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We report three siblings homozygous for CSF1R variant c.1969 + 115_1969 + 116del to expand the phenotype of "brain abnormalities, neurodegeneration, and dysosteosclerosis" (BANDDOS) and discuss its link with "adult leukoencephalopathy with axonal spheroids and pigmented glia" (ALSP), caused by heterozygous CSF1R variants. We evaluated medical, radiological, and laboratory findings and reviewed the literature. Patients presented with developmental delay, therapy-resistant epilepsy, dysmorphic features, and skeletal abnormalities. Secondary neurological decline occurred from 23 years in sibling one and from 20 years in sibling two. Brain imaging revealed multifocal white matter abnormalities and calcifications during initial disease in siblings two and three. Developmental brain anomalies, seen in all three, were most severe in sibling two. During neurological decline in siblings one and two, the leukoencephalopathy was progressive and had the MRI appearance of ALSP. Skeletal survey revealed osteosclerosis, most severe in sibling three. Blood markers, monocytes, dendritic cell subsets, and T-cell proliferation capacity were normal. Literature review revealed variable initial disease and secondary neurological decline. BANDDOS presents with variable dysmorphic features, skeletal dysplasia, developmental delay, and epilepsy with on neuro-imaging developmental brain anomalies, multifocal white matter abnormalities, and calcifications. Secondary neurological decline occurs with a progressive leukoencephalopathy, in line with early onset ALSP. Despite the role of CSF1R signaling in myeloid development, immune deficiency is absent. Phenotype varies within families; skeletal and neurological manifestations may be disparate.
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Background Multiple commercial artificial intelligence (AI) products exist for assessing radiographs; however, comparable performance data for these algorithms are limited. Purpose To perform an independent, stand-alone validation of commercially available AI products for bone age prediction based on hand radiographs and lung nodule detection on chest radiographs. Materials and Methods This retrospective study was carried out as part of Project AIR. Nine of 17 eligible AI products were validated on data from seven Dutch hospitals. For bone age prediction, the root mean square error (RMSE) and Pearson correlation coefficient were computed. The reference standard was set by three to five expert readers. For lung nodule detection, the area under the receiver operating characteristic curve (AUC) was computed. The reference standard was set by a chest radiologist based on CT. Randomized subsets of hand (n = 95) and chest (n = 140) radiographs were read by 14 and 17 human readers, respectively, with varying experience. Results Two bone age prediction algorithms were tested on hand radiographs (from January 2017 to January 2022) in 326 patients (mean age, 10 years ± 4 [SD]; 173 female patients) and correlated strongly with the reference standard (r = 0.99; P < .001 for both). No difference in RMSE was observed between algorithms (0.63 years [95% CI: 0.58, 0.69] and 0.57 years [95% CI: 0.52, 0.61]) and readers (0.68 years [95% CI: 0.64, 0.73]). Seven lung nodule detection algorithms were validated on chest radiographs (from January 2012 to May 2022) in 386 patients (mean age, 64 years ± 11; 223 male patients). Compared with readers (mean AUC, 0.81 [95% CI: 0.77, 0.85]), four algorithms performed better (AUC range, 0.86-0.93; P value range, <.001 to .04). Conclusions Compared with human readers, four AI algorithms for detecting lung nodules on chest radiographs showed improved performance, whereas the remaining algorithms tested showed no evidence of a difference in performance. © RSNA, 2024 Supplemental material is available for this article. See also the editorial by Omoumi and Richiardi in this issue.
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Inteligência Artificial , Software , Humanos , Feminino , Masculino , Criança , Pessoa de Meia-Idade , Estudos Retrospectivos , Algoritmos , PulmãoRESUMO
OBJECTIVES: Training healthcare physicians to perform intestinal ultrasound (IUS) during outpatient visits with equal accuracy as radiologists could improve clinical management of IBD patients. We aimed to assess whether a healthcare-physician can be trained to perform IUS, with equal accuracy compared with experienced radiologists in children with iBD, and to assess inter-observer agreement. METHODS: Consecutive children, 6 to 18âyears with IBD or suspicion of IBD, who underwent ileo-colonoscopy were enrolled. iUS was performed independently by a trained healthcare-physician and a radiologist in 1 visit. Training existed of an international training curriculum for IUS. Operators were blinded for each other's IUS, and for the ileocolonoscopy. Difference in accuracy of IUS by the healthcare-physician and radiologist was assessed using areas under the ROC curve (AUROC). Inter-observer variability was assessed in terminal ileum (TI), transverse colon (TC) and descending-colon (DC), for disease activity (ie, bowel wall thickness [BWT] >2âmm with hyperaemia or fat-proliferation, or BWT >3âmm). RESULTS: We included 73 patients (median age 15, interquartile range [IQR]:13-17, 37 [51%] female, 43 [58%] with Crohn disease). AUROC ranged between 0.71 and 0.81 for the healthcare-physician and between 0.67 and 0.79 for radiologist (Pâ >â0.05). Inter-observer agreement for disease activity per segment was moderate (K: 0.58 [SE: 0.09], 0.49 [SE: 0.12], 0.52 [SE: 0.11] respectively for TI, TC, and DC). CONCLUSIONS: A healthcare- physician can be trained to perform IUS in children with IBD with comparable diagnostic accuracy as experienced radiologists. The interobserver agreement is moderate. Our findings support the usage of IUS in clinical management of children with IBD.
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Doenças Inflamatórias Intestinais , Médicos , Adolescente , Criança , Atenção à Saúde , Feminino , Humanos , Doenças Inflamatórias Intestinais/diagnóstico por imagem , Intestinos/diagnóstico por imagem , Masculino , UltrassonografiaRESUMO
BACKGROUND: Thyroid storm is a well-known complication of surgical procedures in the lower neck, but is rare after a blunt neck trauma. The cases described previously have mainly focussed on adults with pre-existent thyroid disease. In this case report, we describe the disease course of a previously healthy adolescent who had asymptomatic hyperthyroxinemia after a blunt trauma of the jaw and neck. Case Presentation. A 17-year-old girl presented at our emergency department after she fell on her head while roller blading. On physical examination, among other injuries, she had a swelling in the lower neck, which appeared to involve the thyroid gland. Subsequent laboratory analysis was indicative of primary hyperthyroxinemia, with a free T4 of 59 pmol/L (reference range: 12-22) and a TSH of 0.46 mU/L (reference range: 0.5-4.3), but the patient had no symptoms fitting with this. Four weeks after the initial presentation, the patient reported only complaints regarding tenderness in the jaw and neck region. She was no longer hyperthyroidic on biochemical evaluation (with a free T4 level of 15.6 pmol/L and a TSH level of 0.33 mU/L), and antibodies against thyroid peroxidase or TSH receptor were not present. CONCLUSIONS: This case might indicate that hyperthyroxinemia following a neck trauma may go unnoticed if hyperthyroid symptoms are mild or absent and thyroid function tests are not performed.
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AIM: To determine acceptance of pregnant women to undergo fetal magnetic resonance imaging (MRI) examination in research and clinical setting. METHODS: A prospective study included a research group [part of a study comparing brain ultrasound (US) to MRI in fetuses at risk for acquired brain damage] and a clinical group [fetuses with suspected (brain) anomalies after structural US examination] from 2011 to 2014. All women were advised to use sedatives. MRI declinations, use of sedation, MRI duration and imaging quality were compared between both groups. RESULTS: Study participation was accepted in 57/104 (55%) research cases. Fetal MRI was performed in 34/104 (33%) research and 43/44 (98%) clinical cases. Reasons to decline study participation were MRI related in 41%, and participation was too burdensome in 46%. Acceptance was highest for indication infection and lowest in alloimmune thrombocytopenia and monochorionic twin pregnancy. Sedatives were used in 14/34 research and 43/43 clinical cases. Scan duration and quality were comparable (21 and 20 min in research and clinical cases, respectively, moderate/good quality in both groups). CONCLUSIONS: Pregnant women consider MRI more burdensome than professionals realize. Two-third of women at risk for fetal brain damage decline MRI examination. Future studies should evaluate which information about fetal MRI is supportive.
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Encefalopatias , Encéfalo/diagnóstico por imagem , Doenças Fetais/diagnóstico , Imageamento por Ressonância Magnética/métodos , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Cuidado Pré-Natal , Adulto , Atitude Frente a Saúde , Encéfalo/anormalidades , Encefalopatias/congênito , Encefalopatias/diagnóstico , Feminino , Humanos , Hipnóticos e Sedativos/uso terapêutico , Países Baixos , Gravidez , Cuidado Pré-Natal/métodos , Cuidado Pré-Natal/psicologia , Cuidado Pré-Natal/estatística & dados numéricos , Estudos Prospectivos , Medição de Risco/métodos , Ultrassonografia Pré-Natal/métodosRESUMO
Osteonecrosis is a well-recognized complication in patients treated with corticosteroids. The incidence of osteonecrosis in children treated for Hodgkin lymphoma is unknown because prospective whole-body magnetic resonance imaging (MRI) studies are lacking in this patient population. Paediatric patients with newly diagnosed Hodgkin lymphoma who were treated according to a uniform paediatric Hodgkin protocol were eligible for inclusion in this prospective study. Whole-body MRI was performed in all 24 included patients (mean age 15·1 years, 12 girls) both before treatment and after 2 cycles of chemotherapy, and in 16 patients after completion of chemotherapy. Osteonecrosis was identified in 10 patients (41·7%, 95% confidence interval: 22·0-61·4%), with a total of 56 osteonecrotic sites. Osteonecrosis was detected in 8 patients after 2 cycles of OEPA (vincristine, etoposide, prednisone, doxorubicin), and in 2 additional patients after completion of chemotherapy. Epiphyseal involvement of long bones was seen in 4 of 10 children. None of the patients with osteonecrosis had any signs of bone collapse at the times of scanning. Whole-body MRI demonstrates osteonecrosis to be a common finding occurring during therapy response assessment of paediatric Hodgkin lymphoma. Detection of early epiphyseal osteonecrosis could allow for treatment before bone collapse and joint damage may occur.
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Doença de Hodgkin/complicações , Imageamento por Ressonância Magnética/métodos , Osteonecrose/diagnóstico por imagem , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Criança , Doxorrubicina/uso terapêutico , Epífises/diagnóstico por imagem , Epífises/patologia , Etoposídeo/uso terapêutico , Feminino , Doença de Hodgkin/tratamento farmacológico , Doença de Hodgkin/patologia , Humanos , Incidência , Masculino , Osteonecrose/etiologia , Prednisona/uso terapêutico , Estudos Prospectivos , Vincristina/uso terapêuticoRESUMO
The endoscopic STING procedure using Deflux is a common and minimal invasive treatment for vesicoureteral reflux. Herein we present the case of an 11-year-old girl with loin pain and de novo hydronephrosis and megaureter on the left. Ultrasound and plain abdominal X-ray demonstrated a calcification at the ureterovesical junction. She had been treated with Deflux injections 5 years before. The clinical quiz addresses the differential diagnosis, workup, and pathogenesis of calcifications at the ureterovesical junction following endoscopic reflux therapy.
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OBJECTIVES: To assess frequency of gallbladder polyposis and carcinoma in metachromatic leukodystrophy (MLD). METHODS: We evaluated 34 patients with MLD (average age 16.7 years, age range 2-39 years) screened for gallbladder abnormalities by ultrasound. In the case of cholecystectomy, findings at pathology were reviewed. RESULTS: Only 8 of 34 patients (23%) had a normal gallbladder at ultrasound. Gallbladder polyps were visible in 8 patients (23%). Cholecystectomy was performed in 11 patients (32%). In these, pathology revealed various abnormalities, including hyperplastic polyps, intestinal metaplasia, prominent Rokitansky-Aschoff sinuses, and sulfatide storage. CONCLUSIONS: Our results demonstrate that gallbladder involvement is the rule rather than the exception in MLD. The high prevalence of hyperplastic polyps, a known precancerous condition, and one death from gallbladder carcinoma at a young age suggest that MLD predisposes to neoplastic gallbladder abnormalities. As novel therapies for this patient group are emerging leading to increased life expectancy, we recommend screening for gallbladder abnormalities by ultrasound in order to prevent early death.
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Doenças da Vesícula Biliar/complicações , Neoplasias da Vesícula Biliar/complicações , Vesícula Biliar/diagnóstico por imagem , Leucodistrofia Metacromática/complicações , Pólipos/complicações , Lesões Pré-Cancerosas/complicações , Adolescente , Adulto , Criança , Pré-Escolar , Colecistectomia , Feminino , Vesícula Biliar/patologia , Vesícula Biliar/cirurgia , Doenças da Vesícula Biliar/diagnóstico por imagem , Neoplasias da Vesícula Biliar/diagnóstico por imagem , Humanos , Hiperplasia , Leucodistrofia Metacromática/diagnóstico por imagem , Leucodistrofia Metacromática/genética , Leucodistrofia Metacromática/cirurgia , Masculino , Pólipos/diagnóstico por imagem , Pólipos/patologia , Pólipos/cirurgia , Lesões Pré-Cancerosas/diagnóstico por imagem , Ultrassonografia , Adulto JovemRESUMO
UNLABELLED: Renal involvement is regularly encountered in neonates with invasive candidiasis, especially when risk factors like congenital malformations of the renal tract or poor bladder emptying and preterm birth are present. However, complete obstruction of the renal collecting system by fungal balls is rare. Although conservative management has been advocated for partial obstruction, complete obstruction is considered an indication for surgical drainage. We report a patient with anuria and Candida albicans bezoars in a solitary kidney, suggesting post-renal acute kidney injury. The patient was treated with systemic fluconazole and peritoneal dialysis for 4 days. The fungus balls disappeared and renal function recovered. CONCLUSION: Systemic antifungal therapy leads to clearance of obstructing fungus balls, and nephrostomy should be reserved for anuria due to bilateral complete obstruction with severe hydronephrosis. In these cases, temporary dialysis is a potential alternative.
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Antifúngicos/uso terapêutico , Anuria/etiologia , Bezoares/complicações , Candida albicans/isolamento & purificação , Candidíase/complicações , Rim/anormalidades , Diálise Renal/métodos , Anuria/diagnóstico por imagem , Anuria/terapia , Bezoares/diagnóstico por imagem , Bezoares/microbiologia , Candidíase/diagnóstico por imagem , Candidíase/terapia , Diagnóstico Diferencial , Humanos , Recém-Nascido , Rim/diagnóstico por imagem , Rim/microbiologia , Masculino , UltrassonografiaRESUMO
In recent years, several new white matter diseases have been identified based on magnetic resonance imaging and clinical findings. For most newly defined disorders the genetic basis has been identified. However, there is still a large group of patients without a specific diagnosis. Hypomyelinating leukodystrophies are the largest group among them. In some disorders characterized by hypomyelination only central nervous system involvement is observed, but in some disorders involvement of other organs is observed as well, such as eyes or teeth. Pelizaeus-Merzbacher-like disease (PMLD) is an autosomal recessive hypomyelinating disorder of the central nervous system characterized by nystagmus, ataxia, and progressive spasticity. The disease is caused by mutations in GJC2, the gene that encodes the gap junction protein connexin 47. Here we describe hypomyelination and Müllerian agenesis syndrome in a girl who is homozygous for a novel mutation in the GJC2 gene. It is an open question whether this is an association by chance or a feature of PMLD not previously noted.
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Encéfalo/patologia , Conexinas/genética , Doenças Desmielinizantes/genética , Ductos Paramesonéfricos/anormalidades , Mutação , Doença de Pelizaeus-Merzbacher/genética , Pelve/anormalidades , Adolescente , Doenças Desmielinizantes/patologia , Feminino , Humanos , Doença de Pelizaeus-Merzbacher/patologia , SíndromeRESUMO
Deficiency of cartilage-associated protein (CRTAP) or prolyl 3-hydroxylase 1(P3H1) has been reported in autosomal-recessive lethal or severe osteogenesis imperfecta (OI). CRTAP, P3H1, and cyclophilin B (CyPB) form an intracellular collagen-modifying complex that 3-hydroxylates proline at position 986 (P986) in the alpha1 chains of collagen type I. This 3-prolyl hydroxylation is decreased in patients with CRTAP and P3H1 deficiency. It was suspected that mutations in the PPIB gene encoding CyPB would also cause OI with decreased collagen 3-prolyl hydroxylation. To our knowledge we present the first two families with recessive OI caused by PPIB gene mutations. The clinical phenotype is compatible with OI Sillence type II-B/III as seen with COL1A1/2, CRTAP, and LEPRE1 mutations. The percentage of 3-hydroxylated P986 residues in patients with PPIB mutations is decreased in comparison to normal, but it is higher than in patients with CRTAP and LEPRE1 mutations. This result and the fact that CyPB is demonstrable independent of CRTAP and P3H1, along with reported decreased 3-prolyl hydroxylation due to deficiency of CRTAP lacking the catalytic hydroxylation domain and the known function of CyPB as a cis-trans isomerase, suggest that recessive OI is caused by a dysfunctional P3H1/CRTAP/CyPB complex rather than by the lack of 3-prolyl hydroxylation of a single proline residue in the alpha1 chains of collagen type I.
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Ciclofilinas/genética , Mutação , Osteogênese Imperfeita/genética , Catálise , Colágeno/química , Ciclofilinas/metabolismo , Ciclofilinas/fisiologia , Análise Mutacional de DNA , Saúde da Família , Feminino , Fibroblastos/metabolismo , Humanos , Gravidez , Pró-Colágeno-Prolina Dioxigenase/metabolismo , Prolina/química , Estrutura Terciária de ProteínaRESUMO
The authors present the case of a 4-year-old boy in whom a medulloblastoma in the left cerebellar hemisphere was successfully resected with no signs of residual tumor on the postoperative magnetic resonance (MR) images. A second MR imaging study performed 1 month after surgery demonstrated an extensive, contrast-enhancing lesion in the left cerebellar hemisphere, which simulated massive recurrent tumor, and repeated surgery was considered. A third postoperative MR imaging study, performed for evaluation of the craniospinal axis 10 days after the second postoperative study, still showed some contrast enhancement in the left cerebellar hemisphere, but the lesion had almost disappeared. Postoperative hemicerebellar inflammation seemed to be the most likely explanation. This case illustrates that early postoperative inflammation can mimic recurrent tumor on MR images obtained after resection of a medulloblastoma and caution should be taken in interpreting such images. Clinical history, neurological examination, laboratory findings, and repeated MR imaging studies can be helpful in evaluating the patient accurately.
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Neoplasias Encefálicas/cirurgia , Meduloblastoma/cirurgia , Recidiva Local de Neoplasia/diagnóstico , Pré-Escolar , Diagnóstico Diferencial , Humanos , Inflamação/diagnóstico , Imageamento por Ressonância Magnética , Masculino , Complicações Pós-OperatóriasRESUMO
An infant with pneumococcal meningitis developed signs of raised intracranial pressure during the progression of the disease, including loss of consciousness, hypertension, bradycardia, and respiratory depression. However, both the emergency computed tomography scan findings and intracranial pressure measured by lumbar puncture were normal. Diffusion-weighted magnetic resonance imaging identified multiple lesions with restricted diffusion suggestive of ischemia in the brainstem, explaining the signs observed in the patient. These lesions could not be identified on T(2)-weighted images at that time.