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Bilateral frontoparietal polymicrogyria(BFPP; CDCBM14A)

MedGen UID:
376107
Concept ID:
C1847352
Disease or Syndrome
Synonyms: CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 14A (BILATERAL FRONTOPARIETAL)
SNOMED CT: Bilateral frontoparietal polymicrogyria (890286007); BFPP - bilateral frontoparietal polymicrogyria (890286007)
 
Gene (location): ADGRG1 (16q21)
 
Monarch Initiative: MONDO:0011738
OMIM®: 606854
Orphanet: ORPHA101070

Definition

Complex cortical dysplasia with other brain malformations-14A (CDCBM14A) is an autosomal recessive neurologic disorder characterized by global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence. Additional features may include strabismus, nystagmus, exo- or esotropia, axial hypotonia, and spasticity. Brain imaging shows bilateral frontoparietal polymicrogyria, a frontal-predominant cobblestone malformation of the cortex, scalloping of the cortical/white matter junction, enlarged ventricles, and hypoplasia of the pons, brainstem, and cerebellum. The disorder can be classified as a malformation of cortical development (summary by Parrini et al., 2009; Luo et al., 2011; Zulfiqar et al., 2021). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039). [from OMIM]

Additional description

From MedlinePlus Genetics
Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds, and the folds are unusually small. The name of this condition literally means too many (poly-) small (micro-) folds (-gyria) in the surface of the brain.

Polymicrogyria can affect part of the brain or the whole brain. When the condition affects one side of the brain, researchers describe it as unilateral. When it affects both sides of the brain, it is described as bilateral. The signs and symptoms associated with polymicrogyria depend on how much of the brain, and which particular brain regions, are affected.

Researchers have identified multiple forms of polymicrogyria. The mildest form is known as unilateral focal polymicrogyria. This form of the condition affects a relatively small area on one side of the brain. It may cause minor neurological problems, such as mild seizures that can be easily controlled with medication. Some people with unilateral focal polymicrogyria do not have any problems associated with the condition.

Bilateral forms of polymicrogyria tend to cause more severe neurological problems. Signs and symptoms of these conditions can include recurrent seizures (epilepsy), delayed development, crossed eyes, problems with speech and swallowing, and muscle weakness or paralysis. The most severe form of the disorder, bilateral generalized polymicrogyria, affects the entire brain. This condition causes severe intellectual disability, problems with movement, and seizures that are difficult or impossible to control with medication.

Polymicrogyria most often occurs as an isolated feature, although it can occur with other brain abnormalities. It is also a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. These include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder.  https://medlineplus.gov/genetics/condition/polymicrogyria

Clinical features

From HPO
Ankle clonus
MedGen UID:
68672
Concept ID:
C0238651
Finding
Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Dysmetria
MedGen UID:
68583
Concept ID:
C0234162
Finding
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
Cerebellar hypoplasia
MedGen UID:
120578
Concept ID:
C0266470
Congenital Abnormality
Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
Truncal ataxia
MedGen UID:
96535
Concept ID:
C0427190
Sign or Symptom
Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.
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.
Broad-based gait
MedGen UID:
167799
Concept ID:
C0856863
Finding
An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
Hypoplasia of the brainstem
MedGen UID:
334226
Concept ID:
C1842688
Finding
Underdevelopment of the brainstem.
Frontal polymicrogyria
MedGen UID:
335671
Concept ID:
C1847356
Finding
A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum.
Hypoplasia of the pons
MedGen UID:
341246
Concept ID:
C1848529
Finding
Underdevelopment of the pons.
Cerebral dysmyelination
MedGen UID:
343222
Concept ID:
C1854885
Finding
Defective structure and function of myelin sheaths of the white matter of the brain.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Perisylvian polymicrogyria
MedGen UID:
481305
Concept ID:
C3279675
Finding
Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Abnormal facial shape
MedGen UID:
98409
Concept ID:
C0424503
Finding
An abnormal morphology (form) of the face or its components.
Esotropia
MedGen UID:
4550
Concept ID:
C0014877
Disease or Syndrome
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
Exotropia
MedGen UID:
4613
Concept ID:
C0015310
Disease or Syndrome
A form of strabismus with one or both eyes deviated outward.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBilateral frontoparietal polymicrogyria
Follow this link to review classifications for Bilateral frontoparietal polymicrogyria in Orphanet.

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

Quattrocchi CC, Zanni G, Napolitano A, Longo D, Cordelli DM, Barresi S, Randisi F, Valente EM, Verdolotti T, Genovese E, Specchio N, Vitiello G, Spiegel R, Bertini E, Bernardi B
Neurogenetics 2013 Feb;14(1):77-83. Epub 2012 Dec 30 doi: 10.1007/s10048-012-0352-7. PMID: 23274687
Jin Z, Luo R, Piao X
Prog Mol Biol Transl Sci 2009;89:1-13. Epub 2009 Oct 7 doi: 10.1016/S1877-1173(09)89001-7. PMID: 20374731
Guerrini R, Marini C
Exp Brain Res 2006 Aug;173(2):322-33. Epub 2006 May 25 doi: 10.1007/s00221-006-0501-z. PMID: 16724181

Diagnosis

Jain P, Sharma S, Bahi-Buisson N, Beldjord C, Aneja S
Indian J Pediatr 2015 Apr;82(4):390-1. Epub 2014 Nov 23 doi: 10.1007/s12098-014-1614-1. PMID: 25416088
Jansen A, Andermann E
J Med Genet 2005 May;42(5):369-78. doi: 10.1136/jmg.2004.023952. PMID: 15863665Free PMC Article
Chang BS, Piao X, Giannini C, Cascino GD, Scheffer I, Woods CG, Topcu M, Tezcan K, Bodell A, Leventer RJ, Barkovich AJ, Grant PE, Walsh CA
Neurology 2004 May 25;62(10):1722-8. doi: 10.1212/01.wnl.0000125187.52952.e9. PMID: 15159468
Chang BS, Piao X, Bodell A, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Grant PE, Barkovich AJ, Walsh CA
Ann Neurol 2003 May;53(5):596-606. doi: 10.1002/ana.10520. PMID: 12730993
Sztriha L, Nork M
Eur J Paediatr Neurol 2002;6(4):229-32. doi: 10.1053/ejpn.2002.0599. PMID: 12374591

Therapy

Qi W, Guan W
Biochem Pharmacol 2024 Aug;226:116395. Epub 2024 Jun 26 doi: 10.1016/j.bcp.2024.116395. PMID: 38942087
Jain P, Sharma S, Bahi-Buisson N, Beldjord C, Aneja S
Indian J Pediatr 2015 Apr;82(4):390-1. Epub 2014 Nov 23 doi: 10.1007/s12098-014-1614-1. PMID: 25416088

Prognosis

Kuo CY, Tsai MH, Lin HH, Wang YC, Singh AK, Chang CC, Lin JJ, Hung PC, Lin KL
Epilepsia Open 2023 Mar;8(1):154-164. Epub 2023 Jan 11 doi: 10.1002/epi4.12685. PMID: 36524291Free PMC Article
Bahi-Buisson N, Poirier K, Boddaert N, Fallet-Bianco C, Specchio N, Bertini E, Caglayan O, Lascelles K, Elie C, Rambaud J, Baulac M, An I, Dias P, des Portes V, Moutard ML, Soufflet C, El Maleh M, Beldjord C, Villard L, Chelly J
Brain 2010 Nov;133(11):3194-209. Epub 2010 Oct 7 doi: 10.1093/brain/awq259. PMID: 20929962
Parrini E, Ferrari AR, Dorn T, Walsh CA, Guerrini R
Epilepsia 2009 Jun;50(6):1344-53. Epub 2008 Oct 6 doi: 10.1111/j.1528-1167.2008.01787.x. PMID: 19016831Free PMC Article
Ke N, Ma H, Diedrich G, Chionis J, Liu G, Yu DH, Wong-Staal F, Li QX
Biochem Biophys Res Commun 2008 Feb 8;366(2):314-20. Epub 2007 Nov 26 doi: 10.1016/j.bbrc.2007.11.071. PMID: 18042463
Chang BS, Piao X, Giannini C, Cascino GD, Scheffer I, Woods CG, Topcu M, Tezcan K, Bodell A, Leventer RJ, Barkovich AJ, Grant PE, Walsh CA
Neurology 2004 May 25;62(10):1722-8. doi: 10.1212/01.wnl.0000125187.52952.e9. PMID: 15159468

Clinical prediction guides

Kuo CY, Tsai MH, Lin HH, Wang YC, Singh AK, Chang CC, Lin JJ, Hung PC, Lin KL
Epilepsia Open 2023 Mar;8(1):154-164. Epub 2023 Jan 11 doi: 10.1002/epi4.12685. PMID: 36524291Free PMC Article
Fujii Y, Ishikawa N, Kobayashi Y, Kobayashi M, Kato M
Brain Dev 2014 Jun;36(6):528-31. Epub 2013 Aug 24 doi: 10.1016/j.braindev.2013.07.015. PMID: 23981349
Jin Z, Luo R, Piao X
Prog Mol Biol Transl Sci 2009;89:1-13. Epub 2009 Oct 7 doi: 10.1016/S1877-1173(09)89001-7. PMID: 20374731
Parrini E, Ferrari AR, Dorn T, Walsh CA, Guerrini R
Epilepsia 2009 Jun;50(6):1344-53. Epub 2008 Oct 6 doi: 10.1111/j.1528-1167.2008.01787.x. PMID: 19016831Free PMC Article
Chang BS, Piao X, Bodell A, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Grant PE, Barkovich AJ, Walsh CA
Ann Neurol 2003 May;53(5):596-606. doi: 10.1002/ana.10520. PMID: 12730993

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