The role of apoptosis and oxidative stress in the pathophysiology of Acanthamoeba spp. infection in the kidneys of hosts with different immunological status.

BACKGROUND: Acanthamoeba spp. are opportunistic pathogens that cause inflammation, mostly in the brain, lungs and cornea. Recent reports indicate kidney dysfunction in hosts with systemic acanthamoebiasis. The aim of the study was to analyze the gene expression and protein concentration of NADPH oxidase 2 and 4 (NOX2 and NOX4, respectively) and nuclear erythroid 2-related factor (Nrf2) in the kidneys of hosts with systemic acanthamoebiasis. We also aimed to determine the protein and gene expressions of Bcl2, Bax, caspases 3 and 9. METHODS:  Mice were divided into four groups based on their immunological status and Acanthamoeba sp. infection: A, immunocompetent Acanthamoeba sp.-infected mice; AS, immunosuppressed Acanthamoeba sp.- infected mice; C, immunocompetent uninfected mice; CS, immunosuppressed uninfected mice. NOX2, NOX4 and Nrf2 were analyzed by quantitative reverse transcription PCR (qRT-PCR) and ELISA methods, while pro-apoptotic and anti-apoptotic proteins (Bax and Bcl-2, respectively), Cas9, Cas3 were analyzed by qRT-PCR and western blot methods.  RESULTS: Increased gene expression and/or protein concentration of NOX2 and NOX4 were found in both immunocompetent and immunosuppressed mice infected with Acanthamoeba sp. (groups A and AS, respectively). Gene expression and/or protein concentration of Nrf2 were higher in group A than in control animals. Compared to control mice, in the AS group the expression of the Nrf2 gene was upregulated while the concentration of Nrf2 protein was decreased. Additionally in A group, higher gene and protein expression of Bcl-2, and lower gene as well as protein expression of Bax, caspases 3 and 9 were noted. In contrast, the AS group showed lower gene and protein expression of Bcl-2, and higher gene as well as protein expression of Bax, caspases 3 and 9. CONCLUSIONS: This study is the first to address the mechanisms occurring in the kidneys of hosts infected with Acanthamoeba sp. The contact of Acanthamoeba sp. with the host cell surface and/or the oxidative burst caused by elevated levels of NOXs lead to an antioxidant response enhanced by the Nrf2 pathway. Acanthamoeba sp. have various strategies concerning apoptosis. In immunocompetent hosts, amoebae inhibit the apoptosis of kidney cells, and in immunosuppressed hosts, they lead to increased apoptosis by the intrinsic pathway and thus to a more severe course of the disease.

Demodex Species and Culturable Microorganism Co-Infestations in Patients with Blepharitis.

We aimed to determine the prevalence of Demodex spp. and bacterial infection in patients with blepharitis and also to investigate the relationship between culturable microorganisms and Demodex spp. in this study. The study included patients diagnosed with blepharitis (n = 128) and volunteers without ocular problems (n = 113). Eyelash sampling was performed by epilating eight lashes, which were then tested for Demodex spp. using a light microscope. The examination consisted of assessing the patient's vision with and without ocular correction and tonus in both eyes and a careful examination of the anterior segment of both eyes. Bacterial identification was performed based on morphological, physiological, and biochemical methods. The prevalence of Demodex spp. was 8.0% in patients from the control group and all patients with blepharitis. Isolated forms of Demodex spp. were detected in all infested patients in the control group and in 58% of patients with blepharitis. A total of 35% of patients with blepharitis had from three to nine forms of Demodex spp., and 7% of patients with blepharitis had more than 10 mites in every field of vision. We found a statistically significant relationship between Demodex spp. infestation and the occurrence of eye dryness and sensations of burning and tearing, redness of the conjunctiva, feeling of a foreign body, loss of eyelashes, Meibomian gland dysfunction, and cylindrical dandruff. There were statistically significant relationships between Demodex sp. infestation and the presence of hyperopia, Meibomian cysts, chronic eyelid inflammation, and the use of eyeglasses. There was also a statistically significant relationship between the occurrence of Demodex spp. and seborrheic dermatitis and diabetes mellitus. Culturable microorganisms of the ocular surface were found in 8.7% of participants who were uninfested and in all patients infested with D. folliculorum. We isolated Staphylococcus aureus, Acinetobacter baumannii, Streptococcus pneumoniae, Klebsiella oxytoca, and Bacillus spp. from the conjunctival sac only in patients infested with D. folliculorum. This indicates an increased probability of colonization by pathogenic bacteria in patients with demodicosis. Therefore, patients infested with D. folliculorum should undergo a microbiological examination of conjunctival swabs.

Iron, Zinc, Copper, Cadmium, Mercury, and Bone Tissue.

The paper presents the current understanding on the effects of five metals on bone tissue, namely iron, zinc, copper, cadmium, and mercury. Iron, zinc, and copper contribute significantly to human and animal metabolism when present in sufficient amounts, but their excess or shortage increases the risk of developing bone disorders. In contrast, cadmium and mercury serve no physiological purpose and their long-term accumulation damages the osteoarticular system. We discuss the methods of action and interactions between the discussed elements as well as the concentrations of each element in distinct bone structures.

Potential Biomarkers in Diagnosis of Renal Acanthamoebiasis.

Recent studies indicate that Acanthamoeba spp. may play a significant role in kidney dysfunction. The aim of the study was to examine the levels of kidney injury molecule 1 (KIM-1), neutrophil gelatinase-associated lipocalin (NGAL), and monocyte chemotactic protein 1 (MCP-1), as well as an activity of matrix metalloproteinases 2 and 9 (MMP-2 and MMP-9, respectively) in the kidneys of immunocompetent and immunosuppressed mice infected with Acanthamoeba spp. The levels of KIM-1, NGAL, and MCP-1 were analyzed by enzyme-linked immunosorbent assay (ELISA), and the activity of MMPs was determined by gelatin zymography. The elevated KIM-1 level was found in the kidneys of immunocompetent mice at the beginning of Acanthamoeba spp. infection. In the immunosuppressed mice, the KIM-1 level was statistically different. The statistically decreased NGAL level was found in the kidneys of immunocompetent mice compared to the uninfected mice. In the immunocompromised mice, we found statistically significant differences in MCP-1 levels between the uninfected and infected groups. There was an increase in the expression of both MMP-2 and MMP-9 in the kidneys of immunocompetent and immunosuppressed mice infected with Acanthamoeba spp. compared to the uninfected mice. The results indicate that KIM-1, NGAL, MCP-1, MMP-2, MMP-9, and MMP-9/NGAL might be promising biomarkers of renal acanthamoebiasis.

Immunopathogenicity of Acanthamoeba spp. in the Brain and Lungs.

Free-living amoebas, including Acanthamoeba spp., are widely distributed in soil, water, and air. They are capable of causing granulomatous amebic encephalitis, Acanthamoeba pneumonia, Acanthamoeba keratitis, and disseminated acanthamoebiasis. Despite low occurrence worldwide, the mortality rate of Acanthamoeba spp. infections is very high, especially in immunosuppressed hosts. Acanthamoeba infections are a medical problem, owing to limited improvement in diagnostics and treatment, which is associated with incomplete knowledge of pathophysiology, pathogenesis, and the host immune response against Acanthamoeba spp. infection. The aim of this review is to present the biochemical and molecular mechanisms of Acanthamoeba spp.-host interactions, including the expression of Toll-like receptors, mechanisms of an immune response, the activity of metalloproteinases, the secretion of antioxidant enzymes, and the expression and activity of cyclooxygenases. We show the relationship between Acanthamoeba spp. and the host at the cellular level and host defense reactions that lead to changes in the selected host's organs.

Antioxidant defense in the eyes of immunocompetent and immunosuppressed mice infected with Acanthamoeba spp.

BACKGROUND: Acanthamoeba spp. are ubiquitous pathogens which cause granulomatous amoebic encephalitis and disseminated infection. Moreover, Acanthamoeba spp. infection of the cornea leads to Acanthamoeba keratitis. Our previous study showed that the infection of an eyeball may also take place via the migration of trophozoites through the optic nerve from the brain to the eyes. The aim of the study was to analyze the activity of enzymatic antioxidants and the concentration of non-enzymatic antioxidant in the eyes of immunocompetent and immunocompromised mice with disseminated acanthamoebiasis. RESULTS: In the immunocompetent mice infected with Acanthamoeba spp. we noted a significant decrease in catalase activity at 8 and 16 days post-infection (dpi). Glutathione reductase activity was significantly lower at 16 dpi compared to the control group and glutathione concentration was statistically higher at 24 dpi than in the control group. In the immunosuppressed mice, a statistically significant increase in glutathione concentration in the eye samples was found at 16 dpi compared to those not infected with Acanthamoeba spp. In the immunosuppressed mice infected with Acanthamoeba spp., glutathione peroxidase activity was statistically lower at 8 dpi, and glutathione concentration was statistically significantly higher at 16 dpi compared to the control group. CONCLUSIONS: The inflammatory response in the eyes of hosts with experimental acanthamoebiasis led to changes in the activity of enzymatic antioxidants and the content of non-enzymatic antioxidant. Therefore, the dysregulation of antioxidants may play a role in the pathomechanism of Acanthamoeba eye infection.

Impact of Varied Factors on Iron, Nickel, Molybdenum and Vanadium Concentrations in the Knee Joint.

The aim of this study was to determine the concentrations of iron, nickel, molybdenum, and vanadium in the knee joint. We also examined the relationships between the concentrations of these metals in the knee joint and the influence of varied factors on the concentration of Fe, Ni, Mo, and V. The study of these trace elements is important, because these elements are used alone and in combination in diet supplements, and they are components of biomaterials implanted in medicine. The study materials, consisting of the spongy bone, cartilage, meniscus, anterior cruciate ligament (ACL), and infrapatellar fat pad, were obtained from 34 women and 12 men from northwestern Poland. The concentrations of Ni, Fe, Mo, and V were determined using spectrophotometric atomic absorption in inductively coupled argon plasma (ICP-AES). We found significantly higher Mo concentrations in the ACL of women than men. There was a significant difference in the Mo concentration in the spongy bone between patients from cities with fewer than 100,000 inhabitants and patients from cities with more than 100,000 residents. Iron concentrations in the spongy bone were higher in non-smoking patients and those who did not consume alcohol. Vanadium concentrations were higher in the infrapatellar fat pads in abstainers. In patients who had not undergone arthroscopy surgery, V concentration was lower in cartilage. The concentrations of V in the cartilage and infrapatellar fat pad were higher in osteoporotic patients than in non-osteoporotic patients. There were significant differences in Fe concentrations in the meniscus, with the lowest in osteoporotic patients. We noted lower Mo concentrations in the spongy bone of patients with rheumatoid arthritis. Furthermore, we noted some new interactions among metals in the studied structures of the knee joint. The results reported in this study show the influence of gender, place of residence, smoking, consumption of alcohol, arthroscopy surgery, osteoporosis, and rheumatoid arthritis on the Fe, Ni, Mo, and V concentrations in the studied structures of the knee joint.

Long-term outcome in patients after treatment for Cushing's disease in childhood.

INTRODUCTION: Cushing's disease (CD) is a rare cause of hypercortisolemia presenting a major diagnostic and therapeutic challenge. Data on pituitary function in long-term follow-up after CD treatment in childhood is limited. AIM: Long-term assessment of patients of the Children's Memorial Health Institute (CMHI) after CD treatment in childhood. MATERIALS AND METHODS: Retrospective analysis of 29 CD patients, mean age at the time of diagnosis 13.46 yrs. The long-term follow-up (FU) was done by: 1) obtaining the data from a patient's questionnaire (75% of adult patients); 2) using the data from the last clinic visit for patients who did not respond to the questionnaire and for current CMHI patients. The average long-term FU from transsphenoidal pituitary surgery (TSS) was 10.23 yrs. RESULTS: At the latest FU: 18 patients (62%) had long-term disease remission after TSS1, 2 patients (6.9%) after TSS2, 1 patient (3.4%) after the post-TSS radiotherapy (XRT) cycle and 3 patients (10.3%) after bilateral adrenalectomy (BA). One patient (3.4%) died after TSS2 due to postoperative complications, 1 patient (3.4%) had persistent disease at latest FU, in 1 patient (3.4%) the long-term FU was not possible to perform. CD recurrence occurred in 4 out of 28 patients (14%) at an average time 3.6 yrs. from definitive treatment. One patient (3.4%) after BA was operated because of Nelson's syndrome. Two patients (6.9%) were suspected of relapse at latest assessment. At the time of the last evaluation, 17 patients (63%) were on levothyroxine therapy since definitive treatment, 16 patients (59%) were on hydrocortisone treatment, 10 patients (37%) were taking sex hormones replacement, 4 patients (15%)-antidiuretic hormone. CONCLUSIONS: Relatively large number of patients after CD treatment in childhood have hormonal pituitary deficits as well as mood and cognitive disorders. CD recurrence can occur even after a long time post effective treatment.

Expression of Toll-Like Receptors (TLR2 and TLR4) in the Eyes of Mice with Disseminated Acanthamoebiasis.

Toll-like receptors (TLRs) play a key role in the innate immune response to numerous pathogens, including Acanthamoeba spp. The aim of this study was to determine the expression of TLR2 and TLR4 in the eyes of mice following intranasal infection with Acanthamoeba spp. in relation to the host's immunological status. Amoebae used in this study were isolated from the bronchial aspirate of a patient with acute myeloid leukemia (AML) and atypical symptoms of pneumonia. We found statistically significant differences in the expression of TLR2 and TLR4 in the eye of immunocompetent mice at 8, 16, and 24 days after Acanthamoeba spp. infection (dpi) compared to control group. Immunosuppressed mice showed significant differences in the expression of TLR2 at 16 and 24 dpi compared to uninfected animals. Our results indicate that TLR2 and TLR4 are upregulated in the eyes of mice in response to Acanthamoeba spp. We suggest that it is possible for trophozoites to migrate through the optic nerve from the brain to the eyes. The course of disseminated acanthamoebiasis may be influenced by the host's immunological status, and the observed changes in expression of TLR2 and TLR4 in the host's organs may indicate the role of these receptors in the pathomechanism of acanthamoebiasis.

Changes in the immune system in experimental acanthamoebiasis in immunocompetent and immunosuppressed hosts.

BACKGROUND: Acanthamoebiasis is most often found in patients with immune deficiency, with infections facilitated by the intake of immunosuppressive drugs. The host immune response to Acanthamoeba spp. infection is poorly understood. Thus, in this study, we aimed to examine the course of Acanthamoeba spp. infection taking into account the host's immunological status, including assessment of the hematological parameters, cytokine analysis, immunophenotypic changes in spleen populations, and histological spleen changes, which could help clarify some aspects of the immune response to acanthamoebiasis. In our experimental study, we used Acanthamoeba strain AM 22 isolated from the bronchoaspirate of a patient with acute myeloid leukaemia (AML) and atypical pneumonia symptoms. RESULTS: Acanthamoeba spp. affected the hematological parameters in immunocompetent and immunosuppressed mice and induced a change in spleen weight during infection. Moreover, analysis of anti-inflammatory (IL-4 and IL-10) and pro-inflammatory (IL-17A and IFN-γ) cytokines produced by splenocytes stimulated with concanavalin A demonstrated that Acanthamoeba spp. induced a selective Th1, Th2 and Th17 response at later stages of the infection in immunocompetent hosts. In the case of hosts with low immunity, Acanthamoeba elicited robust Th1 cell-mediated immunity without the participation of Th17. We observed suppression of CD8+ and CD4+ T lymphocytes and CD3+CD4-CD8- double-negative (DN) T lymphocyte populations in the beginning, and in the case of CD3+/CD4+/CD8+ double-positive (DP) T cells in the final phase of Acanthamoeba spp. infection in hosts with low immunity. Also, CD4+T lymphocytes and CD3+/CD4+ and CD3+/CD8+ lymphocyte counts during each stage of acanthamoebiasis were shown to be upregulated. CONCLUSIONS: We demonstrated that analysis of the immune response and pathogenesis mechanisms of clinical isolates of Acanthamoeba spp. in an animal model not only has purely cognitive significance but above all, may help in the development of effective methods of pharmacological therapy especially in patients with low immunity.

Calcium, magnesium, zinc and lead concentrations in the structures forming knee joint in patients with osteoarthritis‬.

The aim of the study was to investigate the relationships between the concentrations of calcium (Ca), magnesium (Mg), zinc (Zn), and lead (Pb) in cartilage, anterior cruciate ligament, and meniscus samples obtained following knee joint surgery in patients with osteoarthritis in northwestern Poland.‬ Furthermore, we examined the relationships between the concentrations of these metals in the studied parts of the knee joint and the influences of gender, age, BMI and hypertension. We found significantly higher concentrations of Ca, Mg, and Zn in the cartilage of men than in women and a significantly higher Pb concentration in the meniscus of the men. We also found a higher concentration of Pb in the cartilage of patients over 65 years of age.‬ There were no differences in the concentrations of the studied metals between patients with and without hypertension.‬ There was no relationship between Ca, Mg, Zn, and Pb levels in analyzed materials and BMI. Furthermore, we noted some new interactions between metals in the studied structures of the knee joint. The results reported in the study shows the influence of age, gender and BMI on the Ca, Mg, Zn and Pb in the studied structures of the knee joint.

Concentrations of mercury (Hg) and selenium (Se) in afterbirth and their relations with various factors.

The aim of the study was to evaluate Hg and Se concentrations and Se:Hg molar ratios in the placenta, umbilical cord and fetal membranes, and to examine the relationship between the concentrations of the elements and selected factors. The study material consisted of the placenta, umbilical cord and fetal membranes obtained from 91 healthy women from northwestern and central Poland. In our study mean Hg and Se concentrations in afterbirth were ~ 0.01 mg/kg dry weight (dw) and ≤ 0.5 mg/kg dw, respectively. Correlation analysis showed negative relationships between placenta weight and Se concentration in the placenta and umbilical cord, as well as between placenta length and Se levels in the umbilical cord. We found negative correlations between THg concentration in the placenta and birth weight and between Se concentration in the placenta and umbilical cord and the morphological parameters of the placenta. Furthermore, we noted new types of interactions in specific parts of the afterbirth. In our study, Se:THg molar ratios ranged from 5 to 626; these values indicate protection against Hg toxicity.

Amoebas from the genus Acanthamoeba and their pathogenic properties

Amoebas from the genus Acanthamoeba are cosmopolitan organisms, which can exist as free-living organisms and as parasites within host tissue. Acanthamoeba infection present a serious risk to human health and are characterized by high mortality, especially in immunocompromised individuals. These protozoa are the etiological factors of granulomatous amoebic encephalitis (GAE) and Acanthamoeba keratitis (AK). They can also live in the lungs, adrenals glands, nose, throat, and bones of the host. Furthermore, the amoebas can be vectors of pathogenic bacteria. Acanthamoeba infection caused is a serious clinical problem mainly due to limited progress in diagnostics and treatment of this infection, which is associated with insufficient knowledge of pathogenesis, pathophysiology and the host immune response against Acanthamoeba antigens. This review study presents the biology of Acanthamoeba sp. as well as pathogenicity, diagnostics, and treatment of amoebas infections. It also presents data, including experimental results, concerning pathogenic properties and the host's immunology response against Acanthamoeba sp.

Effects of biological factors and health condition on mercury and selenium concentrations in the cartilage, meniscus and anterior cruciate ligament.

Due the long-term nature of joint tissue remodeling processes, knee structures including meniscus and anterior cruciate ligament (ACL) can be a model for studying the bioaccumulation of mercury (Hg) and selenium (Se). The accumulation and retention of Hg in human tissues can have a negative effect on the proper functioning of homeostasis-affecting organisms. A factor of chronic poisoning with Hg forms is probably the Se:Hg ratio in tissues. Se:Hg molar ratios below one may increase Hg toxicity potentials, while molar ratios that approach or exceed one effectively may protect against Hg toxicity. Therefore, the aim of the study was to determine total mercury (THg), Se, and Se:THg molar ratios in the cartilage, meniscus and ACL of patients with osteoarthritis (OA) from northwestern Poland. In all studied samples (n=95), we observed higher Se than THg concentration. Taking into consideration the biological factors, we found significantly higher THg levels in the cartilage of women, patients under 65 years of age, patients without hypertension and in the ACL of patients with spinal degenerative disease. We found higher Se levels in the meniscus in women than in men. In all studied parts of the knee joint, we found the Se:THg molar ratio higher than one, which suggests that the joint forming structures are not much exposed to THg. Moreover the results reported here may provide a basis for establishing reference values for the meniscus and ACL in patients with OA who had undergone knee replacement surgery.

Influence of Environmental Factors and Relationships between Vanadium, Chromium, and Calcium in Human Bone.

The aim of this study was to investigate the impact of environmental factors on the concentrations of vanadium (V), chromium (Cr), and calcium (Ca) and to examine the synergistic or antagonistic relationships between these metals, in cartilage (C), cortical bone (CB), and spongy bone (SB) samples obtained following hip joint surgery on patients with osteoarthritis in NW Poland. We found significantly higher concentrations of V and Cr in spongy bone in patients who consumed game meat and also those with prosthetic implants. Chromium levels were significantly lower in patients with kidney diseases. The greatest positive correlations were found between spongy bone V and (i) the amount of consumed beer and (ii) seafood diet. Correlation analysis also showed a significant correlation between Cr levels and seafood diet. To a certain extent these results indicate that the concentrations of V, Cr, and Ca in the human hip joint tissues are connected with occupational exposure, kidney diseases, diet containing game meat, sea food, beer, and the presence of implants. Furthermore, we noted new types of interactions in specific parts of the femoral head. Vanadium may contribute to the lower bone Ca levels, especially in the external parts (cartilage and cortical bone).

ROHHAD in a 9-year-old boy ­ clinical case.

ROHHAD syndrome (Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation) is characterized by rapid-onset obesity in young children, hypoventilation, and hypothalamic and autonomic dysfunction. The exact aetiology of the disease remains unknown, and the number of reported cases seems to be underestimated. We present the case of a nine-year-old male patient suspected of ROHHAD due to weight gain since early childhood, decreased height velocity, hypoventilation, hypodipsia, excessive perspiration, and pyrexial episodes. The presented symptoms, and laboratory and imaging findings met the criteria of ROHHAD syndrome. ROHHAD should be considered in differential diagnosis for obesity in children. Early identification of the disease prevents potential complications specific for the syndrome, in particular a life-threatening cardio-pulmonary arrest. Patients with ROHHAD require regular follow-up by a multidisciplinary team.

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.

Two variants (c.[301_302delAG];[301_302delAG] and c.[150delA];[150delA]) in the PROP1 gene are the most common genetic causes of recessively inherited combined pituitary hormones deficiency (CPHD). Our objective was to analyze in detail the origin of the two most prevalent variants. In the multicentric study were included 237 patients with CPHD and their 15 relatives carrying c.[301_302delAG];[301_302delAG] or c.[150delA];[150delA] or c.[301_302delAG];[ 150delA]. They originated from 21 different countries worldwide. We genotyped 21 single-nucleotide variant markers flanking the 9.6-Mb region around the PROP1 gene that are not in mutual linkage disequilibrium in the general populations--a finding of a common haplotype would be indicative of ancestral origin of the variant. Haplotypes were reconstructed by Phase and Haploview software, and the variant age was estimated using an allelic association method. We demonstrated the ancestral origin of both variants--c.[301_302delAG] was carried on 0.2 Mb-long haplotype in a majority of European patients arising ~101 generations ago (confidence interval 90.1-116.4). Patients from the Iberian Peninsula displayed a different haplotype, which was estimated to have emerged 23.3 (20.1-29.1) generations ago. Subsequently, the data indicated that both the haplotypes were transmitted to Latin American patients ~13.8 (12.2-17.0) and 16.4 (14.4-20.1) generations ago, respectively. The c.[150delA] variant that was carried on a haplotype spanning about 0.3 Mb was estimated to appear 43.7 (38.4-52.7) generations ago. We present strong evidence that the most frequent variants in the PROP1 gene are not a consequence of variant hot spots as previously assumed, but are founder variants.

Ectopic virilising adrenocortical tumour in the spinal region in an 8 year-old boy: a case report and review of the literature.

INTRODUCTION: The adrenocortical rest tumours are the very rare entity in the pediatric population. They are usually found along the gonadal descent paths (celiac axis, the broad ligamen, the adnexa of the testes or the spermatic cord). They have been also described to occur at rare ectopic sites like intracranial locations, placenta, kidney, pancreas and liver. CLINICAL CASE: Here we present a unusual case of an ectopic, virilising, primary adrenocortical tumour localized in the spinal region in a 8 years-old-boy. DISCUSSION: This is the first case of functional ectopic, adrenocortical tumour localized in the spinal region in a pediatric population. We discuss here the clinical presentation and the diagnostic challenges and provide the review of the literature.