Assuntos
Doenças do Prematuro/diagnóstico por imagem , Ultrassonografia , Artefatos , Sequestro Broncopulmonar/diagnóstico por imagem , Idade Gestacional , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Pneumonia Aspirativa/diagnóstico por imagem , Síndrome do Desconforto Respiratório do Recém-Nascido/diagnóstico por imagemRESUMO
Isolated abnormalities in terminal regions of chromosomes 10q and 22q were formerly described in patients affected by neuropsychological impairment, abnormal facies, and heterogeneous structural abnormalities of the body. Chromosomes 10q and 22q harbor important genes that play a major role in CNS development, like DOCK1 and SHANK3, and in overall body growth, like FGFR2 and HTRA1. By using clinical, neuroradiological, neurophysiological, and genetic assessment, we studied 3 siblings affected by 2 different forms of very severe neuropsychological impairment with structural physical abnormalities, epilepsy, and body overgrowth. The genetic analysis revealed 2 different unbalanced translocations t(10;22)(q26.13;q13.32) of genetic material between the long arms of chromosomes 10 and 22, deriving from a maternal balanced translocation. Consequences of the unbalanced translocation were the simultaneous partial monosomy of 10q26.13 to 10qter and partial trisomy of 22q13.32 to 22qter in 2 patients and the simultaneous trisomy distal q10 and monosomy distal q22 in 1 patient, respectively. To the best of our knowledge, we here describe for the first time a causal association between an unbalanced translocation t(10;22) affecting the long arms of both chromosomes 10 and 22 and a very severe neurodevelopmental delay in 3 siblings.
Assuntos
Transtorno Autístico/genética , Cromossomos Humanos Par 10/genética , Cromossomos Humanos Par 22/genética , Epilepsia/genética , Transtornos do Neurodesenvolvimento/genética , Distúrbios da Fala/genética , Translocação Genética/genética , Anormalidades Múltiplas/genética , Adolescente , Criança , Deleção Cromossômica , Hibridização Genômica Comparativa/métodos , Feminino , Humanos , Cariotipagem/métodos , Masculino , Síndrome , Trissomia/genéticaRESUMO
Dyggve-Melchior-Clausen syndrome (DMC) (MIM 223800) and Smith-McCort dysplasia (SMC) (MIM 607326) are rare allelic autosomal recessive spondylo-epi-metaphyseal dysplasias (SEMDs) characterized by similar skeletal manifestations. Both phenotypes have been mapped to chromosome 18q21.1 and mutations in the DYM (dymeclin) gene were identified in 13 families with DMC and in two families with SMC. Most mutations identified in DMC predict a loss of function, while those identified in SMC are mainly missense mutations, presumably associated with residual DYM activity and a less severe phenotype. We studied three consanguineous families from Turkey, Lebanon, and Georgia, one with SMC and two with DMC and identified different homozygous DYM mutations (IVS3 194-1G > A, 938_942delTGTCT) in the DMC families. No mutation was identified in the SMC family, possibly suggesting genetic heterogeneity of this disorder.
Assuntos
Heterogeneidade Genética , Osteocondrodisplasias/genética , Proteínas/genética , Adolescente , Sequência de Bases , Criança , Consanguinidade , Análise Mutacional de DNA , Saúde da Família , Feminino , Fibroblastos/patologia , Fibroblastos/ultraestrutura , Genes Recessivos/genética , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Masculino , Microscopia Eletrônica , Mutação , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/patologia , Linhagem , Radiografia , Deleção de Sequência , SíndromeRESUMO
BACKGROUND: The natural history of incidentally discovered testicular microlithiasis in children has not been well defined. Although a benign condition, this entity has been found to be associated with testicular malignancies. OBJECTIVE: To determine the spectrum of sonographic findings and clinical implications in children with testicular microlithiasis. MATERIALS AND METHODS: During a 3.5-year period, 850 scrotal examinations with grey-scale US detected testicular microlithiasis in 16 boys (1.9%), age range 6-18 years. The US records of these patients were retrospectively analysed for distribution and pattern of this finding. The presence of intratesticular pathology was determined and the medical records and pathological reports were reviewed. In five patients, US re-evaluation up to 6 years could be performed. RESULTS: Typical punctate hyperechoic foci were found bilaterally in all cases except five, which showed only unilateral foci. Additional pathology was depicted in four patients (chorioncarcinoma n=1; a cystic lesion in a patient with a large-cell calcifying Sertoli-cell tumour, n=1; diffuse structural alterations after orchidopexy, n=2). No testicular tumour developed during clinical follow-up. CONCLUSIONS: The association with benign and malignant testicular tumours, as described in adults, also seems valid in the paediatric age group. Therefore, children with testicular microlithiasis should have clinical and US long-term follow-up.
