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Occipital pachygyria and polymicrogyria(OCCM)

MedGen UID:: 481505
•Concept ID:: C3279875
•: Disease or Syndrome

Synonym:	Cortical malformations, occipital
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	LAMC3 (9q34.12)

Monarch Initiative:	MONDO:0013583
OMIM®:	614115
Orphanet:	ORPHA280640

Definition

Occipital cortical malformations (OCCM) is an autosomal recessive condition in which affected individuals develop seizures, sometimes associated with transient visual changes. Brain MRI shows both pachygyria and polymicrogyria restricted to the lateral occipital lobes (summary by Barak et al., 2011). [from OMIM]

Clinical features

From HPO

EEG abnormality

MedGen UID:: 56235
•Concept ID:: C0151611
•: Finding

Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.

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Polymicrogyria

MedGen UID:: 78605
•Concept ID:: C0266464
•: Congenital Abnormality

Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).

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Macrogyria

MedGen UID:: 120579
•Concept ID:: C0266483
•: Congenital Abnormality

Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.

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Bilateral tonic-clonic seizure

MedGen UID:: 141670
•Concept ID:: C0494475
•: Sign or Symptom

A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.

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Global developmental delay

MedGen UID:: 107838
•Concept ID:: C0557874
•: Finding

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

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Focal impaired awareness automatism seizure

MedGen UID:: 1716979
•Concept ID:: C5397914
•: Disease or Syndrome

A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure.

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Visual loss

MedGen UID:: 784038
•Concept ID:: C3665386
•: Finding

Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).

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Abnormality of the eye
- Visual loss
Abnormality of the nervous system

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVOccipital pachygyria and polymicrogyria

Cerebral malformation due to abnormal neuronal migration
- Occipital pachygyria and polymicrogyria

Follow this link to review classifications for Occipital pachygyria and polymicrogyria in Orphanet.

Recent clinical studies

Etiology

Characterizing White Matter Tract Organization in Polymicrogyria and Lissencephaly: A Multifiber Diffusion MRI Modeling and Tractography Study.

Arrigoni F, Peruzzo D, Mandelstam S, Amorosino G, Redaelli D, Romaniello R, Leventer R, Borgatti R, Seal M, Yang JY
AJNR Am J Neuroradiol 2020 Aug;41(8):1495-1502. Epub 2020 Jul 30 doi: 10.3174/ajnr.A6646. PMID: 32732266 Free PMC Article

See all (1)

Diagnosis

The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes.

Goergen SK, Alibrahim E, Christie J, Dobrotwir A, Fahey M, Fender L, Frawley K, Manikkam SA, Pinner JR, Sinnott S, Romaniello R, Sandaradura SA, Taylor J, Vasudevan A, Righini A
AJNR Am J Neuroradiol 2021 Aug;42(8):1528-1534. Epub 2021 May 6 doi: 10.3174/ajnr.A7131. PMID: 33958329 Free PMC Article

Characterizing White Matter Tract Organization in Polymicrogyria and Lissencephaly: A Multifiber Diffusion MRI Modeling and Tractography Study.

Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report.

Inan C, Sayin NC, Gurkan H, Atli E, Gursoy Erzincan S, Uzun I, Sutcu H, Dogan S, Ikbal Atli E, Varol F
Fetal Pediatr Pathol 2019 Dec;38(6):496-502. Epub 2019 May 26 doi: 10.1080/15513815.2019.1604921. PMID: 31130048

Fukuyama congenital muscular dystrophy: a neuroradiologic review.

Aida N
J Magn Reson Imaging 1998 Mar-Apr;8(2):317-26. doi: 10.1002/jmri.1880080211. PMID: 9562058

See all (4)