Fetal intracranial hemorrhage represents a rare event with an estimated prevalence of 1:10 000 pregnancies. We report a patient diagnosed prenatally with intracranial hemorrhage and ventriculomegaly carrying a novel, previously unreported, likely pathogenic variant in COL4A1. At the gestational age of 27 weeks, dilation of lateral ventricles was detected during a routine prenatal ultrasound scan, confirmed by prenatal MRI at 30 + 3 weeks of gestation. Prenatal examinations included amniocentesis with conventional G-band karyotyping and arrayCGH, and maternal testing for TORCH and parvovirus B19 infections. Virtual gene panel based on whole-exome sequencing data was performed postnatally. At the age of 2.5 months, the patient manifested epileptic seizures that remain difficult to control. Postnatal MRI showed partial thalamic fusion and polymicrogyria, in addition to severe enlargement of lateral ventricles, multiple deposits of hemosiderin in cerebral and cerebellar hemispheres, and thin optic nerve and chiasma. Virtual gene panel based on whole-exome sequencing data led to a detection of a de novo previously unreported in-frame deletion NM_001845.5:c.4688_4711del in COL4A1 located in the highly conserved NC1 domain initiating collagen helix assembly. The presented case lies one a more severe end of the COL4A1 mutation-related disease spectrum, manifesting as fetal intracranial bleeding, malformation of cortical development, drug-resistant epilepsy, and developmental delay.

• MeSH
• Hydrocephalus * MeSH
• Intracranial Hemorrhages MeSH
• Infant MeSH
• Collagen Type IV genetics   MeSH
• Humans MeSH
• Mutation MeSH
• Fetus MeSH
• Polymicrogyria * genetics   MeSH
• Pregnancy MeSH
• Check Tag
• Infant MeSH
• Humans MeSH
• Pregnancy MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Case Reports MeSH
• Research Support, Non-U.S. Gov't MeSH

Vývoj kortexu se děje postupně pomocí migrace jednotlivých neuronálních populací tak, že se vytváří laminace nejprve nejhlubší vrstvy, poté postupně migrují neurony přes ni a tvoří u neokortexu postupně jeho šest vrstev. Migrační poruchy vývoje kortexu zahrnují fokální, laminární a subkortikální formu kortikální heterotopie, lyssencefalii a mezi poruchy migrace a vrstvení kortexu patří i polymikrogyrie. Přehledová práce podává přehled o morfologii kortexu a jednotlivých typech migračních poruch a obrazu v magnetické rezonanci.

Development of the neocortex is the action of the successive migration of the individual neuronal populations in pattern, that the deepest lamina is created at first, the others are developer one by one migrating through the previously formed, all six laminae are developed at the end of migration. Migration disorders are covered cortical heterotopias (nodular, laminar, subcortical), lissencephaly and also polymicrogyria. The article gives the review of the cortical morphology and individual migration disorders and their magnetic resonance imaging.

• MeSH
• Humans MeSH
• Magnetic Resonance Imaging MeSH
• Malformations of Cortical Development * diagnostic imaging   classification   pathology   MeSH
• Cerebral Cortex anatomy & histology   diagnostic imaging   growth & development   MeSH
• Neocortex anatomy & histology   MeSH
• Polymicrogyria diagnostic imaging   classification   pathology   MeSH
• Gray Matter * abnormalities   anatomy & histology   growth & development   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Research Support, Non-U.S. Gov't MeSH
• Review MeSH

OBJECTIVE: We aimed to (1) assess the concordance between various polymicrogyria (PMG) types and the associated epileptogenic zone (EZ), as defined by stereoelectroencephalography (SEEG), and (2) determine the postsurgical seizure outcome in PMG-related drug-resistant epilepsy. METHODS: We retrospectively analyzed 58 cases: 49 had SEEG and 39 corticectomy or hemispherotomy. RESULTS: Mean age at SEEG or surgery was 28.3 years (range, 2-50). PMG was bilateral in 9 (16%) patients and unilateral in 49, including 17 (29%) unilobar, 12 (21%) multilobar, 15 (26%) perisylvian, and only 5 (9%) hemispheric. Twenty-eight (48%) patients additionally had schizencephaly, heterotopia, or focal cortical dysplasia. The SEEG-determined EZ was fully concordant with the PMG in only 8 (16%) cases, partially concordant in 74%, and discordant in 10%. The EZ included remote cortical areas in 21 (43%) cases and was primarily localized in those in 5 (10%), all related to the mesial temporal structures. All but 1 PMG patient with corticectomy or hemispherotomy had a unilateral PMG. At last follow-up (mean, 4.6 years; range, 1-16), 28 (72%) patients remained seizure free. Shorter epilepsy duration to surgery was an independent predictor of seizure freedom. INTERPRETATION: PMG-related drug-resistant epilepsy warrants a comprehensive presurgical evaluation, including SEEG investigations in most cases, given that the EZ may only partially overlap with the PMG or include solely remote cortical areas. Seizure freedom is feasible in a large proportion of patients. PMG extent should not deter from exploring the possibility of epilepsy surgery. Our data support the early consideration of epilepsy surgery in this patient group. Ann Neurol 2017;82:781-794.

• MeSH
• Child MeSH
• Adult MeSH
• Electroencephalography methods   MeSH
• Middle Aged MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Brain physiopathology   MeSH
• Polymicrogyria complications   physiopathology   MeSH
• Child, Preschool MeSH
• Drug Resistant Epilepsy complications   physiopathology   surgery   MeSH
• Retrospective Studies MeSH
• Treatment Outcome MeSH
• Check Tag
• Child MeSH
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Male MeSH
• Child, Preschool MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Multicenter Study MeSH

Epilepsie, onemocnění mozku projevující se opakovanými spontánními záchvaty, představuje závažný medicínský i sociální problém postihující 0,5–1 % populace. Epilepsie může být způsobena širokým spektrem lézí, mezi které patří vrozené vývojové či metabolické vady mozku, ně­kte­ré tumory, cévní anomálie, pozánětlivé, potraumatické nebo pooperační změny. Epilepsie se může rozvinout také v důsledku inzultů v prenatálním, perinatálním a časně postnatálním období. Úkolem zobrazovacích metod je co nejspolehlivěji prokázat potenciálně epileptogenní intrakraniální změny a pomoci určit etiologii epilepsie. Záchyt epileptogenní léze je významný zvláště u pacientů s farmakorezistentní epilepsií, kteří by mohli být vhodnými kandidáty pro chirurgickou léčbu.

Epilepsy, a central nervous system disorder causing recurrent unprovoked seizures, remains a severe medical problem with a profound social impact on quality of life. The prevalence in population is 0.5–1%. Epilepsy is associated with various brain lesions such as developmental and metabolic disorders, some tumours, vascular malformations, postinfectious and postoperative changes or traumatic brain injury. Epilepsy can also develop as a result of prenatal, perinatal or early postnatal insults to the brain. The aim of diagnostic imaging is to identify underlying pathologies and to determine etiology of epilepsy. Identification of the epileptogenic focus is important especially for patients with pharmacoresistant epilepsy who could benefit from surgical treatment. Key words: epilepsy – magnetic resonance imaging –malformations of cortical development – focal cortical dysplasia of Taylor – tuberous sclerosis – classical lissencephalies and subcortical band heterotopias – lissencephaly – polymicrogyria – schizencephaly – hemimegalencephaly – Sturge-Weber syndrom The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manu­script met the ICMJE “uniform requirements” for biomedical papers.

• Keywords
• poruchy vývoje mozkové kůry, heterotopie šedé hmoty,
• MeSH
• Epilepsy, Temporal Lobe diagnosis   MeSH
• Epilepsy * diagnosis   etiology   MeSH
• Hemimegalencephaly diagnosis   MeSH
• Hippocampus pathology   MeSH
• Classical Lissencephalies and Subcortical Band Heterotopias diagnosis   MeSH
• Drug Resistance MeSH
• Humans MeSH
• Lissencephaly diagnosis   MeSH
• Magnetic Resonance Imaging * MeSH
• Malformations of Cortical Development diagnosis   MeSH
• Polymicrogyria diagnosis   MeSH
• Schizencephaly diagnosis   MeSH
• Sturge-Weber Syndrome diagnosis   MeSH
• Tuberous Sclerosis diagnosis   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Research Support, Non-U.S. Gov't MeSH
• Review MeSH

Worster-Droughtův syndrom (WDS) je mírná perisylvijská forma dětské mozkové obrny. Ačkoli příznaky lze pozorovat již od prvního roku života, diagnóza WDS bývá většinou stanovena až v mnohem pozdějším věku. Přitom syndrom v populaci není vzácný a diagnostika není obtížná. Mezioborová skupina si dala za cíl přiblížit tuto problematiku naší odborné i laické veřejnosti.

Worster-Drought syndrome (WDS) is a mild form of cerebral palsy. Although the symptoms can be seen from the first year of life, the WDS is usually diagnosed in a much later age even the syndrome is not rare in the population and even the diagnosis is not difficult to be determined. An interdisciplinary group has been set to bring this issue to our experts and to our general public.

• Keywords
• pseudobulbární, kvadruparéza,
• MeSH
• Child MeSH
• Epilepsy etiology   MeSH
• Financing, Organized MeSH
• Cognition Disorders etiology   MeSH
• Humans MeSH
• Cerebral Palsy complications   MeSH
• Polymicrogyria MeSH
• Deglutition Disorders etiology   complications   therapy   MeSH
• Speech Disorders etiology   therapy   MeSH
• Pseudobulbar Palsy diagnosis   complications   MeSH
• Check Tag
• Child MeSH
• Humans MeSH