Search

Hemochromatosis, also known as siderosis, is a disease caused by excessive iron deposition in human organs and tissues, resulting from iron metabolism disorders. It is clinically characterized by skin pigmentation (bronze color), liver cirrhosis, diabetes, weakness, and fatigue. Additional symptoms may include arthritis, hypothyroidism, heart failure, and sexual hypofunction. Clinical manifestations can vary from person to person, with a few patients showing no clinical manifestations, which makes the diagnosis difficult for clinicians. In this case report, we described hereditary hemochromatosis related to a mutation in the HAMP gene in Fuyang City, China, as a reference for clinicians. Hereditary hemochromatosis is rarely reported in China. Clinicians in China have relatively insufficient knowledge of this disease, which leads to frequent misdiagnosis. In this case report, we describe hereditary hemochromatosis related to HAMP gene mutation in Fuyang City, China, for the clinician’s reference.

ObjectiveWe aimed to characterize cortical superficial siderosis, its determinants and sequel, in community-dwelling older adults.MethodsThe sample consisted of Framingham (n = 1724; 2000-2009) and Rotterdam (n = 4325; 2005-2013) study participants who underwent brain MRI. In pooled individual-level analysis, we compared baseline characteristics in patients with cortical superficial siderosis to two reference groups: (i) persons without hemorrhagic MRI markers of cerebral amyloid angiopathy (no cortical superficial siderosis and no microbleeds) and (ii) those with presumed cerebral amyloid angiopathy based on the presence of strictly lobar microbleeds but without cortical superficial siderosis.ResultsAmong a total of 6049 participants, 4846 did not have any microbleeds or cortical superficial siderosis (80%), 401 had deep/mixed microbleeds (6.6%), 776 had strictly lobar microbleeds without cortical superficial siderosis (12.8%) and 26 had cortical superficial siderosis with/without microbleeds (0.43%). In comparison to participants without microbleeds or cortical superficial siderosis and to those with strictly lobar microbleeds but without cortical superficial siderosis, participants with cortical superficial siderosis were older (OR 1.09 per year, 95% CI 1.05, 1.14; p 999.99; p = 0.006). During a mean follow-up of 5.6 years, 42.4% participants with cortical superficial siderosis had a stroke (five intracerebral hemorrhage, two ischemic strokes and four undetermined strokes), 19.2% had transient neurological deficits and 3.8% developed incident dementia.ConclusionOur study adds supporting evidence to the association between cortical superficial siderosis and cerebral amyloid angiopathy within the general population. Community-dwelling persons with cortical superficial siderosis may be at high risk for intracerebral hemorrhage and future neurological events.

A 49-year-old male who had been working in welding for more than 30 years was admitted to the hospital for a medical checkup that revealed a lung shadow without specific symptoms such as coughing and sputum. Imaging studies showed diffuse ground-glass changes in both lungs, wall cavities with wall nodules, multiple peripheral nodules, and some nodules with calcification. The patient has been engaged in welding work for more than 30 years and exposed to iron dust. Lung tissue biopsy, routine morphological and pathological fluid basis examination of alveolar lavage fluid, can be considered as pulmonary iron particles, which can be regarded as iron dust lung. Acid-fast bacilli were detected in both fibrobronchoscopic brush extract and alveolar lavage fluid acid-fast staining. As the pathological examination revealed granulomatous inflammation showed caseation necrosis, the patient was judged to have concomitant pulmonary TB. After the diagnosis was made, the patient was no longer exposed to dust and was treated with appropriate anti-tuberculosis (TB) therapy. Lung lesions caused by welding have been reported, but the simultaneous finding of siderosis with pulmonary TB is specific to the case presented here. By describing the imaging features, combining different staining methods of alveolar lavage fluid and pathological examination of lung tissue, we showed various morphological manifestations of this case, aiming at improving the morphological diagnosis level of laboratory physicians and enabling patients to be diagnosed and treated early. [ABSTRACT FROM AUTHOR]

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.

Intra Ocular Foreign Bodies (IOFB) associated with open globe injuries are a significant cause of vision loss. This review article was planned to evaluate the newer modalities of diagnosis and management of IOFB as well as the complications associated. A PubMed search for “intraocular foreign body” with the terms “imaging,” “removal,” “management,” “prognosis,” “complications/sequelae,” along with “open globe injury,” “ocular trauma,” “penetrating ocular injury,” “perforating ocular injury,” and “post-traumatic endophthalmitis” was made. Both the authors independently assessed the studies obtained. Incorporation of newer techniques in diagnosis and management have resulted in better visual outcomes.

Background: Hepatic iron overload resulting from multiple red cell transfusions over a long period of time is a complication of thalassemia major. Hepatocellular iron deposits with a decreasing gradient from periportal to centrilobular areas in the liver have been referred to as the HH pattern and those deposits primarily in reticuloendothelial cells and macrophages with occasional heterogeneous deposits in periportal hepatocytes are referred to as the non-HH pattern. Aims and Objectives: The purpose of this study was to evaluate patterns of liver siderosis in these patients and correlate with number of units of blood transfused. Materials and Methods: Thirty beta-thalassemia patients were selected, having splenomegaly and during splenectomy, liver biopsy was taken and sent for histopathology examination and pattern of siderosis was noted as HH (Hepatocytes), non-HH (Reticuloendothelial cells/Kupffer cells/macrophages) or HH; non-HH (Mixed). Results: Mean number of units transfused was 48.429±9.53 (SD) for patients having HH pattern of liver siderosis whereas it was 58.667±13.27 (SD) for patients having HH; non-HH pattern of liver siderosis. Independent-samples non-parametric Mann–Whitney U test was performed and P-value was found to be 0.028 which emphasized that total number of units of blood transfused vary significantly with two groups showing different patterns of siderosis. Conclusion: Hence, pattern of liver siderosis can be a good indicator for transfusional iron overload in beta-thalassemia major patients.

Silicosis is one of the most important occupational respiratory diseases worldwide, hence the importance of making a correct diagnosis. Diagnosis is commonly based on radiological findings according to the ILO International Classification of Radiographs of Pneumoconioses and occupational exposure. High-resolution computed tomography is indicated for differential diagnosis. This article presents two cases with an initial diagnosis of silicosis that ended up being diagnosed as sarcoidosis and siderosis, respectively. The first case was a 42-year-old male who worked as a crushing operator in an underground copper and molybdenum mine for 22 years. He had a history of exposure to silicon dioxide and was asymptomatic. X-rays did not distinguish silicosis or siderosis, but histological findings (open lung biopsy) allowed for a diagnosis of sarcoidosis. The second case was a 50-year-old male who had worked as a welder in a molybdenum filter plant, an open pit mine since 2013; he spent the previous 20 years as a welder in an underground copper mine, with exposure to silicon dioxide and was symptomatic. The first radiograph showed opacities that were compatible with pulmonary silicosis. A subsequent high-resolution computed tomography and lung biopsy showed a pattern of pulmonary siderosis. Due to the similarities in the radiographs of these three diseases, greater emphasis must be placed on the differential diagnosis, for which a complete occupational and clinical history is important in order to provide clues for the performance of complementary tests to avoid misdiagnosing. [ABSTRACT FROM AUTHOR]

Neonatal hemochromatosis (NH) is an uncommon, severe disorder that results in fetal loss or neonatal death due to liver failure. NH is currently regarded as the phenotypic expression of gestational alloimmune liver disease (GALD). The diagnosis of NH-GALD is rarely prenatally established. In addition to providing a systematic review of the prenatal features that are identifiable using ultrasound (US) and MRI, we suggest a prenatal diagnosis algorithm for use in suspected NH during the first affected pregnancy. From a total of 586 database entries identified in PubMed, Google Scholar, and ResearchGate, we selected 18 studies published from 1993 to 2021 that reported maternal medical and obstetric history, prenatal ultrasound findings, and postpartum outcomes. We investigated the ultrasound and MRI features of these studies, along with the outcome due to this condition. A total of 74 cases were identified. The main reported prenatal US finding was fetal growth restriction (FGR) (33%), followed by oligohydramnios (13%) and hydrops fetalis (13%), with 13% cases described as uneventful. Other rare prenatal findings were fetal anemia, ascites, and abnormal fetal liver and spleen. Most pregnancies ended with fetal/perinatal death or therapeutic interruption of pregnancy. Favorable evolution with treatment (ensanguine transfusion and intravenous immunoglobulin (IVIG)) was reported for only 7% of fetuses. Using T2-weighted MRI, fetal extrahepatic siderosis confirmed prenatally in two cases and postnatally in 11 cases. IVIG treatment throughout subsequent pregnancies was found to significantly improve fetal prognosis. MRI should be indicated in selected cases of oligohydramnios, fetal hydrops, fetal hepatomegaly, ascites, or unexplained FGR or anemia after ruling out all other more frequently encountered conditions. MRI can be used to detect iron overload in the liver and extrahepatic siderosis. [ABSTRACT FROM AUTHOR]

Superficial siderosis is a consequence of repetitive bleeding into the subarachnoid space, leading to toxic iron and hemosiderin deposits on the surface of the brain and spine. The clinical and radiological phenotypes of superficial siderosis are known to manifest over long time intervals. In contrast, this study defines the "acute superficial siderosis syndrome" and illustrates typical imaging and histopathological findings of this entity. We describe the case of a 61-year-old male patient who was diagnosed with a melanoma metastasis in the right frontal cortex in February 2019. Within a few weeks he developed a progressive syndrome characterized by cerebellar ataxia, gait disturbance, signs of myelopathy, and radiculopathy. MRI revealed ongoing hemorrhage from the metastasis into the lateral ventricle and the subarachnoid space. A semiquantitative assessment of three subsequent MRI within an 8-week period documented the rapid development of superficial siderosis along the surface of the cerebellum, the brain stem, and the lower parts of the supratentorial regions on T2*-weighted sequences. The diagnosis of a superficial siderosis was histopathologically confirmed by identifying iron and hemosiderin deposits on the cortex along with astrogliosis. The recognition of this "acute superficial siderosis syndrome" triggered surgical removal of the hemorrhagic metastasis. Based on a single case presentation, we define the "acute superficial siderosis syndrome" as a clinical entity and describe the radiological and histopathological characteristics of this entity. Early recognition of this syndrome may allow timely elimination of the bleeding source, in order to prevent further clinical deterioration. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: Hepatic iron overload resulting from multiple red cell transfusions over a long period of time is a complication of thalassemia major. Hepatocellular iron deposits with a decreasing gradient from periportal to centrilobular areas in the liver have been referred to as the HH pattern and those deposits primarily in reticuloendothelial cells and macrophages with occasional heterogeneous deposits in periportal hepatocytes are referred to as the non-HH pattern. Aims and Objectives: The purpose of this study was to evaluate patterns of liver siderosis in these patients and correlate with number of units of blood transfused. Materials and Methods: Thirty beta-thalassemia patients were selected, having splenomegaly and during splenectomy, liver biopsy was taken and sent for histopathology examination and pattern of siderosis was noted as HH (Hepatocytes), non-HH (Reticuloendothelial cells/Kupffer cells/macrophages) or HH; non-HH (Mixed). Results: Mean number of units transfused was 48.429±9.53 (SD) for patients having HH pattern of liver siderosis whereas it was 58.667±13.27 (SD) for patients having HH; non-HH pattern of liver siderosis. Independentsamples non-parametric Mann-Whitney U test was performed and P-value was found to be 0.028 which emphasized that total number of units of blood transfused vary significantly with two groups showing different patterns of siderosis. Conclusion: Hence, pattern of liver siderosis can be a good indicator for transfusional iron overload in beta-thalassemia major patients. [ABSTRACT FROM AUTHOR]

Hepatic splenosis, a rare entity, is the ectopic implantation of splenic tissue into the hepatic parenchyma, most often incidentally seen in patients with a history of splenic trauma and splenectomy. We present a unique case of hepatic splenosis in a patient with hemosiderosis and splenectomy following the incidental finding of hepatic masses on pretransplant imaging. Final diagnosis was made based on cross-sectional imaging characteristics matching that of the left upper quadrant splenules alone. We discuss common characteristics of hepatic splenosis on multiple modalities, the effect of iron deposition on the imaging characteristics of hepatic and splenic tissue and how that impacts the differential and diagnosis. This case highlights the unique imaging characteristics hepatic splenosis can have particularly in the setting of hemosiderosis. Hepatic splenosis imaging diagnosis has a significant advantage over tissue diagnosis in terms of decreased risk, time and cost.

Disruption of cerebral iron regulation appears to have a role in aging and in the pathogenesis of various neurodegenerative disorders. Possible unfavorable impacts of iron accumulation include reactive oxygen species generation, induction of ferroptosis, and acceleration of inflammatory changes. Whole-brain iron-sensitive magnetic resonance imaging (MRI) techniques allow the examination of macroscopic patterns of brain iron deposits in vivo, while modern analytical methods ex vivo enable the determination of metal-specific content inside individual cell-types, sometimes also within specific cellular compartments. The present review summarizes the whole brain, cellular, and subcellular patterns of iron accumulation in neurodegenerative diseases of genetic and sporadic origin. We also provide an update on mechanisms, biomarkers, and effects of brain iron accumulation in these disorders, focusing on recent publications. In Parkinson's disease, Friedreich's disease, and several disorders within the neurodegeneration with brain iron accumulation group, there is a focal siderosis, typically in regions with the most pronounced neuropathological changes. The second group of disorders including multiple sclerosis, Alzheimer's disease, and amyotrophic lateral sclerosis shows iron accumulation in the globus pallidus, caudate, and putamen, and in specific cortical regions. Yet, other disorders such as aceruloplasminemia, neuroferritinopathy, or Wilson disease manifest with diffuse iron accumulation in the deep gray matter in a pattern comparable to or even more extensive than that observed during normal aging. On the microscopic level, brain iron deposits are present mostly in dystrophic microglia variably accompanied by iron-laden macrophages and in astrocytes, implicating a role of inflammatory changes and blood–brain barrier disturbance in iron accumulation. Options and potential benefits of iron reducing strategies in neurodegeneration are discussed. Future research investigating whether genetic predispositions play a role in brain Fe accumulation is necessary. If confirmed, the prevention of further brain Fe uptake in individuals at risk may be key for preventing neurodegenerative disorders. [ABSTRACT FROM AUTHOR]

Hereditary hemochromatosis is an autosomalrecessive disorder that disturbs iron metabolismand results in iron deposition throughout the body.Iron accumulation in various organs may cause awide range of systemic symptoms and cutaneousmanifestations of the disease are particularlystriking. Classically, hereditary hemochromatosis hasbeen termed “bronze diabetes.” Although diffusehyperpigmentation is a well-described feature ofthis disease, other cutaneous symptoms may alsooccur, and a variety of anomalies may be observed.We present a case of long-standing hereditaryhemochromatosis associated with hypopigmentedplaques, which were found to be seborrheic keratoseson histologic examination. The cutaneous findingsin hereditary hemochromatosis are summarized andan unusual case of seborrheic keratosis manifestingas hypopigmented plaques in a man with hereditaryhemochromatosis is described. PubMed was usedto search the following terms: hemochromatosis,hereditary, hyperpigmentation, hypopigmentation,keratosis, melanin, seborrheic, siderosis. Despitethe generalized hyperpigmentation that is usuallyobserved in hereditary hemochromatosis, seborrheickeratosis may present rarely as hypopigmented lesionsin individuals affected by this disease. Therefore,seborrheic keratoses should be considered in thedifferential diagnosis in hemochromatosis patientswho present with uncharacteristic pigmentation

Neonatal hemochromatosis is a rare condition that causes neonatal liver failure, frequently resulting in fetal loss or neonatal death. It is thought that most cases of neonatal hemochromatosis are caused by gestational alloimmune liver disease (GALD), with neonatal hemochromatosis being a phenotype of GALD rather than a disease process. Extrahepatic siderosis in the pancreas, myocardium, thyroid and minor salivary gland is a characteristic feature of neonatal hemochromatosis. There is also sparing of the reticuloendothelial system with no iron deposition in the spleen. Hepatic and extrahepatic siderosis seen in neonatal hemochromatosis is from iron dysregulation secondary to liver damage rather than iron deposition causing the liver damage. The presence of extrahepatic siderosis in the pancreas and thyroid is diagnostic of neonatal hemochromatosis and can be detected noninvasively by multi-echo gradient recalled echo (GRE) T2*-weighted sequence of MRI within hours of birth. This helps to expedite the treatment in the form of intravenous immunoglobulin and exchange transfusion, which improves the survival in these babies. The finding of hepatic siderosis is nonspecific and does not help in the diagnosis of neonatal hemochromatosis because it is seen with other causes of advanced liver disease. [ABSTRACT FROM AUTHOR]

The spleen, which has a vitally important function in the body, is located in the left part of the abdomen. The spleen"s primary tasks are hematopoiesis and immunity, such as the reservoir of blood cells and the production of the immune system"s defense cells. On most occasions -due to the lack of clinical manifestation- splenic disorders are coincidental findings at surgery despite their prevalence. Splenosis is a heterotopic autotransplantation of splenic tissue in other body compartments, which may be interpreted as a pathological entity through imaging techniques. Foreign substance accumulation, such as iron deposition, namely siderosis, may be monitored in the spleen due to the aging process. The pathologies of the spleen are mostly characterized by the enlargement of the organ (splenomegaly). Hemangiosarcoma is the most frequently encountered neoplasia in the spleen, usually metastasizing to the heart"s right atrium. Ultrasonography is the most commonly utilized diagnostic tool in splenic disorders. Besides, the magnetic resonance imaging (MRI) and computed tomography (CT) techniques may be applied. Whole blood, plasma, or both are prerequisites that should be kept at disposal in the preoperative approach to the splenic disorders. Surgical interventions of splenic pathologies include splenorrhaphy, partial splenectomy, and total splenectomy. Splenic injuries usually result from blunt trauma. Surgery is not an indication unless there is a life-threatening amount of blood loss. Splenic torsion, which is an acute disorder of the spleen usually encountered in deep-chested dog breeds due to gastric dilatation and volvulus presents a diagnostic challenge. Total splenectomy is the favored treatment of choice in the approach of the relevant conditions rather than splenic derotation. Early phase complications include hemorrhage, cardiac arrhythmia, and ischemia in the pancreas and gastric wall, and metastasis and gastric dilatation and volvulus appear as the complications of the postoperative course. This review has aimed to open a new gate to better understanding the importance and functions of the spleen in normal physiology and also aimed to share information about the diagnostic tools and guide through to apply appropriate surgical approach in term of disorders.

Competing Interests: The authors have no conflicts of interest to report.

Objectives: Iatrogenic cutaneous siderosis is a well-recognized dermatologic complication after parenteral iron infusion. The condition manifests as discrete, hyperpigmented patches near the site of injection. Most cases do not resolve spontaneously, leading to significant aesthetic and psychological distress to patients. A recent case of iatrogenic cutaneous siderosis at our institution prompted a systematic review of the efficacy of energy-based devices previously reported in the treatment of this condition., Methods: PubMed and Cochrane databases were searched for all peer-reviewed articles published using the following search terms: "iron OR heme OR hemosiderosis OR siderosis" and "hyperpigmentation OR staining OR tattoo." Articles reporting on energy-based devices in the treatment of iron-induced hyperpigmentation were included., Results: A total of seven articles and 54 total patients were included in this review. All patients, including the patient treated at our institution, were female, with an average age of 44 years. Hyperpigmentation was most commonly associated with intravenous iron infusion (48/54, 89%), on the arm or forearm (44/54, 81%), and used for the treatment of underlying iron deficiency anemia (54/54, 100%). The application of six different nanosecond or picosecond quality-switched laser systems was reported in the treatment of cutaneous siderosis, with wavelengths ranging from 532 to 1064 nm. Spot sizes varied between 2 and 7 mm, with energy fluences spanning 0.5-40 J/cm 2 depending on both the device and spot size. Outcomes were measured after an average of 5.4 laser treatments and 10.4 months, with over half of all reported patients experiencing complete clearance (27/50, 54%). Our patient received treatment in three test areas with picosecond alexandrite 785 nm, nanosecond Nd:YAG 532 nm, and picosecond Nd:YAG 532 nm devices. The nanosecond Nd:YAG 532 nm treated area demonstrated the greatest improvement, and the entire arm was subsequently treated with this device., Conclusions: Despite the often intractable nature of iatrogenic cutaneous siderosis, laser surgery is a reasonable and safe treatment modality for patients seeking cosmetic improvement of this dyschromia. Dermatologists should be aware of this entity and the efficacy of the energy-based devices currently in our armamentarium. A combination approach may need to be utilized with different wavelengths and pulsed widths to target iron pigment in both dermal and subcutaneous layers., (© 2024 Wiley Periodicals LLC.)

Objective: To define the neuropsychological and neuroimaging characteristics of classical infratentorial superficial siderosis (iSS), a rare but disabling disorder defined by hemosiderin deposition affecting the superficial layers of the cerebellum, brainstem and spinal cord, usually associated with a slowly progressive neurological syndrome of deafness, ataxia and myelopathy. Methods: We present the detailed neuropsychological and neuroimaging findings in 16 patients with iSS (mean age 57 years; 6 female). Results: Cognitive impairment was present in 8/16 (50%) of patients: executive dysfunction was the most prevalent (44%), followed by impairment of visual recognition memory (27%); other cognitive domains were largely spared. Disease symptom duration was significantly correlated with the number of cognitive domains impaired (r = 0.59, p = 0.011). Mood disorders were also common (anxiety 62%, depression 38%, both 69%) but not associated with disease symptom duration. MRI findings revealed siderosis was not only in infratentorial brain regions, but also in characteristic widespread symmetrical supratentorial brain regions, independent of disease duration and degree of cognitive impairment. The presence of small vessel disease markers was very low and did not account for the cognitive impairment observed. Conclusion: Neuropsychological disturbances are common in iSS and need to be routinely investigated. The lack of association between the anatomical extent of hemosiderin and cognitive impairment or disease duration suggests that hemosiderin itself is not directly neurotoxic. Additional biomarkers of iSS disease severity and progression are needed for future research and clinical trials. [ABSTRACT FROM AUTHOR]

Background: Delays in the diagnosis of a ferrous intraocular foreign body (IOFB) have been shown to result in ocular sinerosis and subsequent loss of visual function. Purpose: To report a case of a missed ferrous IOFB with subsequent apparent ocular siderosis, visual loss and severe complications. Material and Methods: Visual acuity assessment and comprehensive eye examination were performed, and an X-ray of the eye and orbit taken. Results: A 25 year-old male patient had a history of hammer-and-chisel (metal-related) injury to the right eye and was treated conservatively. A year after the traumatic event, the eye had phacoemulsification with intraocular lens (IOL) implantation at a local clinic. Two years thereafter, the patient presented to the Filatov institute, and was diagnosed with grade 3 ocular siderosis, artifakia and rhegmatogenous retinal detachment OD. During pars plana vitrectomy, a preretinal IOFB was found and removed. Four months thereafter, the patient was re-hospitalized and received a repeat pars plana vitrectomy and 5700-cSt silicone oil tamponade of the vitreous cavity for retinal re-detachment OD. At discharge, the ophthalmoscopy and ultrasound examination showed a re-attached retina. Conclusion: The reported case of missed IOFB highlights the importance of early diagnosis and removal of IOFB to prevent siderosis and subsequent serious complications.

Objectives: Our aim was to evaluate the detectability of cortical superficial siderosis (cSS) by 3D FLAIR and 3D DIR images in comparison with the SWI images in patients with cognitive dysfunction.Methods: We studied 246 patients with cognitive dysfunction (144 women, 102 men; mean age: 75.5 ± 7.53 years) who visited a memory clinic at our hospital and underwent MR examinations at 3 T. Specifically, 16 patients with Alzheimer disease (AD) (n = 11) and AD with cerebrovascular disease (n = 5) manifested cSS based on SWI. Each set of MR images (3D FLAIR and 3D DIR) was reviewed by two reviewers separately for the detection of sulcal hyperintensity that suggested cSS.Results: SWI detected a greater number of cSS sulci than 3D DIR and 3D FLAIR. The sensitivity and specificity for the detection of sulcal hyperintensity were the same between 3D FLAIR and 3D DIR (87.5%/100%). However, 3D DIR detected a greater number of cSS sulci than 3D FLAIR (p = .005).Conclusions: Our study showed that 3D DIR and 3D FLAIR can detect sulcal hyperintensity related to cSS although they are less sensitive to cSS lesions than SWI.Key Points: • 3D FLAIR and 3D DIR can show sulcal signal abnormalities related to cSS in patients with cognitive dysfunction. • 3D FLAIR and 3D DIR detect sulcal hyperintensity of cSS, although they are less sensitive to cSS than SWI. • Signal alterations due to cSS are more detectable in 3D DIR than in 3D FLAIR. [ABSTRACT FROM AUTHOR]

Superficial siderosis is a disease in which iron from hemoglobin is deposited in the central nervous system, resulting in conditions such as progressive sensorineural hearing loss, cerebellar ataxia, dementia, and pyramidal signs. A 30-year-old man with superficial siderosis received a cochlear implant in the left ear, which had shown complete hearing loss. Good auditory responses were obtained at 14 days after implantation. The postoperative average hearing level with the cochlear implant was 56.7 dB at 3 months and 55.0 dB at 6 months. However, the patient showed gradual hearing loss, and the dynamic range changed each time the electrode parameters were adjusted. To assess residual hearing ability, single-photon emission computed tomography was performed together with an assessment of electrical auditory brainstem response, which showed a good response and increased blood flow in both the temporal lobes. Based on this result, we asked the patient to continue using the cochlear implant to see whether a perception of speech response would be obtained. However, the patient discontinued using the cochlear implant because he could not hear satisfactorily. Hearing outcomes after cochlear implant surgery for patients with superficial siderosis are not necessarily good. Therefore, the possibility of unsatisfactory results should be fully explained before recommending this surgery to patients. [ABSTRACT FROM AUTHOR]

Objective: Unusual clinical course. 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. [ABSTRACT FROM AUTHOR]

Hemochromatosis, also known as siderosis, is a disease caused by excessive iron deposition in human organs and tissues, resulting from iron metabolism disorders. It is clinically characterized by skin pigmentation (bronze color), liver cirrhosis, diabetes, weakness, and fatigue. Additional symptoms may include arthritis, hypothyroidism, heart failure, and sexual hypofunction. Clinical manifestations can vary from person to person, with a few patients showing no clinical manifestations, which makes the diagnosis difficult for clinicians. In this case report, we described hereditary hemochromatosis related to a mutation in the HAMP gene in Fuyang City, China, as a reference for clinicians. Hereditary hemochromatosis is rarely reported in China. Clinicians in China have relatively insufficient knowledge of this disease, which leads to frequent misdiagnosis. In this case report, we describe hereditary hemochromatosis related to HAMP gene mutation in Fuyang City, China, for the clinician's reference., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Wang, Xu, Jiang, Liu, Li, Wang, Wang, Chu, Tan and Li.)

Background: In the phase 2 PACIFIC-STROKE trial (Proper Dosing and Safety of the Oral FXIa Inhibitor BAY 2433334 in Patients Following Acute Noncardioembolic Stroke), asundexian, an oral factor XIa inhibitor, did not increase the risk of hemorrhagic transformation (HT). In this secondary analysis, we aimed to investigate the frequency, types, and risk factors of HT on brain magnetic resonance imaging (MRI)., Methods: This was a secondary analysis of the PACIFIC-STROKE trial. Patients with mild-to-moderate acute noncardioembolic ischemic stroke were randomly assigned to asundexian or placebo plus guideline-based antiplatelet therapy. Brain MRIs were required at baseline (≤120 hours after stroke onset) and at 26 weeks or end-of-study. HT was defined using the Heidelberg classification and classified as early HT (identified on baseline MRI) or late HT (new HT by 26 weeks) based on iron-sensitive sequences. Multivariable logistic regression models were used to test factors that are associated with early HT and late HT, respectively., Results: Of 1745 patients with adequate baseline brain MRI (mean age, 67 years; mean National Institutes of Health Stroke Scale score, 2.8), early HT at baseline was detected in 497 (28.4%). Most were hemorrhagic infarctions (hemorrhagic infarction type 1: 15.2%; HI2: 12.7%) while a few were parenchymal hematomas (parenchymal hematoma type 1: 0.4%; parenchymal hematoma type 2: 0.2%). Early HT was more frequent with longer symptom onset-to-MRI interval. Male sex, diabetes, higher National Institutes of Health Stroke Scale large (>15 mm) infarct size, cortical involvement by infarct, higher number of acute infarcts, presence of chronic brain infarct, cerebral microbleed, and chronic cortical superficial siderosis were independently associated with early HT in the multivariable logistic regression model. Of 1507 with follow-up MRI, HT was seen in 642 (42.6%) overall, including 361 patients (23.9%) with late HT (new HT: 306; increased grade of baseline HT: 55). Higher National Institutes of Health Stroke Scale, large infarct size, cortical involvement of infarct, and higher number of acute infarcts predicted late HT., Conclusions: About 28% of patients with noncardioembolic stroke had early HT, and 24% had late HT detectable by MRI. Given the high frequency of HT on MRI, more research is needed on how it influences treatment decisions and outcomes., Competing Interests: Disclosures Dr Caso reports consulting for Boehringer Ingelheim, a grant from Daichi Sankyo, and other funding from EVER Neuro Pharma. Dr Christensen reports being employed by the Capital Region of Denmark, and consulting for Alexion Pharmaceuticals, Boehringer Ingelheim, Bristol Myers Squibb, Daichi Sankyo, and Medtronic. Dr Connolly reports grants from AtriCure Inc and Pfizer and consulting for Bristol Myers Squibb, Daichi Sankyo, and Javelin Ventures. Dr Khatri reports grants from the National Institutes of Health; a grant from Johnson and Johnson Health Care Systems; royalties from UpToDate; consulting for Basking Biosciences, Lumosa, and Shinogi Inc; and other funding from Translational Sciences. Dr Chen reports no disclosures, or their institutions received financial support from Bayer for participation in the PACIFIC-Stroke trial (Proper Dosing and Safety of the Oral FXIa Inhibitor BAY 2433334 in Patients Following Acute Noncardioembolic Stroke).

Competing Interests: Disclosures Dr Greenberg serves on the Data and Safety Monitoring Committees of Bayer and the DIAN-TU trial, is a consultant for Eli Lilly, and receives royalties from Up To Date. Massachusetts General Hospital receives institutional support for the consultant services of Dr Greenberg from Alnylam. Dr van Veluw has consulted for Biogen and Eisai, and her lab receives research support from Therini Bio and Sanofi.

The spleen, which has a vitally important function in the body, is located in the left part of the abdomen. The spleen's primary tasks are hematopoiesis and immunity, such as the reservoir of blood cells and the production of the immune system's defense cells. On most occasions -due to the lack of clinical manifestation- splenic disorders are coincidental findings at surgery despite their prevalence. Splenosis is a heterotopic autotransplantation of splenic tissue in other body compartments, which may be interpreted as a pathological entity through imaging techniques. Foreign substance accumulation, such as iron deposition, namely siderosis, may be monitored in the spleen due to the aging process. The pathologies of the spleen are mostly characterized by the enlargement of the organ (splenomegaly). Hemangiosarcoma is the most frequently encountered neoplasia in the spleen, usually metastasizing to the heart's right atrium. Ultrasonography is the most commonly utilized diagnostic tool in splenic disorders. Besides, the magnetic resonance imaging (MRI) and computed tomography (CT) techniques may be applied. Whole blood, plasma, or both are prerequisites that should be kept at disposal in the preoperative approach to the splenic disorders. Surgical interventions of splenic pathologies include splenorrhaphy, partial splenectomy, and total splenectomy. Splenic injuries usually result from blunt trauma. Surgery is not an indication unless there is a life-threatening amount of blood loss. Splenic torsion, which is an acute disorder of the spleen usually encountered in deep-chested dog breeds due to gastric dilatation and volvulus presents a diagnostic challenge. Total splenectomy is the favored treatment of choice in the approach of the relevant conditions rather than splenic derotation. Early phase complications include hemorrhage, cardiac arrhythmia, and ischemia in the pancreas and gastric wall, and metastasis and gastric dilatation and volvulus appear as the complications of the postoperative course. This review has aimed to open a new gate to better understanding the importance and functions of the spleen in normal physiology and also aimed to share information about the diagnostic tools and guide through to apply appropriate surgical approach in term of disorders. [ABSTRACT FROM AUTHOR]

Intravenous ferric carboxymaltose is increasingly used to treat iron deficiency. However, a common side- effect is paravenous extravasation of iron preparations, resulting in cutaneous siderosis. Quality-switched (QS) lasers and, recently, picosecond (PS) lasers have been used to treat these hyperpigmentations with variable success. The optimal treatment protocol remains unclear. The aims of this study were to assess the response of cutaneous siderosis to treatment with pigment lasers and to determine the optimal wavelength, number of treatment sessions and pulse duration. Fifteen patients with cutaneous siderosis on the arms were included. The effectiveness of laser treatment was evaluated using a 5-point standard Physician Global Assessment (PGA) grading system. Differences in continuous variables between distinct groups of patients were assessed with a Mann-Whitney U test. In all 15 patients clearance of at least 50% was obtained. In 12 patients, at least 75% of pigment was removed. In conclusion, pigment lasers are an effective and safe method to treat cutaneous siderosis. [ABSTRACT FROM AUTHOR]