RESUMO
We report the clinico-pathological findings regarding a 9 year-old girl with some clinical features of Kleine-Levin syndrome who died suddently as a result of pulmonary embolism in the course of femoro-iliac thrombophlebitis. Neuropathological examination provided evidence of perivascular inflammatory infiltrates and microglial proliferation of nodular type located in the diencephalon and midbrain. These findings suggest that a localized encephalitis may be the underlying condition in Kleine-Levin syndrome.
Assuntos
Encefalite/patologia , Síndrome de Kleine-Levin/patologia , Mapeamento Encefálico , Criança , Morte Súbita/patologia , Feminino , Humanos , Hipotálamo/patologia , Técnicas Imunoenzimáticas , Mesencéfalo/patologia , Neuroglia/patologia , Embolia Pulmonar/patologia , Núcleos Talâmicos/patologiaRESUMO
Bilateral occipital calcifications, occurring in celiac disease, are factors coming under a particular cerebral syndrome, which also includes epilepsy, migraine-like headache, visual troubles and mental deterioration. They seem to arise from hypofolatemia following gluten-induced enteropathy.
Assuntos
Calcinose/diagnóstico por imagem , Doença Celíaca/diagnóstico por imagem , Dominância Cerebral/fisiologia , Lobo Occipital/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Criança , Diagnóstico Diferencial , Humanos , Masculino , Síndrome de Sturge-Weber/diagnóstico por imagemRESUMO
A severely retarded and dysmorphic girl, carrying an unbalanced X/7 translocation with breakpoints at Xq28 and 7p14, was analyzed by cytogenetic, biochemical and molecular techniques. The X/7 translocated chromosome was found to replicate consistently late in the 105 metaphases analyzed. In 83 of these cells, late replication was limited to the X portion of the abnormal chromosome, whereas in 22 cells incomplete spreading into the autosomal fragment was observed. Southern blot and in situ hybridization experiments with probe G80 (locus D7S373) (previously localized to 7p13-15) and G98 (localized to 7p14-15) assigns the former to 7p15 and the latter to 7p14, thus suggesting the order 7ter-G80-G98-cen. The activity of the enzyme phosphoserine phosphatase localized to 7pter-p14 was increased. Southern blotting experiments with 19 probes spanning the entire X chromosome demonstrated that the translocated chromosome had lost a portion of Xq28 (locus DXS51) but still retained part of Xq27 (F9 locus). The results confirm that the proband is trisomic for the region 7p15-pter and monosomic for the region Xq28-qter. Comparing her phenotype with those of other cases of partial trisomy or monosomy 7p, we confirm that band 7q21 is probably involved in skull development.
Assuntos
Cromossomos Humanos Par 7 , Translocação Genética , Cromossomo X , Anormalidades Múltiplas/genética , Adolescente , Células Cultivadas , Bandeamento Cromossômico , Mapeamento Cromossômico , Feminino , Fibroblastos/citologia , Fibroblastos/enzimologia , Glucuronidase/genética , Humanos , Cariotipagem , Linfócitos/citologia , Linfócitos/enzimologia , Masculino , Monoéster Fosfórico Hidrolases/genéticaAssuntos
Ciproterona/análogos & derivados , Hamartoma/complicações , Neoplasias Hipotalâmicas/complicações , Puberdade Precoce/etiologia , Ciproterona/uso terapêutico , Acetato de Ciproterona , Seguimentos , Hamartoma/tratamento farmacológico , Humanos , Neoplasias Hipotalâmicas/tratamento farmacológico , Lactente , Masculino , Fatores de Tempo , Túber CinéreoRESUMO
Deletion of the short arm of chromosome 9, derived from a 3:1 meiotic segregation in the mother, carrier of a balanced 9/15 translocation, was found in a 3-year-old female. Severe psychomotor retardation with delayed speech, brachicephaly, flat occiput hypertelorism and long upper lip were the main signs in the girl.
