RESUMO
Hypopituitarism (or pituitary deficiency) is a rare disease with an estimated prevalence of between 1/16,000 and 1/26,000 individuals, defined by insufficient production of one or several anterior pituitary hormones (growth hormone [GH], thyroid-stimulating hormone [TSH], adrenocorticotropic hormone [ACTH], luteinizing hormone [LH], follicle-stimulating hormone [FSH], prolactin), in association or not with diabetes insipidus (antidiuretic hormone [ADH] deficiency). While in adults hypopituitarism is mostly an acquired disease (tumors, irradiation), in children it is most often a congenital condition, due to abnormal pituitary development. Clinical symptoms vary considerably from isolated to combined deficiencies and between syndromic and non-syndromic forms. Early signs are non-specific but should not be overlooked. Diagnosis is based on a combination of clinical, laboratory (testing of all hormonal axes), imaging (brain magnetic resonance imaging [MRI] with thin slices centered on the hypothalamic-pituitary region), and genetic (next-generation sequencing of genes involved in pituitary development, array-based comparative genomic hybridization, and/or genomic analysis) findings. Early brain MRI is crucial in neonates or in cases of severe hormone deficiency for differential diagnosis and to inform syndrome workup. This article presents recommendations for hormone replacement therapy for each of the respective deficient axes. Lifelong follow-up with an endocrinologist is required, including in adulthood, with multidisciplinary management for patients with syndromic forms or comorbidities. Treatment objectives include alleviating symptoms, preventing comorbidities and acute complications, and optimal social and educational integration.
Assuntos
Hormônio do Crescimento Humano , Hipopituitarismo , Adulto , Criança , Recém-Nascido , Humanos , Hibridização Genômica Comparativa , Hipopituitarismo/diagnóstico , Hipopituitarismo/etiologia , Hipopituitarismo/terapia , Hipófise/patologia , Hormônio AdrenocorticotrópicoRESUMO
Pituitary deficiency, or hypopituitarism, is a rare chronic disease. It is defined by insufficient synthesis of one or more pituitary hormones (growth hormone, TSH, ACTH, LH-FSH, prolactin), whether or not associated with arginine vasopressin deficiency (formerly known as diabetes insipidus). In adult patients, it is usually acquired (notably during childhood), but can also be congenital, due to abnormal pituitary development. The present study focuses on congenital pituitary deficiency in adults, from diagnosis to follow-up, including special situations such as pregnancy or the elderly. The clinical presentation is highly variable, ranging from isolated deficit to multiple deficits, which may be part of a syndromic form or not. Diagnosis is based on a combination of clinical, biological (assessment of all hormonal axes), radiological (brain and hypothalamic-pituitary MRI) and genetic factors. Treatment consists in hormonal replacement therapy, adapted according to the period of life and the deficits, which may be progressive. Comorbidities, risk of complications and acute decompensation, and the impact on fertility and quality of life all require adaptative multidisciplinary care and long-term monitoring.
Assuntos
Hipopituitarismo , Humanos , Hipopituitarismo/diagnóstico , Hipopituitarismo/terapia , França/epidemiologia , Adulto , Feminino , Gravidez , Terapia de Reposição Hormonal/métodos , Masculino , Idoso , Hipófise/anormalidadesRESUMO
PURPOSE: AI brain tumour segmentation and brain extraction algorithms promise better diagnostic and follow-up of brain tumours in adults. The development of such tools for paediatric populations is restricted by limited training data but careful adaption of adult algorithms to paediatric population might be a solution. Here, we aim exploring the transferability of algorithms for brain (HD-BET) and tumour segmentation (HD-GLIOMA) in adults to paediatric imaging studies. METHOD: In a retrospective cohort, we compared automated segmentation with expert masks. We used the dice coefficient for evaluating the similarity and multivariate regressions for the influence of covariates. We explored the feasibility of automatic tumor classification based on diffusion data. RESULTS: In 42 patients (mean age 7 years, 9 below 2 years, 26 males), segmentation was excellent for brain extraction (mean dice 0.99, range 0.85-1), moderate for segmentation of contrast-enhancing tumours (mean dice 0.67, range 0-1), and weak for non-enhancing T2-signal abnormalities (mean dice 0.41). Precision was better for enhancing tumour parts (p < 0.001) and for malignant histology (p = 0.006 and p = 0.012) but independent from myelinisation as indicated by the age (p = 0.472). Automated tumour grading based on mean diffusivity (MD) values from automated masks was good (AUC = 0.86) but tended to be less accurate than MD values from expert masks (AUC = 1, p = 0.208). CONCLUSION: HD-BET provides a reliable extraction of the paediatric brain. HD-GLIOMA works moderately for contrast-enhancing tumours parts. Without optimization, brain tumor AI algorithms trained on adults and used on paediatric patients may yield acceptable results depending on the clinical scenario.
Assuntos
Neoplasias Encefálicas , Glioma , Adulto , Algoritmos , Inteligência Artificial , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/patologia , Criança , Glioma/diagnóstico por imagem , Glioma/patologia , Humanos , Processamento de Imagem Assistida por Computador/métodos , Imageamento por Ressonância Magnética/métodos , Masculino , Estudos RetrospectivosRESUMO
We present a 42-year-old woman with primary central nervous system lymphoma (PCNSL) and strong F-FDOPA PET uptake. F-FDOPA PET has high diagnostic accuracy in gliomas and brain metastases. The L-type amino acid transporter 1, targeted by F-FDOPA and C-MET PET, is a cell-type transporter usually upregulated in malignant tumors, including PCNSL. In this line, strong uptake was already shown with C-MET in PCNSL. We report the same findings with F-FDOPA. Consequently, PCNSL is a possible differential neoplastic diagnosis of F-FDOPA uptake among neoplastic lesions.
Assuntos
Neoplasias do Sistema Nervoso Central/diagnóstico por imagem , Neoplasias do Sistema Nervoso Central/metabolismo , Di-Hidroxifenilalanina/análogos & derivados , Linfoma não Hodgkin/diagnóstico por imagem , Linfoma não Hodgkin/metabolismo , Tomografia por Emissão de Pósitrons , Adulto , Transporte Biológico , Diagnóstico Diferencial , Di-Hidroxifenilalanina/metabolismo , Humanos , MasculinoRESUMO
For the vast majority of surgeons, no specific investigation is necessary before vagal nerve stimulation (VNS) implantation. We report our intraoperative unexpected finding of a massively enlarged vagus nerve in a patient with neurofibromatosis type 1 (NF1). The nerve hypertrophy prevented wrapping the coils of the helical electrode. The patient had no signs of vagus nerve dysfunction preoperatively (no hoarseness or dysphonia). This exceptional mishap is undoubtedly related to NF1-associated peripheral nerve sheath tumors. Even though it is not advisable to routinely perform any imaging prior to VNS, in such specific context, preoperative imaging work-up, especially cervical ultrasound, might be judicious to rule out any asymptomatic enlarged left vagus nerve.
Assuntos
Complicações Intraoperatórias/patologia , Neoplasias de Bainha Neural/cirurgia , Neurofibromatose 1/cirurgia , Estimulação do Nervo Vago/efeitos adversos , Nervo Vago/patologia , Eletrodos/efeitos adversos , Humanos , Hipertrofia , Complicações Intraoperatórias/etiologia , Estimulação do Nervo Vago/métodosRESUMO
PURPOSE: To evaluate the technical feasibility and efficacy of percutaneous cryoablation for the treatment of osteoid osteoma (OO) in adults. METHODS AND MATERIALS: 21 patients (12 male and nine female; mean age, 29.9 years) who underwent CT-guided percutaneous cryoablation for the treatment of OO were retrospectively evaluated. Procedures were carried out under local anaesthesia and conscious sedation in 13 patients, and under general anaesthesia in eight patients. Then, the ablation zone was evaluated with post-procedure magnetic resonance imaging at 6 weeks. Clinical outcome was assessed using a visual analogue scale (VAS) to evaluate severity of pain before procedure, as well as at primary (6 weeks) and secondary follow-up (6-40 months). RESULTS: All procedures were technically successful. Median VAS scores were: 8 (range, 5-10) before procedure and after procedure, respectively, 0 (range, 0-2; p < .0001) and 0 (range, 0-7; p < .0001) at primary and secondary follow-up. There were three minor complications (14.3%) and no major complication. A single patient reported symptom recurrence (4.8%) at secondary follow-up and successfully underwent a second cryoablation procedure. CONCLUSION: CT-guided percutaneous cryoablation is safe and effective in the treatment of OO in adults, and can be accomplished without general anaesthesia in selected cases. KEY POINTS: ⢠CT-guided percutaneous cryoablation of osteoid osteoma is safe and effective ⢠Cryoablation allows precise visual control of the aggregated iceball during procedure ⢠Percutaneous cryoablation can be accomplished without general anaesthesia in selected cases ⢠Another advantage of cryoablation is reduction of immediate postprocedural pain ⢠Post-procedure MRI is helpful in the evaluation of technical success.