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1.
Am J Med Genet A ; 173(12): 3216-3220, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-29136354

RESUMEN

We report on a patient with terminal deletion of the long arm of chromosome 14 displaying brain interhemispheric fusion limited to the midline anterior frontal cortex associated with hypoplastic corpus callosum and incomplete rotation of the left hippocampus in a clinical setting of motor and intellectual disability with poor language, and social behavior abnormalities with aggressiveness. Some possible correlations between clinical signs and symptoms and various aspects of the complex brain malformation are briefly discussed and compared with other known abnormalities of chromosome 14. The different neuropathology of the most common forms and the new forms of holoprosencephaly recently described is also discussed and leads us to suggest classifying the interhemispheric fusion of this case as a "minimal" form of holoprosencephaly. This appears to be the first description in a 14q deletion patient.


Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 14/genética , Holoprosencefalia/genética , Encéfalo/diagnóstico por imagen , Lóbulo Frontal/diagnóstico por imagen , Holoprosencefalia/clasificación , Holoprosencefalia/diagnóstico por imagen , Humanos , Masculino , Neuroimagen , Adulto Joven
2.
PLoS One ; 9(10): e110438, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25354366

RESUMEN

Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, intracerebral haemorrhages, and focal neurological deficits. Familial form shows an autosomal dominant pattern of inheritance with incomplete penetrance and variable clinical expression. Three genes have been identified causing familial CCM: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3. Aim of this study is to report additional PDCD10/CCM3 families poorly described so far which account for 10-15% of hereditary cerebral cavernous malformations. Our group investigated 87 consecutive Italian affected individuals (i.e. positive Magnetic Resonance Imaging) with multiple/familial CCM through direct sequencing and Multiplex Ligation-Dependent Probe Amplification (MLPA) analysis. We identified mutations in over 97.7% of cases, and PDCD10/CCM3 accounts for 13.1%. PDCD10/CCM3 molecular screening revealed four already known mutations and four novel ones. The mutated patients show an earlier onset of clinical manifestations as compared to CCM1/CCM2 mutated patients. The study of further families carrying mutations in PDCD10/CCM3 may help define a possible correlation between genotype and phenotype; an accurate clinical follow up of the subjects would help define more precisely whether mutations in PDCD10/CCM3 lead to a characteristic phenotype.


Asunto(s)
Proteínas Reguladoras de la Apoptosis/genética , Hemangioma Cavernoso del Sistema Nervioso Central/genética , Proteínas de la Membrana/genética , Mutación , Proteínas Proto-Oncogénicas/genética , Adolescente , Adulto , Edad de Inicio , Anciano , Preescolar , Análisis Mutacional de ADN , Femenino , Hemangioma Cavernoso del Sistema Nervioso Central/patología , Humanos , Italia , Masculino , Persona de Mediana Edad , Linaje
3.
Epilepsia ; 54(12): 2204-13, 2013 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-24116895

RESUMEN

PURPOSE: To characterize epileptic phenotype, electroencephalography (EEG) features, and epileptic evolution in patients with ring 14 r(14) syndrome. METHODS: Twenty-two patients with ring chromosome 14 were enrolled in the study. We examined age at onset, seizure semiology and frequency at onset and at follow-up, drug responsiveness/resistance, and interictal/ictal EEG data. The degree of severity of the epileptic phenotype negatively influences child cognitive development. KEY FINDINGS: The incidence of epilepsy in patients with r(14) syndrome is virtually 100%, characterized by early onset, polymorphic seizures, and drug-resistant seizures. In addition, we ascertained focal secondarily generalized epilepsy, seizure cluster tendency, frequent status epilepticus, and a rather typical epilepsy evolution. EEG abnormalities consisted of slow background activity with pseudoperiodic bursts of generalized slow waves in the early stage, focal frontotemporal or temporoposterior slow waves with multifocal spikes interposed, and unusual rhythmic fast recruiting posterior spikes followed by secondary generalization. The degree of severity of the epileptic phenotype negatively influences child cognitive development. SIGNIFICANCE: This study provides a more precise definition of seizure types, natural history, and drug responsiveness of r(14) syndrome, a highly epileptogenic chromosomal condition.


Asunto(s)
Encéfalo/fisiopatología , Epilepsia/genética , Edad de Inicio , Preescolar , Cromosomas Humanos Par 14/fisiología , Electroencefalografía , Epilepsia/fisiopatología , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Cromosomas en Anillo
4.
Epileptic Disord ; 12(3): 222-7, 2010 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-20643614

RESUMEN

Epilepsy is the most common and serious neurological symptom in ring chromosome 14 syndrome, also characterised by mild dysmorphisms, acquired microcephaly, cognitive impairment, hypotonia and ocular abnormalities. Typically, early-onset, polymorphous and drug-resistant seizures are reported. Status epilepticus has not been previously reported. We describe a nine-year-old Caucasian boy with ring 14 syndrome who presented a severe early-onset and drug-resistant focal epilepsy with secondary generalised seizures and repetitive episodes of convulsive and non-convulsive status epilepticus. The electro-clinical evaluation of prolonged seizures and their long-term consequences is important for the practical management of these patients and for a better comprehension of the syndrome.


Asunto(s)
Cromosomas Humanos Par 14/genética , Epilepsias Parciales/fisiopatología , Cromosomas en Anillo , Convulsiones/fisiopatología , Estado Epiléptico/fisiopatología , Niño , Electroencefalografía , Epilepsias Parciales/complicaciones , Humanos , Lactante , Masculino , Convulsiones/complicaciones , Sueño/fisiología , Estado Epiléptico/genética , Vigilia/fisiología
5.
J Child Neurol ; 25(8): 1029-33, 2010 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-20305125

RESUMEN

A case of acute and reversible bilateral basal ganglia with thalami involvement associated with serological evidence of Mycoplasma pneumoniae infection is reported. Increased titers of immunoglobulin M antibodies against GM1 ganglioside components were found during an acute phase of neurological illness. Brain magnetic resonance imaging (MRI) showed bilateral involvement of the basal ganglia and thalamus, which disappeared 1 month later. The child recovered fully after corticosteroid and immunoglobulin therapy, and antiganglioside antibodies returned to within the normal range. The authors speculate on the diagnostic hypothesis regarding selective basal ganglia and thalamic involvement and the relationship with anti-GM1 ganglioside immunoglobulin M antibodies.


Asunto(s)
Autoanticuerpos/sangre , Encefalitis/inmunología , Encefalitis/patología , Neumonía por Mycoplasma/complicaciones , Tálamo/patología , Antibacterianos/uso terapéutico , Autoanticuerpos/biosíntesis , Preescolar , Cuerpo Estriado/patología , Cuerpo Estriado/fisiopatología , Progresión de la Enfermedad , Encefalitis/fisiopatología , Gangliósidos/inmunología , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Imagen por Resonancia Magnética/métodos , Masculino , Neumonía por Mycoplasma/inmunología , Neumonía por Mycoplasma/patología , Esteroides/uso terapéutico , Tálamo/fisiopatología , Resultado del Tratamiento
6.
Epileptic Disord ; 12(1): 65-8, 2010 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-20167565

RESUMEN

Sudden nocturnal events with an affective semiology may have various etiologies, such as nocturnal panic attacks, nightmares, pavor nocturnus and/or different types of focal epileptic seizures, particularly in children. We describe the case of a normally developed boy who, at the age of two years, experienced nocturnal paroxysmal events that occurred about one hour after falling asleep and lasted up to 15 minutes. The clinical picture was characterized by sudden arousal, fear, inconsolable crying and an apparently voluntary search for his mother. The state of consciousness was basically maintained, and the inter-ictal EEG pattern showed independent bilateral centro-temporal spikes and spike-and-wave complexes. The child had a family history of benign partial epilepsy of childhood with rolandic spikes, and the paroxysmal events remitted after valproic acid treatment. This case report highlights the difficulties in the differential diagnosis of panic attacks, nightmares, pavor nocturnus and focal nocturnal epileptic seizures, especially those arising from the temporal and frontal lobes.


Asunto(s)
Nivel de Alerta , Epilepsias Parciales/diagnóstico , Terrores Nocturnos/diagnóstico , Edad de Inicio , Anticonvulsivantes/uso terapéutico , Niño , Diagnóstico Diferencial , Electroencefalografía , Epilepsias Parciales/tratamiento farmacológico , Humanos , Masculino , Sonambulismo/diagnóstico , Resultado del Tratamiento , Ácido Valproico/uso terapéutico , Grabación en Video
7.
Epilepsy Res ; 86(1): 66-71, 2009 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-19520548

RESUMEN

OBJECTIVE: To evaluate the efficacy and tolerability of intravenous (IV) levetiracetam in refractory status epilepticus of migrating partial seizures in infancy (MPSI). METHODS: IV levetiracetam was infused in two infants, first as a loading dose of 60mg/kg in 30min, then at 30mg/kg twice a day. Both infants were continuously monitored with video-EEG before, during and after the drug trial. Blood count, liver enzymes, serum creatinine, ammonia and lactate blood levels were performed repeatedly before and after the IV levetiracetam administration. Follow-up was of 16 and 10 months. RESULTS: EEG monitoring allowed the diagnosis of MPSI, showing the typical seizures pattern in both patients. IV levetiracetam was effective in stopping status epilepticus in both infants. Levetiracetam also prevented the recurrence of status epilepticus during follow-up. No adverse reactions were observed during the infusion phase or during follow-up. CONCLUSIONS: MPSI is a newly recognized epileptic syndrome characterized by early onset of intractable partial seizures arisingly independently and sequentially from both hemispheres, migrating from one region of the brain to another and from one hemisphere to another. We report the efficacy of intravenous levetiracetam in resolving refractory status epilepticus in two infants with this new epilepsy syndrome.


Asunto(s)
Anticonvulsivantes/administración & dosificación , Epilepsia Parcial Sensorial/complicaciones , Piracetam/análogos & derivados , Estado Epiléptico/etiología , Amoníaco/sangre , Recuento de Células Sanguíneas/métodos , Creatina/sangre , Esquema de Medicación , Electroencefalografía/métodos , Estudios de Seguimiento , Humanos , Lactante , Infusiones Intravenosas , Ácido Láctico/sangre , Levetiracetam , Hígado/enzimología , Masculino , Piracetam/administración & dosificación , Estado Epiléptico/tratamiento farmacológico
8.
Am J Med Genet A ; 149A(6): 1116-24, 2009 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-19441122

RESUMEN

The ring 14 (r14) syndrome is a rare condition, whose precise clinical and genetic characterization is still lacking. We analyzed a total of 20 patients with r14 and another 9 patients with a linear 14q deletion. The ring was complete, with no apparent loss of chromosome material, in 6 cases; a terminal 14q deletion, varying in size from 0.65 to 5 Mb, was detected in the remaining 14 cases. Deleted ring chromosomes were 70% paternal and 30% maternal. UPD (14) was never detected. With respect to the linear 14q deletions, three were proximal, varying in size from 4 to 7.2 Mb, and six distal, varying in size from 4.8 to 20 Mb. The majority of the linear deletions were also of paternal origin, and UPD (14) was excluded in all cases. Clinically, the r14 syndrome was characterized by a recognizable phenotype, consisting of shortness of stature, a distinctive facial appearance, microcephaly, scoliosis, and ocular abnormalities, which included abnormal retinal pigmentation, strabismus, glaucoma, and abnormal macula. All patients except one had mental retardation. Drug-resistant epilepsy was another highly consistent finding. Aggressive and hyperactive behavior was noted in about half of the patients. Based on genotype-phenotype correlations, we could deduce that retinal abnormalities, epilepsy, microcephaly, and mental retardation map within the proximal 14q11.2-q12 region. Likewise, behavior disorders and scoliosis could be assigned to the 14q32 region.


Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 14 , Cromosomas en Anillo , Adolescente , Adulto , Niño , Preescolar , Análisis Citogenético , Epilepsia/genética , Facies , Femenino , Marcadores Genéticos , Humanos , Hibridación Fluorescente in Situ , Lactante , Discapacidad Intelectual/genética , Masculino , Repeticiones de Microsatélite , Hibridación de Ácido Nucleico , Análisis de Secuencia por Matrices de Oligonucleótidos , Mapeo Físico de Cromosoma , Síndrome , Adulto Joven
9.
Epileptic Disord ; 10(4): 325-9, 2008 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-19017576

RESUMEN

It has been reported that the clinical presentation of forced normalization can vary from paranoid hallucinatory states to anxiety and conversion phenomena, and that it may occur in both generalised and focal epilepsies. On the basis of the evaluation of a video recording, we found that forced normalization was concomitant with catatonic psychosis in a patient with epilepsy, intellectual disability and pervasive developmental disorder. Catatonic psychosis accompanying forced normalization has not been previously reported. As the psychotic symptoms and quality of life worsen seizure control improves, we believe it may be better for the patient to tolerate some seizures, thus preserving their capacity to interact socially.


Asunto(s)
Anticonvulsivantes/efectos adversos , Anticonvulsivantes/uso terapéutico , Epilepsias Mioclónicas/psicología , Epilepsias Mioclónicas/terapia , Esquizofrenia Catatónica/etiología , Adolescente , Trastornos de la Conducta Infantil/complicaciones , Trastornos de la Conducta Infantil/psicología , Trastornos Generalizados del Desarrollo Infantil/complicaciones , Trastornos Generalizados del Desarrollo Infantil/psicología , Electroencefalografía , Epilepsias Mioclónicas/complicaciones , Femenino , Humanos , Lactante , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/psicología , Convulsiones/etiología , Síndrome
10.
J Child Neurol ; 20(5): 419-23, 2005 May.
Artículo en Inglés | MEDLINE | ID: mdl-15968927

RESUMEN

Epilepsy is common in chromosomal abnormalities, but systematic studies are scanty. We describe an Italian sample of patients with chromosomopathies to establish epilepsy occurrence and clinical electroencephalographic (EEG) features. Forty-five patients with different types of chromosomal abnormalities were analyzed to examine different variables in patients with epilepsy (group 1) and without (group 2) and to compare the types of epilepsy in our cases with respect to a nonselected sample of Italian people with epilepsy. Epilepsy occurred in 51.1% (group 1) of cases and prevailed in autosomal abnormalities but without a statistical significance (P > .05). There was a prevalence of EEG paroxysmal abnormalities in group 1 (P < .0001); continuous spike-waves during sleep were observed in three cases. Profound mental retardation prevailed in group 1 (P < .001) and mild mental retardation in group 2 (P < .05). Generalized epilepsies prevailed significantly (P < .00001). A high-resolution karyotype should be undertaken in all patients with epilepsy presenting with mental retardation when an obvious etiology is not available.


Asunto(s)
Aberraciones Cromosómicas , Epilepsia/genética , Adolescente , Adulto , Electroencefalografía , Epilepsia/fisiopatología , Epilepsia/psicología , Femenino , Estudios de Seguimiento , Humanos , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/genética , Discapacidad Intelectual/fisiopatología , Italia , Cariotipificación , Masculino , Fenotipo
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