Adult ; Asian Continental Ancestry Group ; Female ; Filamins ; genetics ; Humans ; Mutation ; genetics ; Periventricular Nodular Heterotopia ; genetics ; pathology

OBJECTIVE: To explore the genetic bases of 3 patients with periventricular nodular heterotopia and epileptic seizure. METHODS: The clinical data of three patients presenting with periventricular nodular ectopic with epileptic seizure were analyzed. Whole exome sequencing (WES) was performed on the patients, and Sanger sequencing was used to validate the suspected variants. RESULTS: In three female patients, head MRI showed nodular gray matter ectopic in the bilateral ventricle. WES identified the heterozygous c.2720del T(p.Leu907Argfs*39) variant of FLNA gene in case 1 and her mother (case 2), and heterozygous c.1387_1390del GTGC(p.Val463Profs*34) of FLNA gene in case 3. According to the American College of Medical Genetics and Genomics standards and guidelines, the c.2720delT(p.Leu907Argfs*39) and c.1387_1390del GTGC (p.Val463Profs*34) variants of FLNA gene were predicted to be pathogenic (PVS1+PM2+PP1) and likely pathogenic(PVS1+PM2), respectively. CONCLUSION The c.2720delT(p.Leu907Argfs*39) and c.1387_1390del GTGC(p.Val463Profs*34) variants of FLNA gene may be the genetic cause of the three patients.
Epilepsy/genetics* ; Female ; Filamins/genetics* ; Heterozygote ; Humans ; Magnetic Resonance Imaging ; Mutation ; Periventricular Nodular Heterotopia/genetics* ; Seizures

Anomalies of cell migration are due to various kinds of damage(vascular, infectious, teratogenic etc.) which interfere with neuronal migration between the 8th and 24th week of gestation. Periventricular heterotopias are nodular masses which protrude into the ventricular lumen. There is a high frequency of convulsive disorders. A 38-year-old woman presented to a intermittent headache, seizure-like activity and post-ictal subjective weakness on the left side. The computerized tomography findings and physical and neurologic examinations with an EEG revealed no specific abnormal findings. The MRI showed tumor-like nodular mass lesions at right periventricular area. The histological study of stereotactic excised biopsy demonstrated a composition of neuron and glia. After operation, headaches were slightly reduced and there was no reattack of seizure activity. Authors reports one case of periventricular heterotopia with a review of the literature.
Adult ; Biopsy ; Cell Movement ; Electroencephalography ; Female ; Headache ; Humans ; Magnetic Resonance Imaging ; Neuroglia ; Neurologic Examination ; Neurons ; Periventricular Nodular Heterotopia* ; Pregnancy ; Seizures

Ependymal cysts are rare entities that have evoked much controversies regarding their pathogenesis. We report a case of an intracerebral ependymal cyst associated with periventricular heterotopia and microgyria in a 16-year-old girl who was admitted in our institution for evaluation of a 4-year history of seizure. Neurological examination revealed nothing remarkable. Brain magnetic resonance imaging(MRI) showed a cystic mass in the right temporal lobe communicating with the posterior horn of the lateral ventricle by a narrow fistula. Also, Periventricular heterotopia and microgyria of the right cerebral hemisphere were also seen. A right temporal lobectomy that included complete exision of the cyst was performed;during surgery, the fistula connecting the cyst with the lateral ventricle was noted in the posterior temporal lobe. Microscpic examination of the specimen confirmed that the lining of the cyst consisted of simple, ciliated cuboidal epithelium that was similar to that in an ependyma and the lining showed no basement membrane. Adjacent to the cyst, heterotopic gray matter was seen and the cortex of the temporal lobe showed ischemic changes. Postoperatively, the patient made unremarkable recovery except for intermittent episodes of seizure. The clinicopathological features, radiological findings and surgical treatments are discussed in the context of the literature.
Adolescent ; Animals ; Basement Membrane ; Brain ; Cerebrum ; Ependyma ; Epithelium ; Female ; Fistula ; Horns ; Humans ; Lateral Ventricles ; Neurologic Examination ; Periventricular Nodular Heterotopia ; Seizures ; Temporal Lobe

Filamin A is an actin-binding protein and, in humans, is encoded by FLNA gene in the long arm of X chromosome. Filamin A plays a role in the formation of cytoskeleton by crosslinking actin filaments in cytoplasm. FLNA mutations affect cytoskeletal regulatory processes and cellular migrating abnormalities that result in periventricular heterotopia. A 5-month-old girl was hospitalized because of breathing difficulty and was diagnosed as having periventricular heterotopia with laryngomalacia, cricopharyngeal incoordination, pulmonary hypertension, and chronic lung disease. A genetic test was performed to find the cause of periventricular heterotopia, and FLNA gene mutation (c.5998+1G>A) was confirmed for the first time in Korea. After discharge, she developed respiratory failure due to a viral infection at 8 months of her age. In spite of management with mechanical ventilation, she died of pneumothorax and pulmonary hemorrhage. Herein, we report a case of FLNA gene mutation who presented with periventricular nodular heterotopia with respiratory insufficiency.
Actin Cytoskeleton ; Arm ; Ataxia ; Cytoplasm ; Cytoskeleton ; Female ; Filamins ; Hemorrhage ; Humans ; Hypertension, Pulmonary ; Infant ; Korea ; Laryngomalacia ; Lung Diseases ; Periventricular Nodular Heterotopia ; Pneumothorax ; Respiration ; Respiration, Artificial ; Respiratory Insufficiency ; X Chromosome

Aicardi syndrome is defined by the clinical triad infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Infantile spasm begins at early infancy and tends to be controlled poorly. The prognosis is poor in the patient with severe developmental delay and intractable seizures being common. We present a case of Aicardi syndrome in the 9-month-old female infant with infantile spasm, spastic tetraplegia and microcephaly. Her brain MRI revealed corpus callosum agenesis, atrophy of left hemisphere and periventricular heterotopia. She showed bilateral choroidal and optic disc coloboma. We report this case with the review of literatures.
Agenesis of Corpus Callosum ; Aicardi Syndrome* ; Atrophy ; Brain ; Choroid ; Coloboma ; Corpus Callosum ; Female ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Microcephaly ; Periventricular Nodular Heterotopia ; Prognosis ; Quadriplegia ; Seizures ; Spasms, Infantile

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.
Arm ; Child, Preschool ; Chromosomes, Human, Pair 4 ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Female ; Humans ; Intellectual Disability ; Karyotype ; Magnetic Resonance Imaging ; Parturition ; Periventricular Nodular Heterotopia* ; Status Epilepticus* ; Wolf-Hirschhorn Syndrome*