RESUMO
A female adult patient with extensive bilateral periventricular nodular heterotopia (PNH), who was referred for bilateral hippocampal deep brain stimulation (Hip-DBS), was investigated. She presented with daily focal aware and impaired-awareness seizures with automatism and weekly generalized tonic-clonic seizures. Her EEG showed bilateral independent ictal and interictal neocortical temporal lobe discharges and her MRI showed extensive, symmetric PNH. She was treated with bilateral Hip-DBS which led to a major decrease in her seizure frequency (one seizure per trimester). The outcome was stable over three years, and there was no additional neuropsychological deficits or device-related adverse effects. This is the first reported patient to be undergo long-term continuous Hip-DBS to treat bilateral PNH. DBS, a non-lesional, reversible, neuromodulatory technique, may prove to be a good therapeutic option in patients with extensive bilateral epileptogenic networks who present with temporal lobe epilepsy and who are usually considered poor candidates for resective surgery.
Assuntos
Estimulação Encefálica Profunda , Epilepsia/terapia , Hipocampo , Heterotopia Nodular Periventricular/terapia , Adulto , Eletroencefalografia , Epilepsia/etiologia , Feminino , Humanos , Heterotopia Nodular Periventricular/complicaçõesRESUMO
OBJECTIVE: To describe a series of patients with pathogenic variants in FLNA and progressive lung disease necessitating lung transplantation. STUDY DESIGN: We conducted a retrospective chart review of 6 female infants with heterozygous presumed loss-of-function pathogenic variants in FLNA whose initial presentation was early and progressive respiratory failure. RESULTS: Each patient received lung transplantation at an average age of 11 months (range, 5-15 months). All patients had pulmonary arterial hypertension and chronic respiratory failure requiring tracheostomy and escalating levels of ventilator support before transplantation. All 6 patients survived initial lung transplantation; however, 1 patient died after a subsequent heart-lung transplant. The remaining 5 patients are living unrestricted lives on chronic immunosuppression at most recent follow-up (range, 19 months to 11.3 years post-transplantation). However, in all patients, severe ascending aortic dilation has been observed with aortic regurgitation. CONCLUSIONS: Respiratory failure secondary to progressive obstructive lung disease during infancy may be the presenting phenotype of FLNA-associated periventricular nodular heterotopia. We describe a cohort of patients with progressive respiratory failure related to a pathogenic variant in FLNA and present lung transplantation as a viable therapeutic option for this group of patients.
Assuntos
Filaminas/genética , Hipertensão Pulmonar/cirurgia , Pneumopatias/genética , Pneumopatias/cirurgia , Transplante de Pulmão , Insuficiência Respiratória/cirurgia , Criança , Pré-Escolar , Feminino , Humanos , Hipertensão Pulmonar/etiologia , Lactente , Insuficiência Respiratória/etiologia , Estudos Retrospectivos , Resultado do TratamentoRESUMO
INTRODUCTION: Septo-optic dysplasia (De Morsier syndrome) is defined as the association between optic nerve hypoplasia, midline central nervous system malformations and pituitary dysfunction. CASE REPORT: Third child born to nonconsanguineous parents, female, adequate pre-natal medical care, cesarean term delivery due to breech presentation, Apgar score 3 at the first minute and 8 at 5 minutes, symptomatic hypoglycemia at 18 hours. Neurological follow-up identified a delay in acquisition of motor and language developmental milestones. Epileptic generalized seizures began at 12 months and were controlled with phenobarbital. EEG was normal. MRI revealed agenesis of the pituitary stalk, hypoplasia of the optic chiasm and periventricular nodular heterotopia. Ophthalmologic evaluation showed bilateral optic disk hypoplasia. Endocrine function laboratory tests revealed primary hypothyroidism and hyperprolactinemia. CONCLUSION: The relevance of this case report relies on its uniqueness, since periventricular heterotopia had not been described in association with septo-optic dysplasia until 2006.
INTRODUÇÃO: Displasia septo-óptica (síndrome de De Morsier) é definida como a associação entre hipoplasia do nervo óptico, malformações de linha média do sistema nervoso central e disfunção pituitária. RELATO DE CASO: Terceiro filho, pais não consangüíneos, sexo feminino, pré-natal adequado, parto cesário a termo por apresentação pélvica, Apgar 3 no primeiro minuto e 8 no quinto minuto, hipoglicemia sintomática com 18 horas de vida. Durante o acompanhamento neurológico identificou-se atraso na aquisição dos marcos de desenvolvimento motor e linguagem. Crises epilépticas generalizadas iniciaram com 12 meses de vida sendo controladas com fenobarbital. EEG era normal. Ressonância magnética revelou agenesia de haste pituitária, hipoplasia de quiasma óptico e heterotopia nodular periventricular. Avaliação oftalmológica demonstrou hipoplasia bilateral de disco óptico. Investigação da função endócrina revelou hipotireoidismo primário e hiperprolactinemia. CONCLUSÃO: A relevância deste relato reside em seu ineditismo, já que heterotopia periventricular não havia sido descrita em associação com displasia septo-óptica até 2006.