RESUMO
OBJECTIVE: To investigate epidemiological and clinical trends of cases of cerebral palsy between 1983 and 2007 in Himeji, Hyogo, Japan. METHODS: A retrospective chart review of all children diagnosed with cerebral palsy and evaluated for complications at the authors' clinic in the targeted 25-year period was conducted. Collected data were analyzed and compared across five 5-year blocks (I : 1983-1987, II : 1988-1992, III : 1993-1997, IV : 1998-2002, V : 2003-2007). RESULTS: The incidence of cerebral palsy per 1000 live births increased until block IV (I : 1.4, II : 2.0, III : 2.2, IV : 2.9) and then dropped to 2.0 in block V. The most frequent cause of cerebral palsy was periventricular leukomalacia, which was common in preterm births. The frequencies of twins and triplets were highest in block IV, contributing to the elevated incidence of cerebral palsy in this block. In terms of complication severity, mild cases increased during the study period while the percentage of severe cases remained high, thus resulting in a polarized distribution of severity in block V. CONCLUSIONS: The features of cerebral palsy were observed to change during the study period, most likely as functions of the recent progress in perinatal.
Assuntos
Paralisia Cerebral/epidemiologia , Peso ao Nascer , Idade Gestacional , Humanos , Incidência , Recém-Nascido , Japão/epidemiologia , Prole de Múltiplos Nascimentos , Estudos Retrospectivos , Fatores de RiscoRESUMO
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by epilepsy, mental retardation, skin lesions, and tumors in various organs. However, TSC is sometimes difficult to diagnose because of its broad phenotypic spectrum. In such cases, it is essential to find a mutation in the disease-causing genes, TSC1 and TSC2. In this study, we analyzed 21 TSC patients from 16 families using a combination method of DHPLC and nucleotide sequencing. We identified 16 novel mutations in the 16 families: nine mutations in TSC1 (1 insertion, 7 deletion and 1 nonsense mutations) and seven mutations in TSC2 (2 insertion, 2 deletion, 1 missense mutations and 2 splicing abnormalities). We also tested the possibility of very short alternative splicing due to a variation of the tandem splice-acceptor sites of TSC1 exon 14 in a patient. RT-PCR and sequencing analysis indicated that no alternative splicing occurred in the patient. In conclusion, we confirmed the diagnosis of all patients using mutation analysis and clarified that variation of the tandem splice-acceptor sites in TSC1 exon 14 does not cause a splicing abnormality.
Assuntos
Éxons/genética , Mutação de Sentido Incorreto/genética , Sítios de Splice de RNA/genética , Esclerose Tuberosa/genética , Proteínas Supressoras de Tumor/genética , Alelos , Sequência de Bases , Humanos , Nucleotídeos/genética , Esclerose Tuberosa/patologia , Proteína 1 do Complexo Esclerose Tuberosa , Proteína 2 do Complexo Esclerose TuberosaRESUMO
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly-mental retardation complex caused by mutations in the Zinc Finger Homeobox 1 B gene (ZFHX1B). MWS has been reported in association with Hirschsprung disease (HSCR). MWS is sometimes difficult to diagnose clinically, especially when HSCR is absent. Thus, it is necessary to detect gene abnormalities at the molecular level. Here we report two Japanese girls with MWS, who showed a distinct facial phenotype, severe intellectual disability and epileptic seizures. Major congenital anomalies of the patients were very different. Patient 1 suffered from severe congenital heart disease, but did not show apparent HSCR. Patient 2 suffered from typical HSCR and underwent surgical treatment, but did not have congenital heart disease. According to the gene analysis using white blood cells, they had nonsense mutations in ZFHX1B, R695X and Q433X, respectively. In conclusion, molecular genetic analysis of ZFHX1B is important for a definite diagnosis of MWS which has a wide phenotypic spectrum of congenital anomalies.
Assuntos
Anormalidades Múltiplas/genética , Códon sem Sentido , Fácies , Proteínas de Homeodomínio/genética , Deficiência Intelectual/genética , Proteínas Repressoras/genética , Anormalidades Múltiplas/diagnóstico , Criança , Pré-Escolar , Feminino , Doença de Hirschsprung/genética , Humanos , Deficiência Intelectual/diagnóstico , Japão , Fenótipo , Mutação Puntual , Síndrome , Homeobox 2 de Ligação a E-box com Dedos de ZincoRESUMO
We retrospectively investigated the incidence, neuroimaging findings, and motor and intellectual disability of infants with cerebral palsy (CP) who were born between 1983 and 1997. The incidence of CP was found to have increased gradually and the major cause was periventricular leukomalacia. The prognosis of preterm infants was better than that of term infants. These findings suggest that the increase in the incidence of CP has been due mainly to changes in medical care for neonates.
