A neonate with filamin A gene-associated periventricular nodular heterotopia / 中华围产医学杂志

This paper reported a neonate with periventricular nodular heterotopia associated to filamin A ( FLNA) gene mutation. The female patient was born at 29 +6 weeks of gestation to a mother who had intractable seizures and a history of two adverse pregnancy outcomes. Postnatal cranial ultrasound showed multiple hypoechoic masses on the walls of bilateral ventricles, which presented as "sawtooth pattern". MRI revealed gray matter displacement, unclear edge of gray and white matter, wavy bilateral ventricles and multiple nodular signals. Whole exon sequencing showed that the patient carried a maternally-inherited and likely pathogenic heterozygous mutation of chrX:153579307 in the FLNA gene (NM_00111 0556; p.Glu2376fsTer9), which caused the periventricular nodular heterotopia in the neonate. The patient was followed up until eight months of age and no convulsion or obvious abnormality in her growth or development was reported.

Recent advance in periventricular nodular heterotopia related epilepsy / 中华神经医学杂志

Periventricular nodular heterotopia (PNH) is a kind of neuronal migration disorders characterized by masses of gray matter located along the lateral ventricles. The most common secondary symptoms of PNH is epilepsy, and most of them are drug-refractory epilepsy. Diagnosis of PNH has become easier since the rapid development of imaging technology. However, the treatment of PNH related epilepsy is still a great challenge. This paper reviews the role of PNH in epilepsy and the treatment of PNH related epilepsy, in order to provide some reference for clinical colleagues to fully understand PNH related epilepsy.

Clinical and genetic analysis of a patient with periventricular nodular heterotopia 7 caused by NEDD4L gene variant / 中华医学遗传学杂志

Objective@#To explore the genetic basis of a patient featuring global developmental delay, intellectual disability, cleft palate, seizures and hypotonia.@*Methods@#Clinical examination and laboratory tests were carried out. Peripheral blood samples were obtained from the patient and his parents. Whole genomic DNA was extracted and subjected to next generation sequencing. Candidate variation was analyzed by using bioinformatic software and validated by Sanger sequencing.@*Results@#The proband was found to carry a heterozygous c. 2117T>C (p.Leu706Pro) variant of the NEDD4L gene, which was a de novo variant validated by Sanger sequencing and predicted to be likely pathogenic according to the American College of Medical Genetics Guidelines.@*Conclusion@#The heterozygous variant of c. 2117T>C (p.Leu706Pro) of the NEDD4L gene probably underlies the disorders in the patient.

A Case of Wolf-Hirschhorn Syndrome with Periventricular Nodular Heterotopia Presenting with Status Epilepticus

Wolf-Hirschhorn syndrome is a congenital disorder associated with partial deletion of the short arm of chromosome 4. The majority of patients showed characteristic facial anomalies - so called "Greek-Helmet" appearances - mental retardation, growth retardation, and developmental delay. Here we report the case of a 3-year-old girl who was diagnosed as having Wolf-Hirschhorn syndrome immediately at birth with distinct facial anomalies and an abnormal chromosomal karyotype [46,XX,del(4)(p14)]. The patient later presented with status epilepticus and magnetic resonance imaging showed periventricular nodular heterotopia.

De Morsier syndrome associated with periventricular nodular heterotopia: case reporte

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.