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- Chronic Nonbacterial Osteomyelitis in Neuroradiology - Behavior and Evolution of Vertebral and Mandibular Lesions on ImagingPublication . Silva, José Sá; Bettencourt, Sofia; Madureira, Inês; Conde, Marta; Conceição, CarlaBackground: Chronic nonbacterial osteomyelitis (CNO) is a rare non-infectious inflammatory musculoskeletal disease where imaging plays a key diagnostic role. Vertebral and mandibular lesions are frequent manifestations, meaning their awareness is crucial for the neuroradiologist to avoid delays in diagnosis and treatment. Objective: Characterize vertebral and mandibular CNO lesions on imaging to assist practicing neuroradiologists in better identifying this disease. Materials and methods: Retrospective review of all CNO patients of our pediatric center, including only patients with vertebral or mandibular lesions. All imaging exams were analyzed to record lesion characteristics. Results: We included 13 patients (six male). The mean age of onset was 12.3 years. Ten patients had only vertebral lesions, two had only mandibular lesions, and one had both. For patients with vertebral lesions, the median number of levels affected was three, 81.8% had multiple levels affected, 90.0% had dorsal spine lesions, 72.7% had platyspondyly, and 81.8% had inflammatory changes. All vertebral lesions had at least partial resolution of inflammatory findings, the mean time of lesion activity was 2.5 years, and recurrence occurred in 27.3%. Three patients had sacral lesions, all with sacroiliitis. In patients with mandibular lesions, all had unilateral lesions involving the mandibular ramus, all had hyperostosis, periosteal reaction, bone edema, and soft tissue inflammation, all had partial resolution on follow-up, and one had recurrence. Conclusion: CNO vertebral lesions are not rare, are often multiple, predominantly affect dorsal levels, and most result in vertebral height loss. Resolution of vertebral inflammatory lesions is frequent, but so is recurrence. Sacral lesions may be present and result in sacroiliitis. The mandible may be a site of unifocal disease, typically affecting the ramus, with prominent bony changes and soft tissue inflammation.
- Multiresistant Kawasaki Disease in a Young Infant with Giant Aneurysms Growing Fast.Publication . Amorim-Figueiredo, Rosa; Pereira Lemos, Ana; Rito, Tiago; Conde, Marta; Brito, Maria João; Pinto, FátimaBackground: Kawasaki disease (KD) is a type of vasculitis in which giant coronary artery aneurysms (CAAs) can occur. There are no specific guidelines for managing giant CAAs that develop quickly and are at risk of rupture. Regarding cardiovascular drugs, only beta-blockers are formally recommended in the acute phase of KD. Case presentation: A 6-month-old male patient with multiresistant Kawasaki disease and giant CAAs that continued to enlarge after controlling systemic inflammation was examined. The patient required three doses of intravenous immunoglobulin, methylprednisolone pulses, and anakinra and infliximab to normalize systemic inflammation. Due to the rapid increment of aneurysms' dimensions and the risk of rupture, we introduced anticoagulant therapy and propranolol plus captopril, and titration doses were introduced according to a tolerated decrease in heart rate and arterial pressure. CAAs increment stabilized and slowly reduced their dimensions. Conclusions: The authors describe an atypical case of multiresistant KD with giant rapidly increasing CAAs even after controlling systemic inflammation. The introduction of a beta-blocker and an angiotensin-converting enzyme (ACE) inhibitor was demonstrated to be useful for stabilizing giant CAAs growth and reducing the potential risk of rupture.
- When a Child Refuses to Play: A Rare Myopathy.Publication . Condessa, Luzia; Dias, Susana; Moura Antunes, Sofia; Martins, Mafalda; Madureira, InêsIdiopathic inflammatory myopathies (IIM) are a rare group of systemic diseases characterized by progressive proximal muscle weakness and skeletal muscle inflammation. We describe a clinical report of a seven-year-old boy presenting with myalgia and proximal muscle weakness beginning three weeks earlier, with laboratory, MRI, and muscle biopsy findings consistent with IIM. The patient was treated with corticosteroids, methotrexate, immunoglobulin, and intensive motor rehabilitation, with favorable evolution. Diagnosis of Juvenile Polymyositis was confirmed. Three years later, we assisted a relapse of muscle weakness and muscle cytolysis with the onset of bilateral eyelid skin microulcers compatible with dermatomyositis. This report intends to highlight the importance of early diagnosis and treatment in IIM due to the significant burden associated with this group of diseases. In this case, the late onset of the skin lesion contributed to the challenge in this diagnosis.
- When a Child Refuses to Play: A Rare Myopathy.Publication . Condessa, Luzia; Dias, Susana; Moura Antunes, Sofia; Martins, Mafalda; Madureira, InêsIdiopathic inflammatory myopathies (IIM) are a rare group of systemic diseases characterized by progressive proximal muscle weakness and skeletal muscle inflammation. We describe a clinical report of a seven-year-old boy presenting with myalgia and proximal muscle weakness beginning three weeks earlier, with laboratory, MRI, and muscle biopsy findings consistent with IIM. The patient was treated with corticosteroids, methotrexate, immunoglobulin, and intensive motor rehabilitation, with favorable evolution. Diagnosis of Juvenile Polymyositis was confirmed. Three years later, we assisted a relapse of muscle weakness and muscle cytolysis with the onset of bilateral eyelid skin microulcers compatible with dermatomyositis. This report intends to highlight the importance of early diagnosis and treatment in IIM due to the significant burden associated with this group of diseases. In this case, the late onset of the skin lesion contributed to the challenge in this diagnosis.
- Hemophagocytic Lymphohistiocytosis in an Adolescent with NLRP12‐Related Autoinflammatory Disorder - A Case ReportPublication . Hormigo, I; Valente Pinto, M; Cordeiro, AI; Henriques, C; Martins, C; Parente Freixo, J; Conde, M; Gouveia, C; Farela Neves, J
- Case Report: Varicella Associated Neuropsychiatric Syndrome (VANS) in Two Pediatric CasesPublication . Dahiya, D; Matos, CM; Lim, M; Madureira, I; Duarte, S; Byrne, S; Rossor, TBackground: Viral or bacterial infections can trigger auto-immune inflammatory reactions and conditions in children. Self-reactivity arises due to similarities in molecular structures between pathogenic microorganisms and regular body structures with consequent immune-cross reactions. Reactivation of latent Varicella Zoster Virus (VZV) infections can cause neurological sequalae, including cerebellitis, post-herpetic neuralgias, meningo/encephalitis, vasculopathy and myelopathy. We propose a syndrome caused by auto-immune reactivity triggered by molecular mimicry between VZV and the brain, culminating in a post-infectious psychiatric syndrome with childhood VZV infections. Case presentation: Two individuals, a 6-year-old male and 10-year-old female developed a neuro-psychiatric syndrome 3-6 weeks following a confirmed VZV infection with intrathecal oligoclonal bands. The 6-year-old male presented with a myasthenic syndrome, behavior deterioration and regression in school, he was poorly responsive to IVIG and risperidone, however had a pronounced response to steroid treatment. The 10-year-old female presented with marked insomnia, agitation, and behavioral regression as well as mild bradykinesia. A trial of neuroleptics and sedatives resulted in a mild unsustained reduction in psychomotor agitation and IVIG was also unsuccessful, however the patient was very responsive to steroid therapy. Conclusion: Psychiatric syndromes with evidence of intrathecal inflammation temporally related to VZV infections that are responsive to immune modulation have not been described before. Here we report two cases demonstrating neuro-psychiatric symptoms following VZV infection, with evidence of persistent CNS inflammation following the resolution of infection, and response to immune modulation.
- COVID-19 Infection Triggered Juvenile Systemic Lupus Erythematosus-Like DiseasePublication . Ac de Belo, I; Gouveia, C; Silva, TM; Conde, M
- A Novel Variant of DeSanto-Shinawi Syndrome with Joint ManifestationsPublication . Branco, J; Amorim, M; Conde, Mvariable degrees of developmental delay and intellectual disability that were recently delineated as DeSanto- Shinawi syndrome (OMIM 616708). We describe a patient with DeSanto-Shinawi syndrome caused by a novel frameshift variant in WAC gene (NM_016628.4(WAC):c.1689del (p.Phe563Leufs*6)). As noted in cases previously reported, our patient phenotype included facial dysmorphism, intellectual disability, behavioral problems, feeding difficulties, hirsutism, constipation and astigmatism. She also had limited range of motion of joints since birth and Juvenile Idiopathic Arthritis diagnosed at eleven years old. Although in the last years some additional features were reported in DeSanto-Shinawi syndrome, joint manifestations have not been previously described. As limited range of motion of joints was reported since birth with no correlation with arthritis onset, it could be a new clinical feature. Polyarthritis in this patient can be only a coincidence, since there is a first degree relative with psoriasis, or might be related to WAC mutation. Indeed, WAC encodes a protein that plays a vital role in autophagy. It has already been demonstrated that WAC haploinsufficiency leads to increased autophagy and, according to different authors, increased autophagy may display a pathogenic role in several autoimmune disorders such as Rheumatoid Arthritis and Juvenile Idiopathic Arthritis. Thus, WAC haploinsufficiency may have contributed to autoimmune disorder in this patient.
- Association of Body Mass Index with Juvenile Idiopathic Arthritis Disease Activity: a Portuguese and Brazilian Collaborative AnalysisPublication . Neto, A; Mourão, AF; Oliveira-Ramos, F; Campanilho-Marques, R; Estanqueiro, P; Salgado, M; Guedes, M; Piotto, D; Emi Aikawa, N; Melo Gomes, J; Cabral, M; Conde, M; Figueira, R; Santos, MJ; Fonseca, JE; Terreri, MT; Canhão, HObjective: To investigate the relationship between body mass index (BMI) and disease activity in patients with Juvenile Idiopathic Arthritis (JIA). Methods: Patients with JIA, aged ≤18 years, registered at the Rheumatic Diseases Portuguese Register (Reuma.pt) in Portugal and Brazil were included. Ageand sex-specific BMI percentiles were calculated based on WHO growth standard charts and categorized into underweight (P<3), normal weight (3≤P≤85), overweight (8597). Disease activity was assessed by Juvenile Arthritis Disease Activity Score (JADAS-27). Uni- and multivariable analyses were performed. Results: A total of 275 patients were included. The prevalence of underweight, normal weight, overweight and obesity was 6.9%, 67.3%, 15.3% and 10.5%, respectively. Underweight patients had significantly higher number of active joints (p<0.001), patient’s/parent’s global assessment of disease activity (PGA) (p=0.020), physician’s global assessment of disease activity (PhGA) (p<0.001), erythrocyte sedimentation rate (ESR) (p=0.032) and overall higher JADAS-27 (p<0.001), compared to patients with normal weight, overweight and obesity. In the multivariable regression, normal weight (B=-9.43, p<0.01), overweight (B=-9.30, p=0.01) and obesity (B=-9.12, p=0.01) were significantly associated with lower disease activity compared to underweight, when adjusted for age, gender, country, ethnicity, JIA category and therapies used. The diagnosis of RF- (B=3.65, p=0.006) or RF+ polyarticular JIA (B=5.29, p=0.024), the absence of DMARD therapy (B=5.54, p<0.001) and the use of oral GC (B=4.98, p=0.002) were also associated with higher JADAS-27. Conclusion: We found an independent association between underweight and higher disease activity in patients with JIA. Further studies are needed to understand the underlying mechanisms of this association.