The signs and symptoms of polymicrogyria are variable; they depend on the degree and location of polymicrogyria. Infants with bilateral polymicrogyria have more severe symptoms compared to those that have unilateral involvement. Patients with generalized bilateral polymicrogyria present with various neurologic findings such as cognitive impairment, motor delay, refractory seizures, and/or quadriparesis [1] [2] [3] [4]. Polymicrogyria has been associated with malformations such as schizencephaly, cerebellar hypoplasia [5], subcortical heterotopia [6], and periventricular nodular heterotopia [7].

While the symptoms of polymicrogyria vary, there are common clinical presentations based on the region of the brain affected. For example, patients with bilateral polymicrogyria of the frontal cortex often present with cognitive impairment, motor delay, epilepsy, and/or quadriparesis. Bilateral polymicrogyria of frontoparietal cortex results in significant cognitive impairment and motor delay, seizures, cerebellar problems, and/or dysconjugate gaze. Patients with bilateral perisylvian polymicrogyria present with cognitive impairment, epilepsy, pseudobulbar signs, arthrogryposis, and/or lower motor neuron disease. Bilateral polymicrogyria of the parasagittal parieto-occiptal region is associated with mental retardation and/or partial seizures.

• Epilepsy

  Wiley Periodicals, Inc. © 2013 International League Against Epilepsy. KEYWORDS: Epilepsy; Epilepsy Phenome/Genome Project; Perisylvian; Polymicrogyria [ncbi.nlm.nih.gov]

• Disability

  Polymicrogyria is frequently associated with severe neurologic deficits including intellectual disability, motor problems, and epilepsy. [ncbi.nlm.nih.gov]

  It is also a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. [cmcdfoundation.org]

• Pain

  Advanced Search: • Use “ “ for phrases o [ “pediatric abdominal pain” ] • Use – to remove results with certain terms o [ “abdominal pain” –pediatric ] • Use OR to account for alternate terms o [teenager OR adolescent ] [merckmanuals.com]

  We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: May 13, 2019 [patientslikeme.com]

  62 Turan D...Aksaray S 35960240 2022 36 Perspectives of older Tamil immigrants on social inclusion: A concept mapping study in Canada. 62 Ahmad F...Othman N 34431583 2022 37 Effectiveness of Cognitive Restructuring on Intensity of Pain in Cancer Patients [malacards.org]

  […] being Polimicrogiria bilateral perisilviana General population 71.14 HIV 62.98 Hip replacement 60.11 Lung cancer 60.03 Social functioning Polimicrogiria bilateral perisilviana General population 89.47 HIV 72.81 Hip replacement 55.21 Lung cancer 68.70 Pain [diseasemaps.org]

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• Developmental Disorder

  Our results indicate that the presence of perisylvian polymicrogyria may not always result in the development of oropharyngoglossal dysfunction or dysarthria, although most patients tend to gradually show the onset of developmental disorders. [ncbi.nlm.nih.gov]

  During the condition patients presented with epilepsy (61.7%), infantile cerebral palsy (47%), psychomotor/mental retardation (94.1%), pervasive developmental disorder (26.4%), behavioural disturbances (38.2%), neurosensory deficit (35.2%) and microcephaly [dialnet.unirioja.es]

  His school performance was normal, and he has not shown any developmental abnormalities and pseudobulbar disorders. [intechopen.com]

  Developmental language disorder associated with polymicrogyria. Neurology 2002 ; 59 : 245 –50. ↵ Miller SP, Shevell M, Rosenblatt B, Silver K, O’Gorman A, Andermann F. [doi.org]

• Short Stature

  We present a seven-month old boy with microcephaly, short stature and developmental delay. A cerebral MRI showed slightly enlarged ventricles and symmetrical perisylvian polymicrogyria. [ncbi.nlm.nih.gov]

  Weill-Marchesani syndrome More Details is a rare connective tissue disorder either as autosomal dominant or recessive with short stature, brachydactyly, and EL. [9] Very few cases of autosomal recessive EL with hereditary chorioretinal disorders have [annalsofian.org]

• Dysphagia

  […] severity, vary from person to person but may include: Partial paralysis of muscles on both sides of the face, tongue, jaw, and throat Sudden, involuntary spasms of facial muscles Excessive drooling Difficulty with sucking, chewing, and/or swallowing (dysphagia [rareguru.com]

  Impaired control of these muscles may cause difficulty chewing (mastication), swallowing (dysphagia), and/or pronouncing certain sounds and words (dysarthria). In some cases, affected individuals may be unable to speak. [rarediseases.org]

  People with MPPH syndrome also have difficulty coordinating movements of the mouth and tongue (known as oromotor dysfunction), which leads to drooling, difficulty swallowing (dysphagia), and a delay in the production of speech (expressive language). [medlineplus.gov]

  Other criteria (< 50% of the cases) for diagnosis are arthrogryposis multiplex, other limb malformations and infantile spasms In our case the patient had all the features except dysphagia, absent gag reflex and arthrogryposis. [ijri.org]

  Bilateral perisylvian polymicrogyria (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy with difficulties in speaking (dysarthria), chewing (mastication), and swallowing (dysphagia [japi.org]

• Failure to Thrive

  No organomegaly was present, but there was generalized hypotonia, joint and skin laxity, developmental delay and failure to thrive. At 6 months of age the patient developed infantile spasms that were resistant to antiepileptic polytherapy. [ncbi.nlm.nih.gov]

• Hypertension

  She had evidence of portal hypertension (ascites, splenomegaly, hypersplenism) and MRI features of hepatic encephalopathy (HE) (manganese deposition suggested by bilateral symmetric high signal intensity at the globus pallidus). [japi.org]

  Kinani S...Bouchonnet S 36288103 2022 30 Clinical characteristics of children and guardians possessing CBP-positive Streptococcus mutans strains: a cross-sectional study. 62 Otsugu M...Nakano K 36266432 2022 31 Study of central aortic blood pressure in hypertensive [malacards.org]

  Obesity can also be associated with hypertension and the potential for skin breakdown. For these reasons, weight should be monitored regularly. If nutritional needs cannot be met with oral feedings, a gastrostomy tube may be recommended. [medigoo.com]

• Hypotension

  Therefore, it is tempting to attribute all of the bilateral polymicrogyrias to intrauterine hypotension or vascular occlusions (arteries or veins). [ajnr.org]

  低血圧症 5 Hypotensive crisis 低血圧性クリーゼ 5 Hypothenar hammer syndrome 下腿骨ハンマー症候群 5 Hypothyroidism 甲状腺機能低下症 5 Hypoxia 低酸素症 5 Idiopathic CD4 lymphocytopenia 特発性CD4リンパ球減少症 5 Idiopathic generalised epilepsy 特発性全般化てんかん 5 Idiopathic interstitial pneumonia 特発性間質性肺炎 [ikenori.com]

• Hearing Impairment

  WDS should be considered in children with cerebral palsy if mild motor delay with predominant expressive language delay without hearing impairment and autistic features. [pediatricneurosciences.com]

• Strabismus

  Copyright © 2016 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved. [ncbi.nlm.nih.gov]

  Signs and symptoms typically include moderate to severe intellectual disability, developmental delay, seizures, cerebellar ataxia, strabismus, and dysconjugate gaze (eyes that are not aligned). [rareguru.com]

• Seizure

  Clinical Presentation Faciopharyngoglossomasticatory diplegia, developmental delay, seizure, hemiparesis. Onset and severity of seizures relates to extent of malformation. [neuroradiologycases.com]

  Eight patients underwent seizure foci resection and four underwent hemispherectomy. Mean follow-up was 7 years (ranging from one to 19 years). Six patients (50%) were seizure-free at last follow-up. One patient had rare seizures (Engel class II). [ncbi.nlm.nih.gov]

• Dysarthria

  Our results indicate that the presence of perisylvian polymicrogyria may not always result in the development of oropharyngoglossal dysfunction or dysarthria, although most patients tend to gradually show the onset of developmental disorders. [ncbi.nlm.nih.gov]

  MSSP patients have moderate to severe mental retardation, poor speech, dysarthria and seizures. [uniprot.org]

  There was a history of dysarthria and drooling of saliva. [neurologyindia.com]

  He had an IQ of 80 and his examination was notable for spastic dysarthria and subtle bipyramidal signs. His MRI showed bilateral perisylvian polymicrogyria (BPP) and EEG showed bilateral centroparietal IEDs [ 1, 2 ]. [omicsonline.org]

  There was dysarthria and drooling of saliva. On examination there were exaggerated deep tendon reflexes with extensor plantars. The patient was on anti epileptics since 1994. [ijri.org]

• Generalized Tonic-Clonic Seizure

  A female infant developed epilepsy on the day of birth, exhibiting epileptic spasms, generalized tonic-clonic seizures, and eye-deviating seizures. She had a history of clusters of tonic seizures. [ncbi.nlm.nih.gov]

  During her follow‐up without treatment during the second year, she had new onset generalized tonic–clonic seizures during sleep. These seizures occurred four times a week. Her neurological examination was normal except for perioral dyskinesia. [onlinelibrary.wiley.com]

  Seizures were present in 27 of 31 patients (87%) and usually began between the ages of 4 and 12 years; they commonly consisted of atypical absence, atonic/tonic, and generalized tonic-clonic seizures. Partial attacks were present in 26%. [mayoclinic.pure.elsevier.com]

  A 15-Year-old girl presented with generalized tonic clonic seizures off and on since 1994. Born of a normal delivery in 1989 she had bilateral club feet with spastic paraplegia at birth. [ijri.org]

• Paresis

  Suprabulbar paresis. Congenital suprabulbar paresis and its differential diagnosis, with special reference to acquired suprabulbar paresis. Dev Med Clin Neurol 1974; 30: 1–30. Mariani C, Spinnler H, Sterzi R, Vallar G. [cmj.cumhuriyet.edu.tr]

  Keywords: Cerebral palsy, congenital supra-bulbar paresis, drooling, epilepsy, expressive speech delay, pseudobulbar, Worster–Drought syndrome Worster Drought Syndrome (WDS) was first described by Worster Drought in 1956 as congenital supra-bulbar paresis [pediatricneurosciences.com]

  Clinical manifestations included developmental delay in 7; poor palatal function in 5; hypotonia in 4; arthrogryposis in 4; hemiparesis in 3; apnea in 3; para-paresis in 2; micrognathia in 2; pectus excavatum in 2; quadriparesis in 1; and hearing loss [thieme-connect.com]

  […] perisylvian polymicrogyria, is a developmental neurological disorder characterised by homogeneous clinico-radiological findings with the underlying abnormality being polymicrogyria.[1],[2],[3] Clinically, the patients present primarily with pseudobulbar paresis [neurologyindia.com]

  The clinical characterizations of BPP "include pseudobulbar palsy with diplegia of the facial, pharyngeal and masticory muscles (facio-pharyngo-glosso-masticatory paresis), pyramidal signs, and seizures." [1] These can result in drooling, feeding issues [en.wikipedia.org]

• Neurologic Manifestation

  BACKGROUND: Several forms of ichthyosis are associated with neurologic manifestations, including Sjögren-Larsson syndrome, Refsum disease, and mental retardation-enteropathy-deafness-neuropathy-ichthyosis-keratoderma (MEDNIK) syndrome. [ncbi.nlm.nih.gov]

  Polymicrogyria is characterized by stable neurologic deficits, i.e., a “static encephalopathy.” The mildest form, unilateral focal polymicrogyria, may have minimal neurologic manifestations. [pediatricfocus.wordpress.com]

  Sporadic cases tend to present with more severe neurologic manifestations. [doi.org]

  The mildest form, unilateral focal polymicrogyria, may have minimal neurologic manifestations. In more severe forms, focal, motor, sensory, visual, or cognitive problems may be present, depending on the brain region affected. [blueprintgenetics.com]

Work up for polymicrogyria consists of a physical exam, a thorough medical history (including maternal pregnancy history and family history), and imaging tests. Congenital infections have been associated with polymicrogyria; the toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and a TORCH screen may be performed for detection of human immunodeficiency virus (HIV) if clinically indicated.

Genetic testing for mutations can be performed. For example, BICD2 has been associated with perisylvian polymicrogyria [8]. Screening for syndromes commonly associated with polymicrogyria, can be useful for determining etiology. Polymicrogyria is often an isolated condition, however, it can occur as a part of genetic syndromes such as 22q11.2 deletion syndrome, Aicardi syndrome, Adams-Oliver syndrome, Chudley-McCullough syndrome, Zellweger spectrum disorder, Galloway-Mowat syndrome, and Joubert syndrome [9].

Magnetic resonance imaging (MRI) is used to diagnose polymicrogyria [10]. MRI images will show abnormalities of the surface of the cortex and the gray-white matter junction [11]. In patients with polymicrogyria, the cortical surface will show a thickened appearance due to the fused and infolded gyri. Other imaging modalities such as computed tomography (CT) do not have sufficient resolution or contrast to show the small gyri characteristic of polymicrogyria.

Brain tissue can be examined at the time of autopsy or during neurosurgery. Gross examination of the cerebral cortex shows an abnormal brain surface consisting of complex convolutions with miniature, fused, superimposed folds and the pia meningeal layer extending across multiple folds [12]. Microscopic examination reveals an unusually thin cerebral cortex with abnormal lamination.

OBJECTIVE: The role of resective surgery in the treatment of polymicrogyria (PMG)-related focal epilepsy is uncertain. [ncbi.nlm.nih.gov]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Treatment Medical management of seizures and supportive care. Reference: Diagnostic Imaging Osborn. [neuroradiologycases.com]

What is the treatment? There is no cure for Microcephaly. [chiarasjourney.com]

Treatment and prognosis No specific treatment of polymicrogyria per se is available. Treatment is symptomatic and particularly aimed at controlling epilepsy, a common sequela. Related Radiopaedia articles Promoted articles (advertising) [radiopaedia.org]

CONCLUSIONS: Late presenting epilepsy may be a predictor of aunilateral polymicrogyria and is associated with relatively good prognosis. CMV infection and the presence of asphyxia are predictors of worse prognosis. [ncbi.nlm.nih.gov]

CONCLUSION--Similar brain malformations occasionally reported in older patients confirm the clinical picture, sporadic occurrence, and prognosis found, allowing the validation of a unilateral perisylvian syndrome. [jnnp.bmj.com]

Congenital bilateral perisylvian syndrome (CBPS): Do concomitant oesophageal malformations indicate a poor prognosis? Neuropediatrics 2000; 31: 310–3. Yekeler E, Ozmen M, Genchellac H, Dursun M, Acunas G. [cmj.cumhuriyet.edu.tr]

Classification: Several types with various manifestations and etiologies have been noted. [medlink.com]

It is a highly heterogeneous malformation with variable clinical and imaging features, pathological findings, and etiologies. [ncbi.nlm.nih.gov]

It may be associated with a genetic etiology, or may be due to exogenic causes such as infection, or impaired hemodynamic disturbances. [dnatesting.uchicago.edu]

Intrauterine infection, ischemia, toxins or gene mutations are known etiology. [neuroradiologycases.com]

López Pino Localización: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), ISSN 1695-4033, ISSN-e 1696-4608, Vol. 75, Nº. 6, 2011, págs. 358-364 Idioma: español Títulos paralelos: Polymicrogyria: epidemiology, neurological [dialnet.unirioja.es]

Epidemiology Currently the prevalence is unknown. Researchers believe that, although polymicrogyria in all its forms is a fairly common brain malformation, each individual disorder is rare in the population. [lifepersona.com]

View Article PubMed Google Scholar Kenneson A, Cannon MJ: Review and meta-analysis of the epidemiology of congenital cytomegalovirus (CMV) infection. Rev Med Virol 2007, 17: 253–276. [doi.org]

The pathophysiological bases are heterogeneous and include extrinsic factors and genetic causes. [ncbi.nlm.nih.gov]

It appears that intrauterine infection by cigomegalovirus (CMV) could be the basis of a significant percentage of them; In addition, in the last years, a great number of genes that could be involved in the pathophysiology of this type of cerebral malformations [lifepersona.com]

View Article PubMed PubMed Central Google Scholar Comi AM: Pathophysiology of Sturge-Weber syndrome. J Child Neurol 2003, 18: 509–516. [doi.org]

This situation suggests a need for more education regarding CMV modes of transmission and prevention on early prenatal visits. [ashg.org]

The ankle-foot orthotic can also be used to prevent further deformity of the joint. [medigoo.com]

Prevention Prevention is paramount and for this it is appropriate that parents be educated about common seizure presentations. [lifepersona.com]

Treatment with anticonvulsant drugs may help prevent, reduce, or control various types of epilepsy associated with CBPS. [rarediseases.org]

Mutations in the AKT3, CCND2, or PIK3R2 gene increase the activity of their respective proteins or prevent the proteins from being broken down when they should. [medlineplus.gov]

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2. Dobyns WB, Mirzaa G, Christian SL, et al. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2. Am J Med Genet Part A. 2008;146A:1637–1654.
3. Guerrini R, Dravet C, Raybaud C, et al. Epilepsy and focal gyral anomalies detected by MRI: electroclinico-morphological correlations and follow-up. Dev Med Child Neurol. 1992;34:706–18.
4. Barkovich AJ, Kjos BO. Non-lissencephalic cortical dysplasia: correlation of imaging findings with clinical deficits. AJNR Am J Neuroradiol. 1992;13:95–103.
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6. Barkovich AJ. Morphology of subcortical heterotopia: a magnetic resonance study. AJNR Am J Neuroradiol. 2000;21:290–295.
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8. Ravenscroft G, Di Donato N, Hahn G, et al. Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. Neuromuscul Disord. 2016;26:744-8.
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11. Raybaud C, Girard N, Canto-Moreira N, Poncet M. High-definition magnetic resonance imaging identification of cortical dysplasias: micropolygyria versus lissencephaly. In: Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin BG, Pfanner P, eds. Dysplasias of Cerebral Cortex and Epilepsy. Philadelphia, PA: Lippincott-Raven; 1996:131-44.
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