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Bilateral frontal polymicrogyria

MedGen UID:
1754014
Concept ID:
C5437679
Congenital Abnormality
Synonym: bilateral frontal polymicrogyria
SNOMED CT: Bilateral frontal polymicrogyria (890285006)
 
Monarch Initiative: MONDO:0016162
Orphanet: ORPHA208444

Definition

Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBilateral frontal polymicrogyria

Professional guidelines

PubMed

Piao X, Chang BS, Bodell A, Woods K, Benzeev B, Topcu M, Guerrini R, Goldberg-Stern H, Sztriha L, Dobyns WB, Barkovich AJ, Walsh CA
Ann Neurol 2005 Nov;58(5):680-7. doi: 10.1002/ana.20616. PMID: 16240336

Recent clinical studies

Etiology

Barkovich AJ, Hevner R, Guerrini R
AJNR Am J Neuroradiol 1999 Nov-Dec;20(10):1814-21. PMID: 10588102Free PMC Article

Diagnosis

Piao X, Chang BS, Bodell A, Woods K, Benzeev B, Topcu M, Guerrini R, Goldberg-Stern H, Sztriha L, Dobyns WB, Barkovich AJ, Walsh CA
Ann Neurol 2005 Nov;58(5):680-7. doi: 10.1002/ana.20616. PMID: 16240336
Sztriha L, Nork M
Eur J Paediatr Neurol 2002;6(4):229-32. doi: 10.1053/ejpn.2002.0599. PMID: 12374591
Barkovich AJ, Hevner R, Guerrini R
AJNR Am J Neuroradiol 1999 Nov-Dec;20(10):1814-21. PMID: 10588102Free PMC Article

Therapy

Barkovich AJ, Hevner R, Guerrini R
AJNR Am J Neuroradiol 1999 Nov-Dec;20(10):1814-21. PMID: 10588102Free PMC Article

Clinical prediction guides

Tombini M, Marciani MG, Romigi A, Izzi F, Sperli F, Bozzao A, Floris R, De Simone R, Placidi F
J Neurol Sci 2003 Sep 15;213(1-2):83-6. doi: 10.1016/s0022-510x(03)00148-5. PMID: 12873759

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