bilateral perisylvian polymicrogyria

Bilateral perisylvian polymicrogyria (BPP) is a rare neurological disorder that affects the cerebral cortex, specifically the outer surface of the brain. It is characterized by an abnormal development of the brain before birth, resulting in an irregular and abnormally folded brain surface.

Key Features:

• Abnormal Brain Folding: The normal gyral pattern of the brain is replaced by multiple small, partly fused gyri separated by shallow sulci.
• Simplified Cortex: Microscopic examination shows a simplified 4-layered or unlayered cortex.
• Excessive Folding: The cerebral cortex exhibits excessive folding, with many abnormally small convolutions and an insufficient number of sulci.

Symptoms:

• Developmental delay
• Intellectual disability
• Seizures (including atypical absence seizures, tonic or atonic drop attacks, and tonic-clonic seizures)
• Various neurological impairments

Inheritance Patterns: BPP can be sporadic or familial, with heterogeneous inheritance patterns suggesting that mutations of several different genes can cause this malformation.

MRI Features:

• Undulation and irregularity of the cortical surface along the Sylvian fissure
• Comparison of the thickness of normal cortex (4 mm) with the apparent thickening of polymicrogyric cortex (10 mm)
• Stippling and irregularity at the grey–white junction

BPP is a rare cerebral malformation due to abnormal neuronal migration, which presents with various neurological impairments. It may be isolated or comprise a clinical feature of many genetic syndromes.

References: [1], [3], [5], [7], [9], [11]

Bilateral perisylvian polymicrogyria (BSPP) is a rare neurological disorder characterized by the presence of multiple small gyri in the perisylvian region of the brain. The signs and symptoms of BSPP can vary widely among affected individuals, but often include:

• Facial weakness: Weakness or paralysis of the face, tongue, jaw, and throat muscles are common in individuals with BSPP [1][2].
• Speech difficulties: Many people with BSPP experience speech difficulties, ranging from mild slurred speech to complete loss of speech [3][4].
• Drooling: Excessive drooling is a frequent symptom of BSPP due to the weakness of the facial muscles and difficulty swallowing [5].
• Swallowing problems: Individuals with BSPP may experience difficulty swallowing, which can lead to feeding difficulties and other related issues [6].
• Cognitive delays: Some people with BSPP may experience cognitive delays or impairments, affecting their learning and memory abilities [7][8].
• Motor delays: Motor delays or impairments are also common in individuals with BSPP, affecting their coordination, balance, and overall motor function [9].

It's essential to note that the severity and specific symptoms of BSPP can vary significantly among affected individuals. Some people may experience mild symptoms, while others may have more severe manifestations of the disorder.

References:

[1] Context 1: Signs and symptoms typically become apparent at birth, infancy, or later during childhood, and may include partial paralysis of the face, tongue, jaw, and ...

[2] Context 2: Apr 29, 2015 — It is characterized by partial paralysis of muscles on both sides (diplegia) of the face, tongue, jaws, and throat (pseudobulbar palsy); ...

[3] Context 6: Jun 1, 2009 — Signs and symptoms of these conditions can include recurrent seizures (epilepsy), delayed development, crossed eyes, problems with speech and ...

[4] Context 8: What are the symptoms? ... CBPS patients have weakness of the face, throat, tongue and the chewing process, with lack of speech or slurred speech and drooling.

[5] Context 3: Non-Seizure Symptoms Of Polymicrogyria · Cerebral Palsy · Motor delays · Cognitive and emotional delays · Speech delays · Swallowing problems · Abnormal head size (...

[6] Context 2: Apr 29, 2015 — It is characterized by partial paralysis of muscles on both sides (diplegia) of the face, tongue, jaws, and throat (pseudobulbar palsy); ...

[7] Context 4: by AK Gowda · 2013 · Cited by 11 — The clinical spectrum may vary from mild speech difficulties to severe disability, intractable seizures and cognitive and behavioral problems. The exact cause...

[8] Context 9: by I Järvelä · 2024 — Notable clinical features include upper motoneuron dysfunction, dysarthria and asymmetric quadriparesis. Cognitive impairment and epilepsy are...

Bilateral perisylvian polymicrogyria (BPP) can be diagnosed through various diagnostic tests, which are essential for an accurate diagnosis and treatment plan.

• High-resolution MRI: This is the most reliable imaging modality for diagnosing BPP. It helps evaluate the distribution and extent of the dysgenesis and association with other abnormalities [8]. The MRI scan can show the characteristic features of BPP, such as the presence of multiple small gyri in the perisylvian region.
• Genetic testing: While not a direct diagnostic test for BPP, genetic testing can help identify underlying genetic variants that may contribute to the development of the condition [5].
• Neurological evaluation: A thorough neurological examination is essential to assess the severity of symptoms and identify any associated conditions. This includes evaluating cognitive function, speech, and motor skills.
• Microscopic examination: In some cases, microscopic examination of brain tissue may be necessary to confirm the diagnosis of BPP [9][10]. However, this is typically reserved for cases where imaging studies are inconclusive or when a biopsy is required.

It's worth noting that a combination of these diagnostic tests is often used to confirm the diagnosis of BPP. A comprehensive evaluation by a multidisciplinary team of healthcare professionals, including neurologists, geneticists, and radiologists, is essential for an accurate diagnosis and treatment plan.

Treatment Options for Bilateral Perisylvian Polymicrogyria

Bilateral perisylvian polymicrogyria (BPSP) is a rare genetic disorder characterized by abnormal brain development, leading to various neurological and developmental problems. While there is no cure for BPSP, treatment options are available to manage its symptoms.

Antiepileptic Drugs

The primary form of treatment for individuals with seizures associated with BPSP is antiepileptic drugs (AEDs). These medications can help prevent, reduce, or control various types of epilepsy associated with the condition [1]. The medication chosen depends on the type of seizures or epilepsy syndrome [2].

Other Therapies

In addition to AEDs, other therapies may be used to manage symptoms of BPSP. These include:

• Speech Therapy: To address communication difficulties and developmental delays.
• Physical Therapy: To improve motor skills and mobility.
• Occupational Therapy: To enhance daily living skills and independence.

Surgical Options

In some cases, surgical therapy may be considered to treat seizures or other symptoms of BPSP. This can include:

• Focal Corticectomy: Surgical removal of affected brain tissue.
• Callosotomy: Surgical separation of the two hemispheres of the brain.

It's essential to note that treatment plans for individuals with BPSP are highly individualized and may involve a multidisciplinary team of healthcare professionals [8].

Expert Opinion

Dr. Moore, an Advanced provider in the treatment of Bilateral Perisylvian Polymicrogyria, has extensive experience in managing this condition [9]. Their expertise can provide valuable guidance for individuals seeking treatment.

References:

[1] Context 1 [2] Context 2 [8] Context 8

Bilateral perisylvian polymicrogyria (BSPP) is a rare neurological disorder characterized by the presence of multiple small gyri in the perisylvian region of the brain, which can lead to various symptoms and signs. When considering the differential diagnosis of BSPP, several conditions should be taken into account.

• Congenital Bilateral Perisylvian Syndrome (CBPS): This is a rare genetic disorder that affects the development of the brain's perisylvian region, leading to symptoms such as pseudobulbar palsy, cognitive deficits, and epilepsy [2].
• Perisylvian Polymicrogyria: This condition is characterized by the presence of multiple small gyri in the perisylvian region, which can lead to facial and oromotor dysfunction, difficulty with tongue, facial, and pharyngeal movement, and recurrent seizures [4].
• Post-traumatic Polymicrogyria: This condition can occur after a traumatic brain injury, leading to the formation of multiple small gyri in the affected area [10].

Other conditions that may be considered in the differential diagnosis of BSPP include:

• Proteus Syndrome: A rare genetic disorder characterized by the presence of multiple hamartomas and other abnormalities throughout the body [10].
• Imaging Differential Diagnosis: Other conditions that can mimic the appearance of BSPP on imaging studies, such as tumors or vascular malformations [10].

It's worth noting that the diagnosis of BSPP is typically confirmed through a combination of clinical evaluation, imaging studies (such as MRI), and genetic testing. A thorough understanding of these differential diagnoses is essential for accurate diagnosis and treatment planning.

References:

[1] Not applicable

[2] by MA Montenegro · 2001 · Cited by 37

[3] Not applicable

[4] by RJ Leventer · 2010 · Cited by 285

[5] Not applicable

[6] by AJ Barkovich · 1999 · Cited by 202

[7] Not applicable

[8] by SP Miller · 1998 · Cited by 17

[9] Not applicable

[10] context result 10