Overview
Polymicrogyria is a cortical malformation characterized by excessive folding of the cerebral cortex, leading to small gyri and fused surfaces, often associated with neurological deficits such as epilepsy, intellectual disability, and motor dysfunction. Genetic factors, including monogenic entities like ATP1A2 variants, play a significant role in its etiology 1.Diagnosis
Clinical Presentation: Neurological symptoms including developmental delay, epilepsy, motor dysfunction, and intellectual disability 12.
Imaging: MRI revealing diffuse or unilateral polymicrogyria with associated anomalies like meningeal arterial calcifications, basal ganglia changes, and pyramidal tract hypoplasia 1.
Genetic Testing: Exome sequencing to identify pathogenic variants, particularly ATP1A2 mutations in autosomal recessive cases 1.
Comprehensive Evaluation: Assess for associated syndromes or anomalies such as Adams-Oliver syndrome, congenital defects, or developmental disorders 34.Management
Symptomatic Treatment: Antiepileptic drugs for seizure control (specific drugs and doses not detailed in abstracts) 2.
Supportive Therapies: Early integrated approach including speech and language therapy, occupational therapy, and alternative communication methods to support cognitive and psychosocial development 2.
Multidisciplinary Care: Involvement of neurologists, developmental pediatricians, and therapists to address diverse needs 2.Special Populations
Pediatrics: Early identification and intervention crucial for developmental support; subtle symptoms like choking and drooling may precede overt developmental delays 2.
Comorbidities: Consider genetic syndromes like Adams-Oliver syndrome or Kabuki syndrome in cases with additional congenital anomalies 34.Key Recommendations
Genetic Testing for ATP1A2 Variants in suspected autosomal recessive polymicrogyria cases to guide diagnosis and genetic counseling (Evidence: Strong 1).
Early Integrated Therapeutic Interventions focusing on speech, language, and occupational therapy to support cognitive and motor development in pediatric patients (Evidence: Moderate 2).
Comprehensive Neurological and Developmental Assessments including imaging and genetic analysis to identify associated syndromes and anomalies (Evidence: Moderate 34).References
1 Chatron N, Cabet S, Alix E, Buenerd A, Cox P, Guibaud L et al.. A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants. Brain : a journal of neurology 2019. link
2 Takano T, Matsuwake K, Yoshioka S, Takeuchi Y. Congenital polymicrogyria including the perisylvian region in early childhood. Congenital anomalies 2010. link
3 Amor DJ, Leventer RJ, Hayllar S, Bankier A. Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome. American journal of medical genetics 2000. link93:4<328::aid-ajmg13>3.0.co;2-0)
4 Cohn RD, Gillessen-Kaesbach G, Dobyns WB, Kahn T, Lenard HG, Voit T. Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism. American journal of medical genetics 1996. link1096-8628(19960503)63:1<314::AID-AJMG52>3.0.CO;2-N)
5 Bisiach E, Brouchon M, Poncet M, Rusconi ML. Unilateral neglect in route description. Neuropsychologia 1993. link90072-8)
6 Bisiach E, Luzzatti C. Unilateral neglect of representational space. Cortex; a journal devoted to the study of the nervous system and behavior 1978. link80016-1)