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Brain & Development Nov 2016Megalencephalic polymicrogyria syndromes include megalencephaly-capillary malformation and megalencephaly-polymicrogyria-polydactyly-hydrocephalus. Recent genetic...
Megalencephalic polymicrogyria syndromes include megalencephaly-capillary malformation and megalencephaly-polymicrogyria-polydactyly-hydrocephalus. Recent genetic studies have identified that genes in the PI3K-AKT pathway are involved in the pathogenesis of these disorders. Herein, we report a patient who presented with developmental delay, epilepsy and peculiar neuroimaging findings of megalencephaly, polymicrogyria, and symmetrical band heterotopia in the periventricular region. The heterotopias exhibited inhomogeneous signals with undulatory mixtures of gray and white matter, resembling ribbon-like heterotopia, with a predominance in the temporal to occipital regions. These neuroradiological findings were not consistent with those in known megalencephalic polymicrogyria syndromes. No genetic abnormality was identified through whole-exome sequencing. The neuroimaging findings of this patient may represent a novel cortical malformation involving megalencephaly with polymicrogyria and ribbon-like band heterotopia.
Topics: Brain; Classical Lissencephalies and Subcortical Band Heterotopias; Female; Genotyping Techniques; Humans; Infant; Magnetic Resonance Imaging; Megalencephaly; Microarray Analysis; Polymicrogyria
PubMed: 27381655
DOI: 10.1016/j.braindev.2016.06.004 -
European Journal of Medical Genetics Dec 2018We report a 16-month-old male with congenital megalencephaly, polymicrogyria and persistent hypoglycemia caused by a mosaic PIK3CA pathogenic variant. Hypoinsulinaemic,...
We report a 16-month-old male with congenital megalencephaly, polymicrogyria and persistent hypoglycemia caused by a mosaic PIK3CA pathogenic variant. Hypoinsulinaemic, hypoketotic hypoglycaemia is a rare complication of pathogenic variants in the PI3K-AKT-mTOR pathway genes including AKT2, AKT3, CCND2, PIK3R2 and PIK3CA, and has been identified in a PIK3CA mutant mouse model. Our case highlights the importance of considering PI3K-AKT-mTOR pathway variants as a cause for megalencephaly and cortical malformation when the phenotype includes hypoglycaemia. Recognizing the association of hypoglycemia with PI3K-AKT-mTOR pathway variants can provide a clue to the genetic basis of the cortical malformation. Patients with megalencephaly and a cortical malformation may be considered at risk of hypoglycaemia and monitored accordingly, at least until a PI3K-AKT-mTOR pathway variant has been excluded.
Topics: Abnormalities, Multiple; Animals; Class I Phosphatidylinositol 3-Kinases; Humans; Hypoglycemia; Infant; Male; Megalencephaly; Mice; Mutation; Polymicrogyria; Proto-Oncogene Proteins c-akt; Signal Transduction; TOR Serine-Threonine Kinases
PubMed: 29883676
DOI: 10.1016/j.ejmg.2018.06.002 -
European Journal of Medical Genetics Jan 2016Band like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a distinct neuroradiological phenotype initially reported as a pseudo-TORCH syndrome and... (Review)
Review
Band like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a distinct neuroradiological phenotype initially reported as a pseudo-TORCH syndrome and known to result from biallelic mutations in the Occludin(OCLN) gene. This is report of a family of Indian origin with two affected sibs and segregation of a homozygous novel OCLN mutation in the exon 3(NG_028291.1(OCLN_v001):c.252delC). A literature review suggests that renal dysfunction may be an unrecognized phenotypic manifestation of OCLN mutations and monitoring for the same should form part of the clinical care of these individuals.
Topics: Autoimmune Diseases of the Nervous System; Brain; Consanguinity; Exons; Female; Frameshift Mutation; Gene Deletion; Humans; Kidney; Male; Nervous System Malformations; Occludin; Point Mutation; Polymicrogyria
PubMed: 26689621
DOI: 10.1016/j.ejmg.2015.11.014 -
Journal of Child Neurology Jul 2015We report on a male infant who presented with neonatal clonic seizure and was found to have isolated left-sided microtia on clinical examination. Magnetic resonance...
We report on a male infant who presented with neonatal clonic seizure and was found to have isolated left-sided microtia on clinical examination. Magnetic resonance imaging (MRI) of the brain revealed extensive polymicrogyria over the bilateral perisylvian and frontal cortex. He had no other associated anomaly on physical examination, genetics, metabolic, and radio imaging studies. The study of the data collected from the Italian Birth Defect Registry reported the incidence of microtia-anotia as 1.46/10 000. Microtia-anotia can also be found in association with other anomalies that characterizes oculo-auriculo-vertebral spectrum. Although oculo-auriculo-vertebral spectrum has been associated with various cerebral malformations, isolated microtia usually does not have such association. We could not find any report of polymicrogyria in a case of isolated microtia.
Topics: Child, Preschool; Congenital Microtia; Functional Laterality; Humans; Magnetic Resonance Imaging; Male; Polymicrogyria
PubMed: 25227517
DOI: 10.1177/0883073814544367 -
European Journal of Paediatric... 2002A patient with bilateral symmetrical frontoparietal polymicrogyria is reported. Severe developmental delay, mental retardation, spastic tetraplegia, and seizures were...
A patient with bilateral symmetrical frontoparietal polymicrogyria is reported. Severe developmental delay, mental retardation, spastic tetraplegia, and seizures were the main clinical features. Magnetic resonance imaging revealed bilateral thick cortex with irregular gyri and festoon-like grey-white matter junction in the frontoparietal areas. Bilateral frontoparietal polymicrogyria might represent either a severe form of a spectrum of malformations involving the frontoparietal area or a further variety of the congenital bilateral symmetrical polymicrogyria syndromes in addition to bilateral frontal polymicrogyria, bilateral perisylvian syndrome, and bilateral parasagittal parieto-occipital polymicrogyria.
Topics: Child; Electroencephalography; Frontal Lobe; Functional Laterality; Humans; Intellectual Disability; Magnetic Resonance Imaging; Male; Parietal Lobe; Quadriplegia; Severity of Illness Index; Subarachnoid Space
PubMed: 12374591
DOI: 10.1053/ejpn.2002.0599 -
AJNR. American Journal of Neuroradiology Feb 1997
Topics: Adult; Cerebral Cortex; Female; Humans; Radiography
PubMed: 9111668
DOI: No ID Found -
Neurology May 2021
Topics: Abnormalities, Multiple; Humans; Infant; Intellectual Disability; Male; Malformations of Cortical Development; Polymicrogyria; Spasms, Infantile
PubMed: 33402442
DOI: 10.1212/WNL.0000000000011497 -
AJNR. American Journal of Neuroradiology Aug 2018Asymmetry of the corticospinal tract in congenital lesions is a good prognostic marker for preserved motor function after hemispherectomy. This study aimed to assess...
BACKGROUND AND PURPOSE
Asymmetry of the corticospinal tract in congenital lesions is a good prognostic marker for preserved motor function after hemispherectomy. This study aimed to assess this marker and provide a clinically feasible approach in selected cases of unilateral polymicrogyria.
MATERIALS AND METHODS
Corticospinal tract asymmetry of 9 patients with unilateral polymicrogyria substantially affecting the central region was retrospectively assessed on axial T1WI and DTI. Volumes of the brain stem and thalamus and DTI parameters of the internal capsule were measured. Two neuroradiologists independently rated the right-left asymmetry at 4 levels along the corticospinal tract. DTI tractography was used to determine the motor cortex within polymicrogyria, with task-based functional MR imaging available in 3/9 cases.
RESULTS
Visual assessment of the brain stem asymmetry showed excellent correlation with quantitative measures on both T1WI and color-coded DTI maps ( = .007 and = .023). Interrater reliability regarding structural and DTI-based corticospinal tract asymmetry was best at the midbrain (Cohen κ = 0.77, = .018). Three patients underwent functional hemispherectomy with postsurgical stable motor function, all showing marked corticospinal tract asymmetry preoperatively. Following the DTI-based corticospinal tract trajectories allowed identifying the presumed primary motor region within the dysplastic cortex in 9/9 patients, confirmed by functional MR imaging in 3/3 cases.
CONCLUSIONS
Visual assessment of corticospinal tract asymmetry in unilateral polymicrogyria involving the motor cortex is most reliable with T1WI and color-coded DTI maps at the level of the midbrain. Pronounced asymmetry predicts preserved motor function after hemispherectomy. DTI-based tractography can be used as a guidance tool to the motor cortex within polymicrogyria.
Topics: Adult; Aged; Diffusion Tensor Imaging; Female; Humans; Male; Polymicrogyria; Pyramidal Tracts; Retrospective Studies
PubMed: 29954815
DOI: 10.3174/ajnr.A5715 -
Child's Nervous System : ChNS :... Jun 2012The aim of this study is to evaluate the correlation between clinical presentation and the extent of cortical involvement in patients with polymicrogyria.
AIM
The aim of this study is to evaluate the correlation between clinical presentation and the extent of cortical involvement in patients with polymicrogyria.
MATERIALS AND METHODS
The magnetic resonance imaging findings of 26 patients were evaluated for the location and distribution of polymicrogyria. Presence of asphyxia at birth and serological tests for TORCH infections, the presence and type (spastic, flaccid) of motor deficits, mental development,microcephaly, and epilepsy were noted.
RESULTS
Nineteen patients had bilateral, whereas seven had unilateral involvement. Patients with unilateral polymicrogyria presented later with milder symptoms. The most encountered symptom in patients with bilateral involvement was mental motor retardation (MMR) (89%) and speech problems (84%).The clinical presentations of patients with asphyxia and positive serological tests for cytomegalovirus (CMV) were worse.All patients with positive serological tests for CMV had bilateral involvement. The perisylvian region was affected in five(71%) patients with unilateral involvement. The most encountered presenting symptom in these patients was epilepsy. Cerebral palsy was seen in three (43%) of the patients, and all of them had left hemiparesis. Microcephaly, MMR, and speech delay were detected in one (14%) of the patients.
CONCLUSIONS
Late presenting epilepsy may be a predictor of aunilateral polymicrogyria and is associated with relatively good prognosis. CMV infection and the presence of asphyxia are predictors of worse prognosis.
Topics: Adolescent; Asphyxia Neonatorum; Cerebral Palsy; Child; Child, Preschool; Cytomegalovirus Infections; Developmental Disabilities; Epilepsy; Female; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Malformations of Cortical Development; Prognosis; Young Adult
PubMed: 22286201
DOI: 10.1007/s00381-012-1703-2 -
European Journal of Paediatric... 2002Central nervous system (CNS) dysfunction is a cardinal feature in 22q11 deletion. The underlying CNS abnormalities remain, however, unknown. We report unilateral...
Central nervous system (CNS) dysfunction is a cardinal feature in 22q11 deletion. The underlying CNS abnormalities remain, however, unknown. We report unilateral hemispheric polymicrogyria in a child with 22q11 deletion presenting with hemiplegia and cognitive and behavioural disorders. This observation widens the spectrum of brain malformations associated with this genetic defect. It further suggests a relationship between the 22q11 deletion and disorders of cerebral gyration. It would therefore be interesting to look for neuronal migration disorders in patients with 22q11 deletion presenting neurological signs, and on the other hand to screen for 22q11 deletion in patients with isolated neuronal migration disorders.
Topics: Brain; Brain Diseases; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 22; Electroencephalography; Genetic Markers; Humans; Magnetic Resonance Imaging; Male; Syndrome
PubMed: 11993959
DOI: 10.1053/ejpn.2001.0544