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1.
J Child Neurol ; 23(6): 683-9, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18182642

RESUMO

Five members from 3 generations, including a 35-year-old woman and her 2 sons, both mentally impaired to a different degree, were studied in a tertiary care hospital. Anamnestic, clinical, neurological, and radiological evaluations were used to describe phenotypes. A and B postaxial polydactyly, transmitted likely as autosomal dominant, was associated with an extensive variability of phenotypic features: (1) cutaneous syndactyly, (2) nail-teeth dysplasia, (3) osteopenia, and (4) mental delay. The likelihood that the constellation of observations we report here is caused by mutation of a single gene that subsequently affects multiple physiological activities, although fascinating, remains to be proven. Instead, we hypothesize that it likely develops as a contiguous gene syndrome.


Assuntos
Doenças Ósseas Metabólicas/genética , Displasia Ectodérmica/genética , Deficiência Intelectual/genética , Polidactilia/genética , Adolescente , Adulto , Idoso , Doenças Ósseas Metabólicas/diagnóstico , Criança , Aberrações Cromossômicas , Displasia Ectodérmica/diagnóstico , Feminino , Genes Dominantes/genética , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/genética , Humanos , Deficiência Intelectual/diagnóstico , Masculino , Unhas Malformadas/diagnóstico , Unhas Malformadas/genética , Linhagem , Fenótipo , Polidactilia/diagnóstico , Sindactilia/diagnóstico , Sindactilia/genética , Anormalidades Dentárias/diagnóstico , Anormalidades Dentárias/genética
2.
Brain Dev ; 30(1): 53-8, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-17583458

RESUMO

To investigate the clinical picture, the neurophysiological pattern, and neuropathological features of a young woman with severe drug-resistant epilepsy of unknown cause. We used the patient's clinical records from the age of 2 to 20years including neurophysiological patterns recorded via both scalp and cortex electrodes and results of studies conducted on the brain neuropathological specimen. The patient, with severe mental/psychomotor retardation, suffered from severe epilepsy from an early age, characterized by daily seizures of multiple types (atypical absences, tonic, and complex partial seizures), high frequency, and intractability. The neurophysiological pattern indicated multiple independent spike foci (SE-MISF). When she was 16, a vagal nerve stimulator was implanted without success. Neither neuroimaging (brain MRI and ictal SPECT) nor surface EEGs identified unique loci of seizure onset, establishing her as a candidate for a complete callosotomy. When the patient was 19, before the callosotomy, invasive EEG (i.e., electrocorticography) using just a few electrodes in different lobes showed the presence of a distinctive pattern. The surgical specimen, taken very close to one of the activity sites, showed architectural abnormalities and neurons that were giant or immature but not dysmorphic, indicative of focal cortical dysplasia (FCD) type 1b. Twelve months after the callosotomy, according to the Engel score, the patient exhibited a large improvement in quality of life, without permanent complications from the interhemispheric disconnection. (1) Hidden FCD type 1b could represent a missing diagnosis in patients with SE-MISF in the absence of other causes for their seizures. (2) Complete callosotomy can be efficacious in patients with SE-MISF with hidden FCD type 1b.


Assuntos
Córtex Cerebral/anormalidades , Córtex Cerebral/fisiopatologia , Epilepsia/etiologia , Epilepsia/fisiopatologia , Malformações do Desenvolvimento Cortical/complicações , Malformações do Desenvolvimento Cortical/fisiopatologia , Potenciais de Ação/fisiologia , Adulto , Córtex Cerebral/patologia , Corpo Caloso/cirurgia , Denervação , Erros de Diagnóstico/prevenção & controle , Eletrodiagnóstico , Eletroencefalografia , Epilepsia/patologia , Potenciais Evocados/fisiologia , Feminino , Humanos , Deficiência Intelectual/etiologia , Deficiência Intelectual/patologia , Deficiência Intelectual/fisiopatologia , Estudos Longitudinais , Imageamento por Ressonância Magnética , Neurônios/patologia , Procedimentos Neurocirúrgicos , Valor Preditivo dos Testes , Qualidade de Vida , Tomografia Computadorizada de Emissão de Fóton Único , Resultado do Tratamento
3.
Pediatr Dermatol ; 24(3): 267-71, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17542878

RESUMO

We report a 6-year-old girl with a subtle form of hypohidrotic ectodermal dysplasia and a phenotype consisting of curly hair, a round face, a stocky build, and obesity, which was associated with intrathoracic neuroblastoma. Although this new association could be a chance occurrence, its description may alert physicians to look for similar combinations and report these, as it may lead to better syndrome delineation, and patient care.


Assuntos
Displasia Ectodérmica/diagnóstico , Neuroblastoma/complicações , Criança , Displasia Ectodérmica/complicações , Feminino , Febre de Causa Desconhecida/complicações , Cabelo/anormalidades , Humanos , Obesidade/complicações , Glândulas Sudoríparas/anormalidades , Neoplasias Torácicas/complicações , Anormalidades Dentárias
4.
Brain Dev ; 29(6): 373-6, 2007 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-17174051

RESUMO

We report a unique combination of symptoms in a case of Kabuki syndrome (KS), a multiple malformation/mental retardation syndrome that has a prevalence of 1:32,000 to 1:86,000. The patient was a mentally delayed 12-year-old male with trichrome vitiligo, ectodermal defect, and hypogammaglobulinemia A and G. This unique combination of signs, described here for the first time, indicates that KS comprises multiple deficits that affect not only the brain, but ectoderm-derived structures and the immune system as well. Our report may provide important clues for understanding the pathogenesis of the KS.


Assuntos
Anormalidades Múltiplas/fisiopatologia , Agamaglobulinemia/complicações , Displasia Ectodérmica/complicações , Deficiência de IgA , Deficiência de IgG , Deficiência Intelectual/complicações , Vitiligo/complicações , Anormalidades Múltiplas/patologia , Criança , Humanos , Deficiência Intelectual/patologia , Masculino , Vitiligo/patologia
5.
J Child Neurol ; 21(6): 531-3, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16948942

RESUMO

Familial reports of a robertsonian translocation in more than two generations are rare. We report three generations (a daughter, the mother, and the mother's father) with a heterozygous, balanced robertsonian translocation t(13;14)(q11;q11). Central nervous system disease was present, but differentially expressed, in generations I and III. The daughter presented with mental delay and epilepsy, and the mother was apparently healthy, whereas the mother's father was again symptomatic, with borderline intelligence. Fluorescent in situ hybridization analysis was performed to exclude a loss or gain of chromosomal material. No uniparental disomy was present. We concluded that genetic counseling in the presence of this rearrangement was extremely difficult, independent of the affected parent being symptomatic or asymptomatic.


Assuntos
Cromossomos Humanos Par 13/genética , Cromossomos Humanos Par 14/genética , Epilepsia/genética , Deficiência Intelectual/genética , Translocação Genética/genética , Adulto , Criança , Feminino , Humanos , Masculino , Linhagem
6.
Brain Dev ; 28(6): 410-2, 2006 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-16504444

RESUMO

Vertigo in children is relatively under examined in the literature. Among its causes, vestibular neuritis (VN) represents only 2% of cases, with its etiology remaining unknown. We report for the first time a 4-year-old boy with vestibular neuritis and serological results compatible with adenoviral infection. Serological diagnosis was performed on the basis of a rise and consequent normalization of complement fixation (CF) titers of the plasma antibodies. Although we were not able to detect exactly when the infection started, we were able to detect an increased level of adenovirus antibodies by CF titers, followed by a decrease (i.e. 1/16, then 1/8, then <1/4) during the recovery. This is typical of a resolving infection. Furthermore, that this increase in antibodies was specific to an adenovirus infection was suggested by the observation that we did not detect increases in antibodies to other common viruses (i.e. herpes simplex and zoster viruses, Epstein-Barr virus, cytomegalovirus, influenza and parainfluenza viruses). This allows us to exclude the chance of nonspecific antibody activation. We concluded that, although our data do not formally demonstrate an involvement of adenovirus in VN, they suggest such an involvement. This may be of interest, given that a viral etiology for VN has been proposed but not definitively proven.


Assuntos
Adenoviridae/imunologia , Infecções por Adenovirus Humanos/complicações , Neuronite Vestibular/virologia , Adenoviridae/isolamento & purificação , Infecções por Adenovirus Humanos/diagnóstico , Infecções por Adenovirus Humanos/imunologia , Anticorpos Antivirais/sangue , Pré-Escolar , Humanos , Masculino
7.
Biol Trace Elem Res ; 109(2): 97-104, 2006 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-16443999

RESUMO

The aim of the present study was to determine and compare plasma and erythrocyte concentrations of magnesium in 12 autistic children (10 boys, 2 girls), 17 children with other autistic spectrum disorders (14 boys, 3 girls), 5 girls with classic Rett syndrome, and 14 normal children (7 boys, 7 girls) of the same age. No differences in intracellular Mg were found between controls and pathological subjects; however, autistic children and children with other autistic spectrum disorders had significantly lower plasma concentrations of Mg than normal subjects (p=0.013 and p=0.02, respectively). Although our study population was small, we conclude that children with autistic spectrum disorders require special dietary management. If these cases are diagnosed at an early stage, they can be helped through diet.


Assuntos
Transtorno Autístico/sangue , Eritrócitos/química , Magnésio/sangue , Adolescente , Transtorno Autístico/dietoterapia , Estudos de Casos e Controles , Criança , Pré-Escolar , Interpretação Estatística de Dados , Suplementos Nutricionais , Feminino , Humanos , Lactente , Magnésio/uso terapêutico , Masculino , Síndrome de Rett/sangue , Síndrome de Rett/dietoterapia
8.
Brain Dev ; 28(3): 155-61, 2006 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-16368207

RESUMO

UNLABELLED: Global developmental delay is a serious social problem. It is often unrecognized and the phenotypes are inadequately studied. To investigate the phenotypes of children with aspecific central nervous system (CNS) impairment (poor speech, maladaptive behavioral symptoms such as temper tantrums, aggressiveness, poor concentration and attention, impulsiveness, and mental retardation). SETTING: Tertiary care hospital. PATIENTS: Three children (two male siblings, and one unrelated girl). METHODS: We used the results from clinical neurological evaluations; imaging and electrodiagnostic studies; metabolic and genetic tests; skin biopsies and bone mineral densitometry. All three children suffered from (A) global developmental delay, (B) osteopenia, and (C) identical skin defects. The skin ultrastructural abnormalities were abnormal keratin differentiation, consisting of hyperkeratosis and granular layer thickening; sweat gland abnormalities, consisting of focal, cytoplasmic clear changes in eccrine secretory cells; and melanocyte abnormalities, with both morphological changes (reduced number and size without evident dendritic processes), and functional changes (defects in the migration of melanosomes in the keratinocytes). These patients present a previously unrecognized syndrome. We retain useful to report this new association, to be recognized, in the next future, as a specific key-sign of a well-defined genetic defect.


Assuntos
Doenças Ósseas Metabólicas/genética , Deficiências do Desenvolvimento/genética , Ectoderma/patologia , Pele/patologia , Biópsia , Criança , Pré-Escolar , Feminino , Humanos , Deficiência Intelectual/genética , Queratinas/metabolismo , Masculino , Melanócitos/patologia , Irmãos , Glândulas Sudoríparas/anormalidades , Síndrome
9.
Clin Neurophysiol ; 117(1): 223-7, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16326141

RESUMO

OBJECTIVE: Epilepsy with mutation of the CDKL5 gene causes early seizures and is a variant of Rett syndrome (MIM (312750), which is reported typically as infantile spasms. The purpose of this study was to analyze the epileptic histories and EEGs of patients with the CDKL5 mutation. METHODS: We reviewed the epilepsy histories and electroclinical analyses of three girls aged 9.5, 7.4, and 9.4 years, each with a mutation of the CDKL5 gene. RESULTS: We revealed the presence of an encephalopathy that started by 1.5 months of age. At first, seizures involved tonic spasms or complex partial seizures, and were complicated by the later appearance of complex partial, tonic, and unexpectedly, myoclonic seizures. This form of epilepsy was drug resistant. Routine and prolonged video EEGs both displayed a homogeneous electroclinical pattern consisting of (a) unique background with diffuse high voltage sharp waves of 6-7 Hz, and absence of the typical rhythmic frontal-central theta activity present in Rett syndrome; (b) unique awake and sleep background, with diffuse, high voltage, continuous sharp waves with multifocal and diffuse spikes; (c) rhythmic, diffuse, 15 Hz activity accompanied clinically by tonic seizures; (d) intercritical pattern with pseudoperiodic, diffuse, sharp waves or pseudoperiodic, diffuse spike and polyspike or wave discharges; and (e) diffuse, spike, polyspike and wave discharges accompanied by massive or focal myoclonias or both. CONCLUSIONS: Patients with the CDKL5 mutation have an early onset, epileptic encephalopathy in infancy that evolves into myoclonic seizures in childhood with a unique EEG pattern. SIGNIFICANCE: Recognizing this type of encephalopathy could be useful in prompting clinicians to proceed further with their diagnostic work in patients not fitting the criteria of classical Rett syndrome.


Assuntos
Epilepsias Mioclônicas/genética , Mutação , Proteínas Serina-Treonina Quinases/genética , Criança , Eletroencefalografia/métodos , Epilepsias Mioclônicas/fisiopatologia , Feminino , Humanos
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