator—deferiprone—in superficial siderosis has recently been documented, a comparative study of patients who underwent surgical ablation of their bleeding source and subsequently received treatment with or without deferiprone has not yet been conducted.MethodsFifteen postoperative patients with superficial siderosis were recruited, and seven patients were administered deferiprone (combination therapy group). Quantitative changes in the hypointense signals on T2*-weighted magnetic resonance images were acquired; additionally, cerebellar ataxia was assessed (International Cooperative Ataxia Rating Scale score and Scale for the Assessment and Rating of Ataxia). Audiometry was performed and the results were compared with those of patients who did not receive deferiprone (surgical treatment group; controls).ResultsSignificant improvements in signal contrast ratios were noted in the lateral orbitofrontal gyrus, superior temporal lobe, insular lobe, brainstem, lingual gyrus, and cerebellar lobe in the combination therapy group. The scores of patients in the combination therapy group on the cerebellar ataxia scales significantly improved. The degree of signal improvement in the cerebellar lobe correlated with the improvement of cerebellar ataxia scores. Early deferiprone administration after disease onset and long-term administration were correlated with greater signal improvements on magnetic resonance imaging. No adverse effects were observed in the clinical or laboratory parameters.ConclusionsDeferiprone administration significantly improved radiological and clinical outcomes in patients with postoperative superficial siderosis. Earlier and longer courses of deferiprone could result in better patient prognosis.

Background Classical infratentorial superficial siderosis (iSS) is considered a rare but potentially disabling neurological disorder. It results from slow chronic blood extravasation into the cerebrospinal fluid and deposition of the iron degradation product hemosiderin within the subpial layers of the central nervous system. Susceptibility-weighted (SW) magnetic resonance imaging (MRI) is the reference diagnostic modality. Few studies have described the population prevalence of cerebellar or infratentorial siderosis, and there are none from the UK population. The aim of this cross-sectional observational study was to estimate the prevalence of iSS in the UK Biobank sample using pre-defined radiological criteria. Methods We reviewed SW MRIs of participants from the UK Biobank, looking for the radiological features of classical iSS: involvement of infratentorial structures (superior vermis, cerebellar folia, brainstem, or craniocervical junction). We calculated the point prevalence as the number of identified cases per total number of cases reviewed and 95% confidence intervals (CI) using Wilson’s Score formula. Results Of 10,305 SW MRIs reviewed, five cases with radiological features of iSS were identified demonstrating cerebellar/superior vermis involvement. The estimated prevalence of iSS was calculated as 48.5 (95%CI 20.7–113.5) cases per 100,000 population. Conclusions This is the first study to estimate iSS prevalence in the UK population. The prevalence of iSS is higher than that reported for other rare neurological and neuro-otological disorders, suggesting an important unmet healthcare need for early diagnosis and targeted management strategies. Further studies are needed to determine the clinical associations and prognostic significance of radiologically defined iSS in the general population.

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 123 I-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.

Background Superficial siderosis of the central nervous system (SSCNS) is a rare neurodegenerative disorder resulting from chronic hemorrhage into the subarachnoid space. This study aims to summarize its clinical and paraclinical features to improve clinical recognition. Methods We retrospectively analyzed the medical records of 14 patients diagnosed with SSCNS at the Affiliated Hospital of Xuzhou Medical University and Xuanwu Hospital between August 2011 and April 2023. Data on clinical manifestations, cerebrospinal fluid (CSF), imaging findings, treatment, and prognosis were collected and summarized. Results Among 14 patients (6 males, 8 females; mean age 53.1 years), the most common clinical manifestations were hearing loss (14/14, 100%), ataxia (12/14, 85.7%), and pyramidal tract dysfunction (12/14, 85.7%). Brain MRI revealed characteristic superficial siderosis in all cases, with susceptibility-weighted imaging (SWI) demonstrating superior sensitivity. Spinal cord involvement was observed in 13 patients (92.9%). CSF pressure predominantly falling within the normal range, while lumbar CSF exhibited signs of hemorrhage or yellowing, elevated red blood cell counts, and varying degrees of increased protein content. Sensorineural hearing loss was confirmed in 7/8 tested patients (87.5%). Potential bleeding sources were identified in 12 patients (85.7%), including prior surgery, trauma, and vascular abnormalities. Treatment was primarily symptomatic, with most patients (12/14) showing minimal improvement in core symptoms during hospitalization. Conclusion Superficial siderosis of the central nervous system is a progressive neurodegenerative disorder characterized by the clinical triad of hearing loss, ataxia, and pyramidal tract dysfunction. MRI, particularly T2-weighted imaging (T2WI) and SWI sequences demonstrating a characteristic peripheral low-signal band, provides high diagnostic sensitivity and represents the cornerstone of diagnosis. Early identification remains challenging yet critical, while management should focus on locating the underlying bleeding source and providing comprehensive supportive care. Trial registration Not applicable.

The role of inflammation in cortical superficial siderosis (cSS), a marker of cerebral amyloid angiopathy (CAA) linked to high hemorrhage risk, is unclear. We examined 15 patients with cSS using 3 T post‐contrast vessel wall MRI (VWI) and CSF analysis. Although only 27% met current CAA‐ri criteria, 93% showed vessel wall enhancement or sulcal hyperintensities near cSS, frequently extending beyond. Seven patients with follow‐up VWI demonstrated corticosteroid‐responsive regression of inflammation. CSF albumin quotients, indicating blood–brain barrier dysfunction, correlated with MRI inflammation scores. These findings reveal subclinical meningovascular inflammation in cSS and support VWI for detecting a broader CAA‐related inflammation spectrum.

The figure shows tissue samples taken from three previous cases, revealing the cause of hemosiderin deposition in the central nervous system because of superficial siderosis.The figure shows tissue samples taken from three previous cases, revealing the cause of hemosiderin deposition in the central nervous system because of superficial siderosis.

Background Patients with severe thalassemia may experience adverse effects from transfusion such as fever, rash, and iron overload after long-term transfusion therapy. Severe headaches as a side effect of blood transfusion in patients with thalassemia are not commonly observed, especially when combined with superficial siderosis of the central nervous system, which is easily misdiagnosed and requires excessive examination and treatment. Case Presentation A 31-year-old woman was admitted with severe headache and vomiting over 3 days following blood transfusion. She was diagnosed with intermediate α-thalassemia at 2 years of age and had a history of irregular blood transfusions. Physical examination revealed horizontal nystagmus with no other abnormal neurological signs. Magnetic resonance (MR) imaging, MR venography, MR arteriography, and cerebrospinal fluid analysis were normal. However, susceptibility-weighted imaging showed abnormal signals in the bilateral and fourth ventricles. Initial antibiotics, antivirals, decompression of intracranial pressure, iron chelation, and symptomatic treatments were administered; subsequently, small intermittent blood transfusions were cautiously administered for severe anemia. The patient’s headache was gradually relieved, and she was discharged on day 9. At the 5-month follow-up, the patient’s headache recurred following another transfusion. Conclusions Severe post-transfusion headache in patients with thalassemia has not been fully recognized and is easily misdiagnosed, leading to excessive examination and treatment. Understanding the clinical features of transfusion-related headaches can help identify this complication, but the exact pathophysiological mechanism requires further research.