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1.
Pediatr Blood Cancer ; 67(10): e28496, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32710685

RESUMO

OBJECTIVE: This study was undertaken to describe the spectrum of lung computed-tomography (CT) findings in children with pulmonary Langerhans cell histiocytosis (PLCH) and to evaluate for this population the CT-scan nodule and cyst scores proposed by adult pulmonologists at diagnosis and during follow-up. METHODS: Among 175 children with PLCH identified in the French national population-based Langerhans cell histiocytosis cohort, 60 were retrospectively selected by the availability of CT for a central review by three pediatric radiologists. These 60 patients are representative of childhood PLCH for almost all clinical aspects, except a lower percentage of risk organ involvement (38% vs 54%; P = 0.05). RESULTS: The 60 children's chest CT scans (n = 218) were reviewed. At diagnosis, 63% of them had nodules, 53% had cysts, and 29% had both. The percentages of patients with nodules or cysts increased from diagnosis to peak disease activity, respectively, from 63% to 73% and from 53% to 66%. The costophrenic angle was involved in 71%. Patients with pneumothorax (25%) had a higher median cyst score. Alveolar consolidation was observed in 34%. Patients with low CT-scan nodule and cyst scores had no long-term pulmonary sequelae. CONCLUSIONS: Well-known characteristics of adult PLCH (nodules and cysts) were observed in children. The chest CT scores proposed by adult pulmonologists could easily be applied to childhood PLCH. Lesions in children, unlike those in adults, are frequently located near the costophrenic angles. Alveolar consolidation might be considered an atypical feature of childhood PLCH.


Assuntos
Cistos/diagnóstico , Histiocitose de Células de Langerhans/diagnóstico , Pneumopatias/diagnóstico , Radiografia Torácica/métodos , Tomografia Computadorizada por Raios X/métodos , Criança , Pré-Escolar , Cistos/diagnóstico por imagem , Feminino , Seguimentos , Histiocitose de Células de Langerhans/diagnóstico por imagem , Humanos , Lactente , Pneumopatias/diagnóstico por imagem , Masculino , Prognóstico , Estudos Retrospectivos
2.
Am J Med Genet A ; 179(6): 915-926, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30868735

RESUMO

Mutations in the CHRNG gene cause autosomal recessive multiple pterygium syndrome (MPS). Herein we present a long-term follow-up of seven patients with CHRNG-related nonlethal MPS and we compare them with the 57 previously published patients. The objective is defining not only the clinical, histopathological, and molecular genetic characteristics, but also the type and degree of muscle involvement on whole-body magnetic resonance imaging (WBMRI). CHRNG mutations lead to a distinctive phenotype characterized by multiple congenital contractures, pterygium, and facial dysmorphism, with a stable clinical course over the years. Postnatal abnormalities at the neuromuscular junction were observed in the muscle biopsy of these patients. WBMRI showed distinctive features different from other arthrogryposis multiple congenita. A marked muscle bulk reduction is the predominant finding, mostly affecting the spinal erector muscles and gluteus maximus. Fatty infiltration was only observed in deep paravertebral muscles and distal lower limbs. Mutations in CHRNG are mainly located at the extracellular domain of the protein. Our study contributes to further define the phenotypic spectrum of CHRNG-related nonlethal MPS, including muscle imaging features, which may be useful in distinguishing it from other diffuse arthrogryposis entities.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Hipertermia Maligna/diagnóstico , Hipertermia Maligna/genética , Mutação , Fenótipo , Receptores Nicotínicos/genética , Anormalidades da Pele/diagnóstico , Anormalidades da Pele/genética , Anormalidades Múltiplas/terapia , Adolescente , Alelos , Substituição de Aminoácidos , Biópsia , Pré-Escolar , Ecocardiografia , Feminino , Estudos de Associação Genética/métodos , Testes Genéticos , Genótipo , Humanos , Imageamento por Ressonância Magnética , Masculino , Hipertermia Maligna/terapia , Modelos Moleculares , Músculo Esquelético/diagnóstico por imagem , Músculo Esquelético/patologia , Conformação Proteica , Receptores Nicotínicos/química , Anormalidades da Pele/terapia , Relação Estrutura-Atividade , Imagem Corporal Total
4.
Childs Nerv Syst ; 32(5): 873-6, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26732064

RESUMO

PURPOSE: Giant cell tumors (GCT) are benign primary bone tumors, locally aggressive, affecting in long bones in young adults during the third decade. It is rare to experience this lesion in skeletally immature patients. GCT are related to a risk of local recurrence and malignant transformation. METHOD: We report a rare case of a giant cell tumor of the thoracic spine in a skeletally immature girl presenting with a painful right scoliosis. RESULTS: MRI, CT scan, and bone scintigraphy were discordant and the percutaneous biopsy non-contributive. CONCLUSION: A marginal "en bloc" resection was performed and revealed the GCT. Based on a literature review, the diagnosis and the surgical management of this case are discussed.


Assuntos
Tumor de Células Gigantes do Osso/diagnóstico por imagem , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Vértebras Torácicas/diagnóstico por imagem , Adolescente , Feminino , Tumor de Células Gigantes do Osso/patologia , Tumor de Células Gigantes do Osso/cirurgia , Humanos , Imageamento por Ressonância Magnética , Neoplasias da Coluna Vertebral/patologia , Neoplasias da Coluna Vertebral/cirurgia , Vértebras Torácicas/patologia , Vértebras Torácicas/cirurgia , Tomografia Computadorizada por Raios X , Resultado do Tratamento
5.
Case Rep Pediatr ; 2018: 1709271, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30254782

RESUMO

Spinal cord compression in Wilms' tumor (WT) is an extremely rare event that can have a very poor prognosis if not taken care of rapidly. Most cases reported in the literature involve widely metastatic patient with bone or paraspinal metastases or occasionally intradural metastasis. Here, we present the case of a 3-year-old girl of WT confirmed by biopsy, with spinal cord compression due to the direct contiguous spread of a tumor through 2 vertebral foramina. Abdominal ultrasonography and magnetic resonance imaging performed for an abdominal mass revealed a large heterogeneous tumor near the upper pole of the left kidney. A nodular infiltration extended through the T11-L1 and L1-L2 neural foramina, forming an intraspinal mass that compressed the spinal cord. Major paresthesia subsequently occurred, requiring urgent treatment with corticosteroids and chemotherapy. The evolution was rapidly satisfying. After six courses of chemotherapy, a left nephrectomy was performed. Macroscopic examination identified a large tumor attached to the kidney without renal infiltration. Microscopical examination concluded to a nephroblastoma with regressive changes, of intermediate risk. Evolution at 6 months is satisfactory, with no neurological deficit. The histological aspect of the tumor and the clinical outcome suggest that she had an extrarenal WT that spread through the vertebral foramina and was secondarily attached to the kidney.

7.
J Trace Elem Med Biol ; 17(4): 249-53, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15139387

RESUMO

The putative role of aluminium intake in young Bangladeshi children (1.5 to 4 years of age) with calcium-deficient rickets was evaluated in a non randomised controlled eight month trial. The effects of aluminium or stainless-steel cooking pots on bone metabolism were assessed by measuring blood calcium, phosphorus, alkaline phosphatase, parathyroid hormone, 1,25 dihydroxy vitamin D, aminoterminal propeptide of type 1 collagen (PINP), cross-linked carboxyterminal telopeptide of type 1 collagen (ICTP), aluminium and albumin, and by analysis of wrist radiographs. In both groups, blood alkaline phosphatase, 1,25 dihydroxy vitamin D and aluminium decreased significantly, white serum albumin increased (p < 0.01). These results suggest that the nutrition may well be of major importance, whereas the role of aluminium appears to be insignificant.


Assuntos
Alumínio/metabolismo , Cálcio/metabolismo , Utensílios de Alimentação e Culinária , Alimentos , Raquitismo/terapia , Aço Inoxidável/química , Bangladesh , Osso e Ossos/metabolismo , Pré-Escolar , Culinária , Dieta , Feminino , Humanos , Lactente , Masculino , Fenômenos Fisiológicos da Nutrição , Raquitismo/metabolismo
8.
Prog Urol ; 13(1): 110-4, 2003 Feb.
Artigo em Francês | MEDLINE | ID: mdl-12703364

RESUMO

INTRODUCTION: Leydig cell hyperplasia (LCH) of the testis is rarely described in children. The authors report a case of incidental discovery of LCH on ultrasound examination. CASE REPORT: The authors report the case of a 9-year-old boy presenting with isolated and painless increased volume of the left testis, with no clinically palpable mass. Scrotal ultrasound revealed an echogenic mass, 12 mm in diameter, with a solid appearance and several hypoechoic areas, without calcification, situated in the lower pole of the testis. Tumour markers and gonadotropin axis hormonal assessment were normal. On surgical exploration, the testis had a macroscopically normal appearance; opening of the tunica albuginea revealed the lesion and enucleation was performed. Histological examination confirmed the presence of LCH, 5 mm in diameter. The postoperative course was uneventful. Physical examination and scrotal ultrasound have remained normal with a follow-up of two years. DISCUSSION: The authors recall the characteristics of LCH, which usually presents, in children, in the form of signs of precocious puberty or more rarely by gynaecomastia. The lesion is rarely palpable. Scrotal ultrasound reveals a homogeneous mass with several hypoechoic nodules. An endocrine assessment must always be performed (frequent elevation of LH). Surgery should be as conservative as possible (enucleation-resection). Histological diagnosis may be difficult.


Assuntos
Células Intersticiais do Testículo/patologia , Doenças Testiculares/diagnóstico por imagem , Criança , Humanos , Hiperplasia , Masculino , Doenças Testiculares/patologia , Ultrassonografia
9.
J Pediatr Urol ; 6(3): 320-3, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19896905

RESUMO

Mixed epithelial and stromal tumour of the kidney (MESTK) is a rare kidney neoplasm that occurs almost exclusively in perimenopausal women. Long-term oestrogen replacement appears to play a major role in its pathogenesis. Around 70 cases have been described in the international literature, none of which involve male children. Herein, we describe an atypical case of MESTK diagnosed in a 12-year-old prepubertal boy who presented with hematuria. Pathology and immunohistochemistry revealed a typical MESTK. The child was free of disease at 2-year follow up after a partial nephrectomy and tumour excision.


Assuntos
Neoplasias Renais/patologia , Neoplasias Complexas Mistas/patologia , Neoplasias Epiteliais e Glandulares/patologia , Criança , Diagnóstico Diferencial , Seguimentos , Humanos , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/cirurgia , Masculino , Neoplasias Complexas Mistas/diagnóstico por imagem , Neoplasias Complexas Mistas/cirurgia , Neoplasias Epiteliais e Glandulares/diagnóstico por imagem , Neoplasias Epiteliais e Glandulares/cirurgia , Nefrectomia , Ultrassonografia
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