The other patient with bilateral frontal PMG presented seizures associated with photosensitivity and paroxysmal episodes of "alternating hemiplegia". [moh-it.pure.elsevier.com]

ORPHA:101070 Synonym(s): - Prevalence: - Inheritance: - Age of onset: - ICD-10: Q04.3 OMIM: 606854 UMLS: C1847352 MeSH: - GARD: 10784 MedDRA: - The documents contained in this web site are presented for information purposes only. [orpha.net]

A history of febrile seizures was present in 11.5% of participants. Further details regarding epilepsy localization and seizure semiology are presented in Table 1. [ncbi.nlm.nih.gov]

This led to the identification of patients presenting with less severe symptoms than previously described. [scielo.br]

• Epilepsy

  There is a wide spectrum of clinical manifestation in patients with PMG, varying from severe encephalopathy, mental retardation and refractory epilepsy to selective cognitive impairment. [moh-it.pure.elsevier.com]

  It should be noted that, because MCD are frequently associated with refractory epilepsy, most data about epilepsy and MCD come from epilepsy centers. [scielo.br]

  We describe the clinical epilepsy and imaging features of a large cohort with PMG-related epilepsy. [ncbi.nlm.nih.gov]

  Treatment is symptomatic and particularly aimed at controlling epilepsy, a common sequela. Related Radiopaedia articles Promoted articles (advertising) [radiopaedia.org]

  […] polymicrogyria (BPP) – Pseudobulbar signs, cognitive impairment, epilepsy, some with arthrogryposis or lower motor neuron disease Bilateral parasagittal parieto-occipital polymicrogyria (BPPP) – Partial seizures, some with mental retardation Bilateral [en.wikipedia.org]

• Disability

  […] a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability [orpha.net]

  Others still are severely disabled 6. Thought to occur from a neuronal insult in late (after 20 weeks) gestation. There is abnormal arrangement and excessive folding of cerebral cortical cell layers. [radiopaedia.org]

  The first dysplastic lesions described were anatomopathological findings, and only severely disabled patients could be identified 3. With the improvement in neuroimaging techniques, smaller lesions have been described 4,5. [scielo.br]

  Polymicrogyria may be just one piece of a syndrome of developmental abnormalities, because children born with it may suffer from a wide spectrum of other problems, including global developmental disabilities, mild to severe mental retardation, motor dysfunctions [en.wikipedia.org]

• Developmental Delay

  Developmental delay prior to seizure onset was documented in four of the seven participants (57.1%). [ncbi.nlm.nih.gov]

  delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus. [orpha.net]

  West syndrome is characterized by infantile spasms, hypsarrhythmia and developmental delay, and is seen mainly from the fourth to the seventh months of life. [scielo.br]

  Few patients are candidates for surgery. [11] The global developmental delay that affects 94% can also be mitigated in some patients with occupational, physical, and speech therapies. [en.wikipedia.org]

• Developmental Disabilities

  Polymicrogyria may be just one piece of a syndrome of developmental abnormalities, because children born with it may suffer from a wide spectrum of other problems, including global developmental disabilities, mild to severe mental retardation, motor dysfunctions [en.wikipedia.org]

• Fishing

  For all patients we performed genetic exams (high resolution kariotype, GPR56, FISH 22q11), resulting negative in all patients. Our data confirm the large variability of clinical and EEG features in patients with similar cortical malformation. [moh-it.pure.elsevier.com]

  Raymond AA, Fish DR. EEG features of focal malformations of cortical development. J Clin Neurophysiol 1996;13:495-506. [ Links ] 21. Blume WT. Clinical profile of partial seizures beginning at less than four years of age. [scielo.br]

• Photosensitivity

  The other patient with bilateral frontal PMG presented seizures associated with photosensitivity and paroxysmal episodes of "alternating hemiplegia". [moh-it.pure.elsevier.com]

• Seizure

  The other patient with bilateral frontal PMG presented seizures associated with photosensitivity and paroxysmal episodes of "alternating hemiplegia". [moh-it.pure.elsevier.com]

  Median age of seizure onset was 3 years (range Significance Participants with PMG had both focal and generalized onset of seizures. [ncbi.nlm.nih.gov]

  Seizures and epileptic syndromes were classified according to the ILAE classification 14. Being seizure-free for at least one year was considered seizure control. [scielo.br]

  Most of the patients have cognitive and motor delay, spastic hemi- or quadriparesis, and seizures in varying degrees. The seizures also vary at age of onset, type, and severity. [en.wikipedia.org]

• Encephalopathy

  There is a wide spectrum of clinical manifestation in patients with PMG, varying from severe encephalopathy, mental retardation and refractory epilepsy to selective cognitive impairment. [moh-it.pure.elsevier.com]

  Estopia is also known as dysconjugate gaze, and is a common feature of severe static encephalopathy. This differentiates BFPP from the other bilatieral polymicrogyria syndromes. [en.wikipedia.org]

• Paresis

  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]

• Dysarthria

  "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, restricted tongue movement, and dysarthria [en.wikipedia.org]

• Focal Seizure

  The other case of bilateral perisylvian PMG had focal seizures without EEG abnormalities during sleep and awake. For all patients we performed genetic exams (high resolution kariotype, GPR56, FISH 22q11), resulting negative in all patients. [moh-it.pure.elsevier.com]

  Focal seizures with dyscognitive features predominated (n 7, 63.6%). Fewer participants had nonconvulsive focal seizures with unknown evolution (n 4, 36.4%) or focal seizures without dyscognitive features (n 3, 27.3.%). [ncbi.nlm.nih.gov]

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]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

There is no specific treatment to get rid of this condition, but there are medications that can control the symptoms such as seizures, delayed development or weakened muscles as some of the noted effects. [en.wikipedia.org]

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]

Though it is difficult to make a predictable prognosis for children with the diagnosis of PMG, there are some generalized clinical findings according to the areas of the brain that are affected. [en.wikipedia.org]

Malformations of cortical development (MCD) can be defined as derangements in the development of the neocortex associated with a range of morphologic features and with multiple putative etiologic factors, including genetic and environmental influences [scielo.br]

Individuals with PMG reported to have been caused by cytomegalovirus or other acquired etiologies were also excluded. [ncbi.nlm.nih.gov]