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      Neuropsychiatric symptoms and diagnosis of grey matter heterotopia: A case-based reflection

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          Neuropsychiatric symptoms can be related to less common underlying neuropsychiatric conditions – in this case report, the condition discussed is that of grey matter heterotopia (GMH). The patient presented with a history of prominent aggression, impulsivity and manipulative and attention-seeking behaviour. Episodes of depression and incidents of deliberate self-harm and suicide attempts had been reported. Neuropsychiatric symptoms included anxiety, a labile mood, delusional thinking and auditory hallucinations. Testing revealed some cognitive difficulties and severe impairment of frontal lobe functions. A magnetic resonance imaging (MRI) scan of his brain revealed the presence of GMH, which had previously been misdiagnosed as tuberous sclerosis. An MRI scan of the brain is the special investigation of choice for the correct diagnosis of GMH. The pathognomonic finding is that of heterotopic grey matter abnormally located within areas of white matter. Defective foetal neuronal migration between the third and fifth month of pregnancy can lead to GMH, which can present later on in childhood or adolescence with epilepsy, intellectual impairment or reading difficulties. During the late teenage years or early adulthood, a wide variety of neuropsychiatric symptoms may be present, which can lead to diagnostic difficulties.

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          Most cited references 18

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          Diagnostic and Statistical Manual of Mental Disorders, 5th ed.

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            Gray matter heterotopia.

            Gray matter heterotopia are common malformations of cortical development. From a clinical perspective, affected patients are best divided into three groups: subependymal, subcortical, and band heterotopia (also called double cortex). Symptomatic women with subependymal heterotopia typically present with partial epilepsy during the second decade of life; development and neurologic examinations up to that point are typically normal. Symptoms in men with subependymal heterotopia vary, depending on whether they have the X-linked or autosomal form. Men with the X-linked form more commonly have associated CNS and visceral anomalies; their development is typically abnormal. Symptomatic men with the autosomal variety have clinical courses similar to symptomatic women. Both men and women with subcortical heterotopia typically have congenital fixed neurologic deficits and develop partial epilepsy during the second half of the first decade of life. The more extensive the subcortical heterotopia, the greater the deficit; bilateral heterotopia are almost invariably associated with severe developmental delay or mental retardation. In general, band heterotopia are seen exclusively in women; men with a mutation of the related gene (called XLIS or DCX) usually die in utero or have a much more severe brain anomaly. Symptoms in affected women vary from normal to severe developmental delay or mental retardation; the severity of the syndrome is related to the thickness of the band of arrested neurons. Nearly all affected patients that come to medical attention have epilepsy, with partial complex and atypical absence epilepsy being the most common syndromes. Some of the more severely affected patients develop attacks.
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              Mental Health Care Act, No. 17 of 2002


                Author and article information

                S Afr J Psychiatr
                S Afr J Psychiatr
                The South African Journal of Psychiatry : SAJP : the Journal of the Society of Psychiatrists of South Africa
                28 March 2017
                : 23
                [1 ]Department of Psychiatry, Faculty of Health Sciences, University of Pretoria, South Africa
                [2 ]Forensic Unit, Weskoppies Hospital, South Africa
                Author notes
                Corresponding author: Gian Lippi, gian.lippi@
                © 2017. The Authors

                Licensee: AOSIS. This work is licensed under the Creative Commons Attribution License.

                Original Research


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