RESUMO
Taybi-Linder syndrome (TALS, OMIM 210710) is a rare autosomal recessive disorder belonging to the group of microcephalic osteodysplastic primordial dwarfisms (MOPD). This syndrome is characterized by short stature, skeletal anomalies, severe microcephaly with brain malformations and facial dysmorphism, and is caused by mutations in RNU4ATAC. RNU4ATAC is transcribed into a non-coding small nuclear RNA which is a critical component of the minor spliceosome. We report here four foetuses and four unrelated patients with RNU4ATAC mutations. We provide antenatal descriptions of this rare syndrome including unusual features found in two twin foetuses with compound heterozygosity for two rare mutations who presented with mild intrauterine growth retardation and atypical dysmorphic facial features. We also carried out a literature review of the patients described up to now with RNU4ATAC mutations, affected either with TALS or Roifman syndrome, a recently described allelic disorder.
Assuntos
Anormalidades Múltiplas/genética , Cardiomiopatias/genética , Nanismo/genética , Retardo do Crescimento Fetal/genética , Síndromes de Imunodeficiência/genética , Retardo Mental Ligado ao Cromossomo X/genética , Microcefalia/genética , Osteocondrodisplasias/genética , RNA Nuclear Pequeno/genética , Doenças Retinianas/genética , Anormalidades Múltiplas/fisiopatologia , Alelos , Cardiomiopatias/fisiopatologia , Criança , Pré-Escolar , Nanismo/fisiopatologia , Feminino , Retardo do Crescimento Fetal/fisiopatologia , Feto , Humanos , Síndromes de Imunodeficiência/fisiopatologia , Lactente , Recém-Nascido , Masculino , Retardo Mental Ligado ao Cromossomo X/fisiopatologia , Microcefalia/fisiopatologia , Mutação , Osteocondrodisplasias/fisiopatologia , Fenótipo , Doenças da Imunodeficiência Primária , Doenças Retinianas/fisiopatologia , Spliceossomos/genéticaRESUMO
Granular cell tumour is a rare soft tissue neoplasm that can virtually affect any site of the body. Its histological origin is controversial, since several studies have shown that different cells are involved. Granular cell tumour was initially described as myoblastoma, but, at present, a neural origin is supported by most Authors, due to the immunohistochemical pattern. Even if the biological behaviour of granular cell tumours is usually benign, accurate histological examination is mandatory, because in a small number of cases they can be malignant. Here, a case is described of granular cell tumour in a 14-year-old boy, which is a very rare occurrence, since these tumours typically manifest in subjects between the third and sixth decade. Histopathological features, differential diagnosis and therapeutic implications of granular cell tumour are discussed, together with a brief review of the recent literature.
