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Developmental Diseases of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
James H. Tonsgard, Nikolas Mata-Machado
A large number of defects in the formation of the cerebral hemispheres have been identified. These defects are organized according to the developmental processes involved: Disorders of prosencephalic or forebrain development, which are largely defects in cleavage: holoprosencephaly (HPE), agenesis of the corpus callosum, and septo-optic dysplasia (SOD).Disorders of neuronal proliferation: primary microcephaly (MCPH).Disorders of neuronal migration: periventricular heterotopia, lissencephaly 1, Aristaless-related homeobox (ARX) spectrum disorders, and subcortical band heterotopia.Disorders of cortical organization: polymicrogyria (PMG) and schizencephaly.
Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
The neuropathology is characterized in some patients by polymicrogyria, as well as patchy demyelination throughout the cerebral white matter [1]. Some have had only mild abnormalities in neuronal migration and heterotopias [11]; in others the cortex and neurons appeared normal [6, 38]. The olivary nuclei were normal in all. Cytoplasmic inclusions were seen, as in the adrenal, and were like those seen in X-linked ALD, as was perivascular accumulation of lymphocytes. Demyelination of a widespread sudanophilic leukodystrophy tends to be more extensive than in X-linked ALD. It includes the cerebellum and brainstem. Periventricular rarefactions and microcalcifications have been observed [3]. Abnormalities of the gray matter include neuronal loss and inclusions in cortical neurons. Ocular histopathology includes ganglion cell loss and retinitis pigmentosa-like changes [22].
Vascular tumours and congenital vascular malformations
Published in Ken Myers, Paul Hannah, Marcus Cremonese, Lourens Bester, Phil Bekhor, Attilio Cavezzi, Marianne de Maeseneer, Greg Goodman, David Jenkins, Herman Lee, Adrian Lim, David Mitchell, Nick Morrison, Andrew Nicolaides, Hugo Partsch, Tony Penington, Neil Piller, Stefania Roberts, Greg Seeley, Paul Thibault, Steve Yelland, Manual of Venous and Lymphatic Diseases, 2017
Ken Myers, Paul Hannah, Marcus Cremonese, Lourens Bester, Phil Bekhor, Attilio Cavezzi, Marianne de Maeseneer, Greg Goodman, David Jenkins, Herman Lee, Adrian Lim, David Mitchell, Nick Morrison, Andrew Nicolaides, Hugo Partsch, Tony Penington, Neil Piller, Stefania Roberts, Greg Seeley, Paul Thibault, Steve Yelland
Cutaneous and/or mucosal–. CM (‘port- wine’ stain)–. CM with bone and/or soft tissue overgrowth–. CM with CNS and/or ocular anomalies (Sturge-Weber syndrome)–. CM of CM-AVM–. CM of MICCAP (microcephaly-capillary malformation)–. CM of MCAP (megalencephaly-capillary malformation-polymicrogyria)
Comparison of Prenatal Ultrasound and Autopsy Findings of Fetuses Terminated in Second Trimester: A Five-Year Experience of a Tertiary Center
Published in Fetal and Pediatric Pathology, 2023
Ezgi Yılmazer Yonder, Murat Cagan, Ozgur Deren, Kadri Safak Gucer
In CNS pathologies, we found neural tube defects and hydrocephalus most frequently by US, while ACC was the most frequent autopsy finding. In the study conducted by Kaiser et al. in 2000, anencephaly and hydrocephalus were found most frequently, followed by neural tube defects [8]. Anencephaly was observed only in one case in our study, and prenatal diagnosis with typical US findings was compatible with the autopsy, as expected. In neural tube defect cases, US and autopsy were compatible in all but one fetus. ACC was not detected by US in 11 cases. In a study investigating CNS pathologies, four (3%) cases were reported that were not detected in US and found ACC in autopsy findings [9]. This discrepancy between prenatal US and autopsy findings may have resulted from the difficulty of detecting the presence of callosal abnormalities by US before the 18th gestational week [10]. Moutard et al. emphasized that ACC may cause symptoms such as seizure, EEG disorder, slow speech, mild cognitive deficit, and prenatal diagnosis was important in such cases [11]. The inconsistency in the findings of microcephaly and macrocephaly in 2 cases in our study did not change the clinical management and was considered a minor discrepancy. Since prenatal US may be limited to evaluating the fetal brain, fetal MRI is mostly used as a complementary tool in cases with suspected migration defects. Two cases in our series with polymicrogyria may not have been diagnosed antenatally due to the early gestational week and limitations of US.
Maternal Germline Mosaicism of a de Novo TUBB2B Mutation Leads to Complex Cortical Dysplasia in Two Siblings
Published in Fetal and Pediatric Pathology, 2022
Complex cortical dysplasia with other brain malformations-7 (a.k.a. polymicrogyria) is a clinically heterogeneous condition that begins before birth with abnormal development of the brain. In these patients, the brain folds are much smaller than usual. Part or all of the brain can be involved and clinical severity is directly proportional to the affected part of the brain [1]. Some prominent findings include microcephaly, limited extraocular movements, sialorrhea, oromotor dyspraxia, cortical malformations of the brain, contralateral hemiparesis, congenital seizures, delayed motor development, cognitive delay, learning difficulties, abnormalities of the corpus callosum, cerebellar hypoplasia, movement abnormalities, and brainstem abnormalities. Complex cortical dysplasia is an autosomal dominant or recessive polyphenotypic disorder and can be caused by mutations TUBA1A, TUBA8, TUBB2B, TUBB3, or TUBB5 [2]. These genes encode tubulin proteins, and several missense and nonsense mutations generally result in tubulinopathies [3]. The beta subunit of tubulin, encoded by the TUBB2B gene, plays a role in microtubular development [4]. Microtubules are important to bind and hydrolyze GTP which provides migration and differentiation of the neurons [5]. TUBB2B gene is highly expressed in the brain [6]. We present a Turkish family with complex cortical dysplasia with other brain malformations-7 (Phenotype MIM number: 610031) caused by a de novo TUBB2B mutation. While parents are healthy, the detection of the same mutation in the TUBB2B gene in both siblings suggest germline mosaicism in one of the parents.
The relevance of the cytogenetic analysis in syndromic microphthalmia/anophthalmia
Published in Ophthalmic Genetics, 2019
David Apam-Garduño, Vianney Cortés-González, Luis Quintana-Fernández, Daniel Martínez-Anaya, Patricia Pérez-Vera, Cristina Villanueva-Mendoza
OTX2-encoded protein acts as a transcription factor and plays a role in brain, craniofacial and sensory organ development. The phenotype of patients with microdeletions encompassing OTX2 includes M/A spectrum, brain malformations, deafness, anomalies of the extremities, cardiac malformations and urogenital abnormalities (OMIM: 610125) (2,8). The brain malformations described are hypoplasia or the absence of optic nerves and optic chiasm, pituitary abnormalities, ventricular dilatation, partial corpus callosum agenesis and reduced hemispheric white matter (8). Other features observed less frequently are hippocampal abnormal gyration, cerebellar hypoplasia and Chiari malformation (8,9). As far as we know, this is the first patient with perisylvian polymicrogyria; this cerebral dysgenesis is characterized by excessive cortical folds and shallow grooves. Perisylvian polymicrogyria manifests with epilepsy, variable developmental delay with language and food learning difficulties (19). This brain condition explains the neurologic status of the patient.