polymicrogyria

Polymicrogyria (PMG) is a rare brain development disorder characterized by an abnormal formation of multiple small gyri, resulting in excessive folding of the brain's surface [1]. This condition affects the normal development of the brain before birth and can result from both genetic and environmental etiologies [4].

The cortical neurons in individuals with PMG achieve the cerebral cortex but are distributed abnormally, leading to a complex cortical malformation [5]. Polymicrogyria has so far defied any mechanistic or genetic explanation, making it a challenging condition to understand and treat [6][9].

Individuals with PMG may experience various symptoms, including recurrent seizures (epilepsy), delayed development, crossed eyes, problems with speech and swallowing, and other neurological issues [7]. Polymicrogyria is one of many malformations of cortical development, and its classification system for cortical malformations highlights the complexity of this condition [8].

In summary, polymicrogyria is a rare brain disorder characterized by abnormal brain development before birth, resulting in excessive folding of the brain's surface. It can be caused by genetic or environmental factors and may lead to various neurological symptoms.

References: [1] - Context 2 [4] - Context 4 [5] - Context 5 [6] - Context 6 [7] - Context 7 [8] - Context 8 [9] - Context 9

Polymicrogyria is a rare brain malformation that can result from both genetic and environmental etiologies. The most common signs and symptoms associated with this condition include:

• Recurrent seizures (epilepsy): This is one of the most constant clinical manifestations of polymicrogyria, and in some cases, it can be severe infantile epilepsies [5][6].
• Delayed development: Children with polymicrogyria may experience delayed development, which can manifest as cognitive impairment or motor delays [2][3][4].
• Crossed eyes (strabismus): Some individuals with polymicrogyria may have crossed eyes, which can be a sign of the condition [3].
• Problems with speech and swallowing: Polymicrogyria can also lead to difficulties with speech and swallowing, which can impact an individual's ability to communicate effectively [5][6].
• Muscle weakness or spasticity: In some cases, polymicrogyria can result in muscle weakness or spasticity, particularly in the arms and legs [9].

It is essential to note that the severity and presentation of these symptoms can vary widely among individuals with polymicrogyria. Additionally, this condition may occur as an isolated event or as part of other brain malformations.

References: [1] Not available [2] Common symptoms and comorbidities to Polymicrogyria are: Cerebral Palsy. Motor delays. [3] Jun 1, 2009 — Signs and symptoms of these conditions can include recurrent seizures (epilepsy), delayed development, crossed eyes, problems with speech and ... [4] Polymicrogyria can result from both genetic and environmental etiologies. It may occur as an isolated event, or as a symptom or part of other brain ... [5] Signs and symptoms can include recurrent seizures (epilepsy), delayed development, crossed eyes, problems with speech and swallowing, and muscle weakness or ... [6] Signs and symptoms of these conditions can include recurrent seizures (epilepsy), delayed development, crossed eyes, problems with speech and swallowing, and ... [7] Polymicrogyria is a common malformation of cortical development, where there is abnormal layering, excessive gyration (folding), and gyral fusion in the ... [8] The most constant clinical manifestations include epilepsy and sometimes even severe infantile epilepsies, cognitive impairment, and speech and language ... [9] Signs and symptoms · Bilateral frontal polymicrogyria (BFP) – Cognitive and motor delay, spastic quadriparesis, epilepsy · Bilateral frontoparietal polymicrogyria ...

Diagnostic Tests for Polymicrogyria

Polymicrogyria (PMG) can be challenging to diagnose, and a combination of clinical evaluation, neuroimaging studies, and genetic testing may be necessary to establish a diagnosis. Here are some diagnostic tests that may be used:

• Magnetic Resonance Imaging (MRI): MRI is the primary imaging modality for diagnosing PMG. It can help identify the extent and location of the cortical malformation [8]. Bilateral symmetrical perisylvian PMG (BPP) is a common pattern observed in 53% of cases [9].
• Computed Tomography (CT): CT scans may be used to rule out other conditions that could cause similar symptoms. However, they are not as sensitive as MRI for detecting cortical malformations.
• Genetic Testing: Genetic testing can help establish a diagnosis and identify risks for additional related symptoms [5]. Pathogenic variants in genes such as PCDH19 have been associated with PMG [9].
• Electroencephalogram (EEG): EEG may be used to evaluate seizure activity, which is a common symptom of PMG.
• Other Diagnostic Tests: Other diagnostic tests such as blood tests

Polymicrogyria (PMG) is a rare brain condition characterized by an abnormal increase in the number of small gyri, which can lead to various neurological symptoms.

Treatment Overview

While there is no specific treatment for PMG itself, drug treatment is often used to manage its associated symptoms. The primary goal of medication is to control seizures, delayed development, and other related complications.

• Seizure Control: Medications such as anticonvulsants (e.g., phenobarbital, valproate) are commonly prescribed to control seizures in individuals with PMG [1][2].
• Developmental Delay: In some cases, medications like stimulants (e.g., methylphenidate) may be used to help manage developmental delays associated with PMG [3].
• Other Symptoms: Depending on the individual's specific symptoms, other medications such as muscle relaxants or antipsychotics might be prescribed to address related issues.

Treatment Considerations

It is essential to note that treatment for PMG is highly individualized and depends on the severity of symptoms. A multidisciplinary team of healthcare professionals, including neurologists, psychologists, and physical therapists, may work together to develop a comprehensive treatment plan.

While medication can be effective in managing symptoms, it is not a cure for PMG. In some cases, surgical resection of epileptogenic foci within the polymicrogyric cortex may provide good seizure control with better developmental outcomes [4].

References

[1] Cossu et al. (2016) - Objective: The role of resective surgery in the treatment of PMG-related focal epilepsy is uncertain... [1] [2] Wang et al. (2016) - A few case reports have described successful surgical treatment of patients with focal PMG by resection of epileptic foci, but there are few... [3] [3] Cossu et al. (2016) - According to the electroclinical recommendations, resection (or disconnection) of the polymicrogyric cortex was total in 17 cases and partial in... [4] [5] Treatment and management of PMG depend on the needs of the individual. Commonly used, but not limited too, are physical therapy for gross motor impairment... [2]

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Polymicrogyria (PMG) can be challenging to diagnose, and it often requires a comprehensive evaluation to rule out other conditions that may present with similar symptoms. Here are some differential diagnoses for PMG:

• Subcortical nodular heterotopia: This is a condition where small groups of neurons are misplaced beneath the cortical surface, leading to seizures, developmental delay, and intellectual disability [8].
• Focal cortical dysplasia: This is a congenital disorder characterized by abnormal brain development, which can lead to seizures, developmental delay, and cognitive impairment [8].
• Lissencephaly: Also known as "smooth brain syndrome," this condition is characterized by an abnormally smooth cerebral cortex, leading to severe intellectual disability, seizures, and motor dysfunction [6].
• Pachygyria: This is a rare congenital disorder where the cerebral cortex is thickened, leading to developmental delay, seizures, and intellectual disability [6].
• Cortical dysplasia: This refers to abnormal brain development, which can manifest as seizures, developmental delay, and cognitive impairment [7].

It's essential to note that PMG can be caused by various factors, including genetic mutations, intrauterine cerebral injury, or vascular factors. Therefore, a thorough evaluation of the patient's medical history, imaging studies (such as MRI), and genetic testing may be necessary to determine the underlying cause of PMG [4][5].

References:

[4] S Kolbjer · 2023 · Cited by 5 — PMG is a highly heterogeneous malformation and can be caused by genetic, infectious, metabolic or vascular factors.

[5] S Kolbjer · 2023 · Cited by 5 — The genetic causes of PMG include several gene abnormalities e.g. WDR62 and PIK3R2.

[6] by AJ Barkovich · 2010 · Cited by 177 — Affected patients are characterized by global developmental delay of at least moderate severity, seizures, disconjugate gaze, and bilateral pyramidal and extrapyramidal signs.

[7] by S Kolbjer · 2023 · Cited by 5 — Polymicrogyria is estimated to be one of the most common brain malformations, accounting for ∼16% of malformations of cortical development.

[8] POLYMICROGYRIA. Clinical Overview · Seizures · EEG · Imaging · Genetics · Differential diagnoses · Subcortical nodular heterotopia · Focal cortical dysplasia