Schizencephaly and the Neurodevelopmental Model of Psychosis

Schizencephaly is an uncommon anomaly in neuronal migration characterized by complete clefts that extend from the pia mater to the ependymal surface of the ventricular system. These clefts are encompassed by displaced gray matter and filled with cerebrospinal fluid. Typically, they are found most often in the frontal lobe or the area around the lateral sulcus and can occur on one or both sides. The size, location, and type of these clefts carry significant clinical and prognostic implications. Moreover, they are frequently associated with other central nervous system malformations, including the absence of the septum pellucidum, septo-optic dysplasia, optic nerve hypoplasia, pachygyria, polymicrogyria, cortical dysplasia, heterotopia, and dysplasia of the corpus callosum. Occurrence of schizencephaly is almost always sporadic but its etiopathogenesis is yet to be fully understood. Most likely environmental factors, including exposure to teratogens, viral infections, and maternal factors, operate jointly with genetic defects. To date COL4A1, EMX2, SHH, and SIX3 are the genes identified as possible pathogenetic target. It is interesting to notice that schizencephaly is commonly seen in abandoned or adopted children, as proof of causative effect of intrautero insults. Clinical presentations widely vary and symptoms include a spectrum of cognitive impairment, limb paresis/tetraparesis, and epileptic seizures either with early or late onset; anyway, none of these symptoms is ever-present and patients with schizencephaly can also have normal neurocognitive and motor development. Diagnostic gold standard for schizencephaly is magnetic resonance imaging, which allows to identify and characterize typical clefts. Treatment of schizencephaly is symptomatic and supportive and depends on the severity of morbidity resulting from the malformation. Therapy includes antiepileptic drugs, psychomotor rehabilitation, and in selected cases surgical approach.

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A Case Report of an Adolescent Girl with Schizencephaly and Psychosis: Causal or Co-incidental?

Veeraraghavan

2024

Journal of Indian Association for Child and Adolescent Mental H

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Schizencephaly is an uncommon congenital malformation of the central nervous system. It affects the development of the cerebral cortex. It is characterized by a gray matter–lined cleft filled with cerebrospinal fluid that extends from the pial surface to the ventricle. Types are open and closed lip. Etiology can be due to localized ischemia in periventricular germinal matrix, an extreme variant of cortical dysplasia, and autosomal recessive gene involvement. Age of detection ranges from 8 months to 30 years. Scientific literature regarding the association between schizencephaly and psychosis is scarce. Here, we present the first adolescent case in the literature of a 16-year-old female child with schizencephaly and psychosis.

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Schizencephaly and the Neurodevelopmental Model of Psychosis

Cited by 3 publications

References 11 publications

The Epidemiology of Congenital Brain Anomalies

The Epidemiology of Congenital Brain Anomalies

Schizencephaly: Etiopathogenesis, Classification, Therapeutic, and Rehabilitative Approach

A Case Report of an Adolescent Girl with Schizencephaly and Psychosis: Causal or Co-incidental?

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