Presentation
Our patient presented with intellectual disability and epilepsy without an evidence of spastic manifestations. PMG is usually isolated but can also be seen in association with other brain malformations. [eurorad.org]
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]
The other patient with bilateral frontal PMG presented seizures associated with photosensitivity and paroxysmal episodes of "alternating hemiplegia". [moh-it.pure.elsevier.com]
Entire Body System
- Asymptomatic
However, we believe that the frequency of epilepsy in patients with MCD is still underestimated, because almost asymptomatic patients with MCD cannot be identified as they do not seek medical help. [scielo.br]
Musculoskeletal
- Macrocephaly
[…] variable severity, seizures Rates of symptoms in PMG include 78% for epilepsy, 70% for global developmental delay, 51% for spasticity, 50% for microcephaly, 45% for dysmorphic features (e.g., abnormal facies or hand, feet, or digital anomalies), and 5% for macrocephaly [en.wikipedia.org]
Neurologic
- 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]
- 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]
Treatment
The first-line treatment for persons with seizures is anti-seizure medications, and the medication chosen depends on the type of seizures or epilepsy syndrome. [epilepsy.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. [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]
Recommended treatment of manifestations of PMG are: physical therapy, pharmacologic management, orthotic devices, and surgery for those with spastic motor impairment; speech therapy for language impairment; occupational therapy for fine motor difficulties [eurorad.org]
Prognosis
Treatment and prognosis No specific treatment of polymicrogyria per se is available. Treatment is symptomatic and particularly aimed at controlling epilepsy, a common sequela. [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]
Etiology
WDR62 and PIK3R2 Intrauterine cerebral injury, after approximately 20 weeks gestation, e.g. infection such as CMV, or hypoxia-ischemia Metabolic etiology e.g. peroxisomal disorders Bilateral perisylvian syndrome Bilateral perisylvian polymicrogyria can [epilepsydiagnosis.org]
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. Am J Med Genet A. 2006 Nov 15;140(22):2416-25. Citation on PubMed Stutterd CA, Dobyns WB, Jansen A, Mirzaa G, Leventer RJ. [medlineplus.gov]
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]
Epidemiology
[citation needed] Epidemiology[edit] The incidences of PMG and its different forms are unknown.[17] However, the frequency of cortical dysplasia in general has been estimated to be 1 in 2,500 newborns.[17] PMG is one of the best-known and most common [en.wikipedia.org]