RESUMEN
Abstract Background and objectives 15q tetrasomy is a chromosomal abnormality that is a part of the heterogeneous group of extra structurally abnormal chromosomes. This syndrome is characterized by epilepsy, central hypotonia, developmental delay and intellectual disability, and autistic behavior. This is the first report of the anesthetic management of a patient with this syndrome. Case report We administered general anesthesia for dental treatment in a patient with 15q tetrasomy. Conclusions Appropriate planning for the prevention of complications such as seizures and hypotonia, and for delayed emergence from anesthesia, is required. Specifically, choosing short-acting drugs that do not induce seizures, together with suitable monitoring, resulted in successful anesthetic management of the patient with 15q tetrasomy.
Resumo Justificativa e objetivos Tetrassomia 15q é uma anomalia cromossômica que faz parte do grupo heterogêneo de cromossomos extras, estruturalmente anormais. Essa síndrome é caracterizada por epilepsia, hipotonia central, atraso no desenvolvimento e deficiência intelectual e comportamento autista. Este é o primeiro relato do manejo anestésico de um paciente com essa síndrome. Relato de caso Administramos anestesia geral para tratamento odontológico em um paciente com tetrassomia 15q. Conclusões Um planejamento adequado para prevenir complicações como convulsões e hipotonia e para emergência tardia da anestesia é necessário. O manejo anestésico bem-sucedido do paciente com tetrassomia 15q foi o resultado específico da escolha de fármacos de curta duração que não induzem convulsões e monitoração adequada.
Asunto(s)
Humanos , Masculino , Adulto , Atención Odontológica/instrumentación , Tetrasomía/fisiopatología , Anestesia General/instrumentación , Convulsiones/prevención & control , Hipotonía Muscular/prevención & controlRESUMEN
BACKGROUND: Approximately 100 small supernumerary marker chromosomes (sSMCs) with a non-α-satellite neocentromere structure have been reported in the literature. Of the few derived from chromosome 13, five have consisted of inverted duplicated segment 13q32qter. CASE REPORT: We herein describe the sixth case, characterized by genome wide SNP array, conventional cytogenetics and FISH studies. The de novo occurrence of the marker, the poor prognosis and the presence of hemangiomas are consistent with previous cases. CONCLUSION: We hereby expand the clinical spectrum of this rare cytogenetic disorder and suggest a possible mechanism for the pathogenesis of associated congenital vascular malformations.
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Anomalías Múltiples/genética , Cromosomas Humanos Par 13 , Neoplasias de Cabeza y Cuello/genética , Hemangioma/genética , Laringomalacia/genética , Defectos del Tubo Neural/genética , Tetrasomía/patología , Anomalías Múltiples/patología , Anomalías Múltiples/fisiopatología , Insuficiencia de Crecimiento , Marcadores Genéticos , Neoplasias de Cabeza y Cuello/patología , Neoplasias de Cabeza y Cuello/fisiopatología , Hemangioma/patología , Hemangioma/fisiopatología , Humanos , Lactante , Cariotipificación , Laringomalacia/patología , Laringomalacia/fisiopatología , Masculino , Defectos del Tubo Neural/patología , Defectos del Tubo Neural/fisiopatología , Muerte Súbita del Lactante/diagnóstico , Tetrasomía/fisiopatologíaRESUMEN
We report on a de novo 0.5 Mb triplication (partial tetrasomy) of chromosome 17q25.3 in a 10-year-old girl with severe intellectual disability, infantile seizures (West syndrome), moderate hearing loss, Dandy-Walker malformation, microcephaly, craniofacial dysmorphism, striking cutaneous syndactyly (hands 3-4, feet 2-3), joint laxity, and short stature. The triplication resulted from the unusual combination of a terminal duplication at 17qter and a cryptic translocation of an extra copy of the same segment onto chromosome 10qter. The breakpoint at 17q25.3 was located within the FOXK2 gene. SNP chip analysis suggested that the rearrangement occurred during paternal meiosis involving both paternal chromosomes 17.
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Síndrome de Dandy-Walker/genética , Discapacidad Intelectual/genética , Espasmos Infantiles/genética , Sindactilia/genética , Niño , Puntos de Rotura del Cromosoma , Cromosomas Humanos Par 17/genética , Síndrome de Dandy-Walker/fisiopatología , Femenino , Factores de Transcripción Forkhead/genética , Humanos , Recién Nacido , Discapacidad Intelectual/fisiopatología , Espasmos Infantiles/fisiopatología , Sindactilia/fisiopatología , Tetrasomía/genética , Tetrasomía/fisiopatologíaAsunto(s)
Cromosomas Humanos Par 15 , Convulsiones/genética , Convulsiones/fisiopatología , Tetrasomía/fisiopatología , Discapacidades del Desarrollo/genética , Discapacidades del Desarrollo/fisiopatología , Femenino , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Convulsiones/etiología , SíndromeRESUMEN
BACKGROUND AND OBJECTIVES: Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by a tissue-limited mosaic supernumerary isochromosome 12p. Typical facial dysmorphisms, pigmentary abnormalities, and some major malformations are frequently present. Neurological manifestations include mental retardation, hypotonia, and seizures. Epilepsy incidence ranged from 39 to 59% in a previously reported series. No specific clinical and EEG phenotype has ever been reported to describe seizure features, electroclinical patterns, and response to therapy in PKS. METHODS: This was a multicentre study conducted on 13 Italian children with PKS, as diagnosed by clinical phenotype and confirmed in cultured fibroblasts. All patients underwent several polygraphic video-EEG recordings and brain magnetic resonance imaging. RESULTS AND CONCLUSIONS: All the patients presented with epilepsy and seizures that started at a mean age of 19 months. In six cases, epilepsy started with epileptic spasms (ES) combined with focal seizures in another case. In four cases, seizures were focal, and this was followed by ES in two patients. In only two cases, epilepsy started with myoclonic seizures, and spasms were never observed. The study provides further evidence that epilepsy is a part of the phenotype of PKS, although a specific clinical and EEG pattern could not be identified. Our cases show how ES with late- or first-year onset is the most common type of seizure. Despite a variable prognosis in terms of response to therapy, a significant proportion of patients achieved good seizure control.
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Trastornos de los Cromosomas/fisiopatología , Electroencefalografía , Convulsiones/etiología , Convulsiones/fisiopatología , Adolescente , Edad de Inicio , Niño , Preescolar , Trastornos de los Cromosomas/genética , Cromosomas Humanos Par 12/genética , Electromiografía , Femenino , Fibroblastos/efectos de los fármacos , Fibroblastos/fisiología , Humanos , Lactante , Italia , Imagen por Resonancia Magnética , Masculino , Tetrasomía/fisiopatología , Resultado del TratamientoRESUMEN
OBJECTIVE: Attentional problems, hyperactivity, and impulsivity have been described as behavioral features associated with sex chromosome aneuploidy (SCA). In this study, the authors compare attention-deficit hyperactivity disorder (ADHD) symptoms in 167 participants aged 6 to 20 years with 4 types of SCA (XXY n = 56, XYY n = 33, XXX n = 25, and XXYY n = 53). They also evaluate factors associated with ADHD symptomatology (cognitive and adaptive scores, prenatal vs postnatal ascertainment) and describe the clinical response to psychopharmacologic medications in a subset of patients treated for ADHD. METHODS: Evaluation included medical and developmental history, cognitive and adaptive functioning assessment, and parent and teacher ADHD questionnaires containing DSM-IV criteria. RESULTS: In the total study group, 58% (96/167) met DSM-IV criteria for ADHD on parent-report questionnaires (36% in XXY, 52% in XXX, 76% in XYY, and 72% in XXYY). The Inattentive subtype was most common in XXY and XXX, whereas the XYY and XXYY groups were more likely to also have hyperactive/impulsive symptoms. There were no significant differences in Verbal, Performance, or Full Scale IQ between children with symptom scores in the ADHD range compared with those below the ADHD range. However, adaptive functioning scores were significantly lower in the group whose scores in the ADHD range were compared with those of the group who did not meet ADHD DSM-IV criteria. Those with a prenatal diagnosis of XXY were less likely to meet criteria for ADHD compared with the postnatally diagnosed group. Psychopharmacologic treatment with stimulants was effective in 78.6% (66/84). CONCLUSIONS: Children and adolescents with SCA are at increased risk for ADHD symptoms. Recommendations for ADHD evaluation and treatment in consideration of other aspects of the SCA medical and behavioral phenotype are provided.
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Desarrollo del Adolescente/fisiología , Aneuploidia , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Desarrollo Infantil/fisiología , Aberraciones Cromosómicas Sexuales , Adolescente , Adulto , Trastorno por Déficit de Atención con Hiperactividad/etiología , Niño , Femenino , Humanos , Masculino , Pruebas Neuropsicológicas , Diagnóstico Prenatal , Escalas de Valoración Psiquiátrica , Tetrasomía/fisiopatología , Trisomía/fisiopatología , Escalas de Wechsler , Cariotipo XYY/fisiopatología , Adulto JovenRESUMEN
Down syndrome (DS) is a complex genetic syndrome characterized by intellectual disability, dysmorphism and variable additional physiological traits. Current research progress has begun to decipher the neural mechanisms underlying cognitive impairment, leading to new therapeutic perspectives. Pentylenetetrazol (PTZ) has recently been found to have positive effects on learning and memory capacities of a DS mouse model and is foreseen to treat DS patients. But PTZ is also known to be a convulsant drug at higher dose and DS persons are more prone to epileptic seizures than the general population. This raises concerns over what long-term effects of treatment might be in the DS population. The cause of increased propensity for epilepsy in the DS population and which Hsa21 gene(s) are implicated remain unknown. Among Hsa21 candidate genes in epilepsy, CSTB, coding for the cystein protease inhibitor cystatin B, is involved in progressive myoclonus epilepsy and ataxia in both mice and human. Thus we aim to evaluate the effect of an increase in Cstb gene dosage on spontaneous epileptic activity and susceptibility to PTZ-induced seizure. To this end we generated a new mouse model trisomic for Cstb by homologous recombination. We verified that increasing copy number of Cstb from Trisomy (Ts) to Tetrasomy (Tt) was driving overexpression of the gene in the brain, we checked transgenic animals for presence of locomotor activity and electroencephalogram (EEG) abnormalities characteristic of myoclonic epilepsy and we tested if those animals were prone to PTZ-induced seizure. Overall, the results of the analysis shows that an increase in Cstb does not induce any spontaneous epileptic activity and neither increase or decrease the propensity of Ts and Tt mice to myoclonic seizures suggesting that Ctsb dosage should not interfere with PTZ-treatment.