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1.
Eur J Med Genet ; 66(8): 104788, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37295610

RESUMO

Stüve-Wiedemann Syndrome (STWS) is an autosomal recessive condition caused by variants in the LIFR gene, presenting with respiratory failure, hyperthermia and skeletal dysplasia in the neonatal period. Historically identified as a lethal condition, more children are now managed holistically from early in life with multidisciplinary team involvement with improved outcomes. This stems from early diagnosis, supported by molecular testing in the pre and postnatal periods. This report includes five such cases with survival in childhood to 10 years old in the UK affected by skeletal abnormalities, hyperthermia, respiratory distress and their diagnostic odyssey. All cases have a molecular diagnosis; two patients (family 1) were found to be homozygous for a novel pathogenic LIFR variant NM_002310.5:c.704G > A, p.(Trp235Ter). One patient (family 2) is compound heterozygous with the previously reported LIFR variant NM_002310.5:c.756dup p.(Lys253Ter), and a second novel variant NM_002310.5:c.397+5G > A. Two patients (family 3) are homozygous for one of the same LIFR variants NM_002310.5:c.756dup p.(Lys253Ter) as in family 2. This report discusses genotypic and phenotypic data for five patients with STWS, as well as the need for multi-disciplinary, proactive management and genetic counselling.


Assuntos
Osteocondrodisplasias , Recém-Nascido , Criança , Humanos , Lactente , Subunidade alfa de Receptor de Fator Inibidor de Leucemia/genética , Mutação , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Reino Unido
3.
Rheumatology (Oxford) ; 59(10): 2671-2680, 2020 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-32648576

RESUMO

Chronic recurrent multifocal osteomyelitis (CRMO) is an auto-inflammatory disorder affecting the skeleton of children and adolescents. Whole-body MRI (WBMRI) is key in the diagnosis and follow-up of CRMO. Imaging protocols should include sagittal short Tau inversion recovery of the spine, imaging of the hands and feet, and T1 images for distinguishing normal bone marrow. CRMO lesions can be metaphyseal, epiphyseal and physeal-potentially causing growth disturbance and deformity. Spinal lesions are common, important and can cause vertebral collapse. Lesion patterns include multifocal tibial and pauci-focal patterns that follow a predictable presentation and course of disease. Common pitfalls of WBMRI include haematopoietic marrow signal, metaphyseal signal early on in bisphosphonate therapy and normal high T2 signal in the hands and feet. Pictorial reporting assists in recording lesions and follow-up over time. The purpose of this paper is to review the different WBMRI protocols, imaging findings, lesion patterns and common pitfalls in children with CRMO.


Assuntos
Imageamento por Ressonância Magnética/métodos , Osteomielite/diagnóstico por imagem , Osteomielite/patologia , Imagem Corporal Total/métodos , Adolescente , Conservadores da Densidade Óssea/uso terapêutico , Medula Óssea/diagnóstico por imagem , Criança , Difosfonatos/uso terapêutico , Pé/diagnóstico por imagem , Pé/patologia , Mãos/diagnóstico por imagem , Mãos/patologia , Humanos , Osteomielite/tratamento farmacológico , Recidiva , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/patologia , Tíbia/diagnóstico por imagem , Tíbia/patologia
4.
Mol Pharm ; 16(9): 3896-3903, 2019 09 03.
Artigo em Inglês | MEDLINE | ID: mdl-31373502

RESUMO

The volume and localization of fluid in the paediatric gastrointestinal tract is crucial to the design of in vitro and in silico models that predict the absorption of oral drugs administered to children. Previous studies have used magnetic resonance imaging (MRI) to quantify fluid volumes and localization in the intestines of adults; this study is the first to undertake similar analysis of pediatric participants. This study quantified the amount and distribution of fluid in fasted and fluid-fed children using MRI data captured during the routine clinical assessment. Data from 32 fasted children (aged 0-16 years) and 23 fluid-fed children (aged 8-16 years) were evaluated. The gastric volume ranged from 0 to 9 mL in the fasted and 19-423 mL in the fluid-fed state. The small intestinal volume was recorded to be 0-51 mL in the fasted and 6-91 mL in the fluid-fed state with an average number of 7.7 and 22.4 fluid pockets, respectively. The data showed significant differences in gastric volumes and the number of fluid pockets in the small intestine for age-matched fasted and fluid-fed children (p < 0.05). Both the number and the volume of pockets reported in children are much lower than those previously reported in adults. This study is the first to report intestinal volumes and localization in children and provides new information to achieve the design of biorelevant in vitro models and real values to update in silico models. The data available from both fluid-fed and fasted children show the extremes of fluid volumes that are present in the gastro-intestinal tract which is useful to understand the variability associated with drug absorption in children.


Assuntos
Mucosa Gástrica/metabolismo , Conteúdo Gastrointestinal/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Polietilenoglicóis/farmacocinética , Administração Oral , Adolescente , Criança , Pré-Escolar , Jejum , Feminino , Absorção Gastrointestinal , Humanos , Lactente , Recém-Nascido , Masculino , Polietilenoglicóis/administração & dosagem , Estudos Retrospectivos
5.
J Pediatr Gastroenterol Nutr ; 68(4): e54-e57, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30628989

RESUMO

McCune-Albright syndrome (MAS) results from a GNAS gene mutation. It is associated with café au lait macules, fibrous dysplasia, and several endocrinopathies to include gonadotropin-independent precocious puberty, growth hormone excess, Cushing syndrome, thyroid disease, and renal phosphate wasting. It is recognized to be a rare cause of neonatal cholestasis. We describe the hepatic outcome of 3 children with MAS referred to a single national liver unit. All presented with high gamma-glutamyl transpeptidase cholestasis and hepatitis. Cholestasis resolved by 1 year; but hepatic inflammation persisted, and 2 children developed progressive atypical focal nodular hyperplasia and 1 developed hepatoblastoma. This the first reported malignant hepatic lesion associated with MAS. MAS should be considered part of the differential diagnosis of neonatal cholestasis and affected children should be closely monitored for the development of hepatic lesions with regular liver ultrasound and alpha fetoprotein level.


Assuntos
Colestase/complicações , Displasia Fibrosa Poliostótica/diagnóstico , Hepatite/complicações , Fígado/patologia , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Cisplatino/uso terapêutico , Dactinomicina/uso terapêutico , Feminino , Displasia Fibrosa Poliostótica/sangue , Displasia Fibrosa Poliostótica/diagnóstico por imagem , Displasia Fibrosa Poliostótica/tratamento farmacológico , Humanos , Recém-Nascido , Fígado/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Vincristina/uso terapêutico
7.
Indian J Pediatr ; 83(11): 1291-1302, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27783314

RESUMO

Space occupying liver lesions usually present with abdominal pain or abnormal physical findings, such as a palpable abdominal mass or distention. Liver lesions identified in children include benign and malignant neoplasms, inflammatory masses, cysts and metastatic lesions. Two-thirds of liver lesions in children are malignant. Hepatoblastoma accounts for two-thirds of malignant liver tumors in children. Benign lesions of the liver in children include vascular lesions, hamartomas, adenomas, and focal nodular hyperplasia. Although benign and malignant liver masses share some clinical manifestations, however treatment and prognosis differ. Evaluation involves physical examination, imaging evaluation and laboratory investigations such as serological markers [alpha-fetoprotein (AFP)] for malignant liver lesions. Ultrasound is the initial imaging modality of choice because it can detect, characterize, and provide the extent of liver lesions. However, CT or MRI are often subsequently performed for further characterization, assessment of precise extent, and detection of associated metastatic disease in cases of malignant hepatic neoplasm. Serological markers (such as alpha fetoprotein) can be useful in narrowing the differential diagnosis when they are markedly elevated but a substantial number of patients unfortunately do not have high levels of these markers at the time of presentation or cautious interpretation is warranted as AFP level is frequently elevated in infants up to 6 mo of age and may be slightly elevated with benign tumors and with hepatic insult or regeneration. Therefore, a tissue diagnosis is often required to guide subsequent management. The histology and anatomy of a pediatric liver tumor guides the treatment and prognosis.


Assuntos
Carcinoma Hepatocelular/diagnóstico , Hiperplasia Nodular Focal do Fígado/diagnóstico , Neoplasias Hepáticas/diagnóstico , Criança , Cistos , Diagnóstico Diferencial , Humanos , Fígado , Hepatopatias
8.
Case Rep Radiol ; 2014: 715073, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25574417

RESUMO

Endobronchial fungal infection (EBFI) is notoriously difficult to diagnose early since it may present few systemic features and does not cause characteristic parenchymal lesions on lung CT scanning. We report a 9-year-old girl who suffered extended neutropenia following graft failure after haematopoietic stem cell transplantation (HSCT) for severe aplastic anaemia. CT scan prior to retransplantation was normal despite persistent cough but lobar collapse was shown on repeat scan 16 days later. The probable diagnosis of EBFI (later proven on bronchoscopy) was only suspected when subsequent chest X-ray (CXR) demonstrated lack of an air bronchogram in the partially collapsed lung. Early radiological suspicion resulted in multiagent antifungal therapy followed by delayed lobectomy, and led to this being the first reported case of Aspergillus EBFI not to result in respiratory failure.

9.
J Clin Ultrasound ; 31(3): 163-6, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12594803

RESUMO

A case of Bouveret's syndrome with obstruction of the duodenojejunal flexure diagnosed preoperatively by sonography is presented. A 48-year-old man with a history of cholelithiasis presented with colicky pain of 2 days' duration. Real-time sonography revealed a fluid-distended stomach and duodenum and a 3.4-cm bright curvilinear echo with dense shadowing in the duodenojejunal flexure, suggesting a gallstone. In addition, there was pneumobilia and evidence of chronic cholecystitis. The findings were confirmed with CT, which showed a partially calcified gallstone at the duodenojejunal flexure, pneumobilia, and a fistulous communication between the gallbladder and duodenum. At surgery, a large gallstone was found impacted at the duodenojejunal flexure. The stone and gallbladder were successfully removed and the fistula repaired. The sonographic diagnosis of Bouveret's syndrome enabled early surgical intervention.


Assuntos
Colelitíase/diagnóstico por imagem , Obstrução Duodenal/diagnóstico por imagem , Colelitíase/complicações , Obstrução Duodenal/etiologia , Duodeno/diagnóstico por imagem , Humanos , Jejuno/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Síndrome , Tomografia Computadorizada por Raios X , Ultrassonografia
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