Microlissencephaly: Difference between revisions
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==Diagnosis== |
==Diagnosis== |
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Microlissencephaly can be diagnosed by [[prenatal]] [[MRI]].<ref name="Nadia">{{Cite book|url=http://www.ncbi.nlm.nih.gov/books/NBK350554/|title=GeneReviews(®)|last=Bahi-Buisson|first=Nadia|last2=Cavallin|first2=Mara|date=1993|publisher=University of Washington, Seattle|editor-last=Adam|editor-first=Margaret P.|location=Seattle (WA)|pmid=27010057|editor-last2=Ardinger|editor-first2=Holly H.|editor-last3=Pagon|editor-first3=Roberta A.|editor-last4=Wallace|editor-first4=Stephanie E.|editor-last5=Bean|editor-first5=Lora JH|editor-last6=Mefford|editor-first6=Heather C.|editor-last7=Stephens|editor-first7=Karen|editor-last8=Amemiya|editor-first8=Anne|editor-last9=Ledbetter|editor-first9=Nikki}}</ref> |
Microlissencephaly can be diagnosed by [[prenatal]] [[MRI]].<ref name="Nadia">{{Cite book|url=http://www.ncbi.nlm.nih.gov/books/NBK350554/|title=GeneReviews(®)|last=Bahi-Buisson|first=Nadia|last2=Cavallin|first2=Mara|date=1993|publisher=University of Washington, Seattle|editor-last=Adam|editor-first=Margaret P.|location=Seattle (WA)|pmid=27010057|editor-last2=Ardinger|editor-first2=Holly H.|editor-last3=Pagon|editor-first3=Roberta A.|editor-last4=Wallace|editor-first4=Stephanie E.|editor-last5=Bean|editor-first5=Lora JH|editor-last6=Mefford|editor-first6=Heather C.|editor-last7=Stephens|editor-first7=Karen|editor-last8=Amemiya|editor-first8=Anne|editor-last9=Ledbetter|editor-first9=Nikki}}</ref> At birth, lissencephaly with a [[head circumference]] of less than [[68–95–99.7 rule|minus three standard deviations]] is considered microlissencephaly.<ref>{{Cite journal|last=Kato|first=Mitsuhiro|date=2015-05-21|title=Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias|url=http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439546/|journal=Frontiers in Neuroscience|volume=9|doi=10.3389/fnins.2015.00181|issn=1662-4548|pmc=PMC4439546|pmid=26052266}}</ref> |
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===Differential Diagnosis=== |
===Differential Diagnosis=== |
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Revision as of 19:27, 7 November 2017
| Microlissencephaly | |
|---|---|
.jpg) | |
| Microlissencephaly in a 27 WG (week of gestation) foetus with TUBB2B mutation. Macroscopical view of the left hemisphere showing agyria, absent sylvian fissure and absent olfactory bulb. | |
| Specialty | Neurology |
| Types | Norman-Roberts syndrome, Barth syndrome, MLIS3, MLIS4 |
| Causes | Genetic, congenital infection |
Microlissencephaly (MLIS) is a neuronal migration disorder (NMD) that combines severe congenital microcephaly with lissencephaly (smooth brain). They suffer from spasticity, seizures, severe developmental delay and intellectual disabilities with survival varying from days to years. Patients may also have dysmorphic craniofacial features, abnormal genitalia, and arthrogryposis.[1][2][3]
The combination of lissencephaly with severe congenital microcephaly is designated as microlissencephaly only when the cortex is abnormally thick. If such combination exists with a normal cortical thickness (2.5 to 3 mm[4]), it is known as "microcephaly with simplified gyral pattern" (MSGP).[5] Both MLIS and MSGP are inherited in autosomal recessive manner.[6] Prior to 2000, the term “microlissencephaly” was used to designate both MLIS and MSGP.[1]
Pathophysiology
Most cases of microlissencephaly are described in consanguineous families suggesting an autosomal recessive inheritance.[7][2][6] Mutation of RELN gene or CIT could cause MLIS.[2][8][9] Homozygous frameshift mutations in NDE1 gene was found to cause microlissencephaly with up to 90% reduction in brain mass, while the affected individuals showed normal development of non-CNS organs.[10][11] Some other disease-causing genes include: KATNB1 and WDR62. Microlissencepahly is considered a tubulinopathy (tubulin gene defect)[12] i.e. is caused by mutation in tubulin genes, TUBA1A, TUBB2B, TUBB3. This implys the critical role of microtubule cytoskeleton in the pathophysiology of this condition.[7]
Congenital infections like cytomegalovirus are also known to cause microlissencephaly.[2]
Both microlissencephaly and microcephaly with simplified gyral pattern result from either decreased cell proliferation or increased apoptosis in the germinal zone of the cerebral cortex.[13]
Diagnosis
Microlissencephaly can be diagnosed by prenatal MRI.[12] At birth, lissencephaly with a head circumference of less than minus three standard deviations is considered microlissencephaly.[14]
Differential Diagnosis
Microlissencephaly is considered a more severe form than microcephaly with simplified gyral pattern. Microlissencephaly is characterized by a smooth cortical surface with a thickened cortex (> 3 mm) and is usually associated with other congenital anomalies. Microcephaly with a simplified gyral pattern has too few sulci and normal cortical thickness (3 mm) and is usually an isolated anomaly.[13]
| Microlissencephaly | MSGP | |
|---|---|---|
| Mode of inheritance (if genetic) | Autosomal recessive | |
| Cortical thickness | thickened (>3 mm) | normal (3 mm) |
| Cortical surface | smooth | too few sulci |
| Severity | Severe form | Mild form |
| Associated anomalies? | usually present | not present (MSGP is usually isolated) |
Types
Microlissencephaly can be subclassified based on imaging and clinical picture into 4 types:[6][15][16]
- MLIS1, Microlissencephaly Type A or Norman-Roberts syndrome: a microlissencephaly with thick cortex without infratentorial anomalies.
- MLIS2, Microlissencephaly Type B or Barth syndrome: is a microlissencephaly with thick cortex, severe cerebellar and brainstem hypoplasia.
- MLIS3: Microlissencephaly with intermediate cortex and abrupt anteroposterior gradient
- MLIS4: Microlissencephaly with mildly to moderately thick (6-8 mm) cortex, callosal agenesis
Treatment
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References
- ^ a b Verloes, Alain; Drunat, Séverine; Gressens, Pierre; Passemard, Sandrine (1993). Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Lora JH; Mefford, Heather C.; Stephens, Karen; Amemiya, Anne; Ledbetter, Nikki (eds.). GeneReviews(®). Seattle (WA): University of Washington, Seattle. PMID 20301772.
- ^ a b c d Coley, Brian D. (2013-05-21). Caffey's Pediatric Diagnostic Imaging E-Book. Elsevier Health Sciences. ISBN 1455753602.
- ^ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Microlissencephaly". www.orpha.net. Retrieved 2017-11-07.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ Hutton, Chloe; De Vita, Enrico; Ashburner, John; Deichmann, Ralf; Turner, Robert (2008-05-01). "Voxel-based cortical thickness measurements in MRI". Neuroimage. 40 (4): 1701–1710. doi:10.1016/j.neuroimage.2008.01.027. ISSN 1053-8119. PMC 2330066. PMID 18325790.
- ^ Swaiman, Kenneth F.; Ashwal, Stephen; Ferriero, Donna M.; Schor, Nina F. (2011-11-11). Swaiman's Pediatric Neurology - E-Book: Principles and Practice. Elsevier Health Sciences. ISBN 0323089119.
- ^ a b c Martin, Richard J.; Fanaroff, Avroy A.; Walsh, Michele C. (2014-08-20). Fanaroff and Martin's Neonatal-Perinatal Medicine E-Book: Diseases of the Fetus and Infant. Elsevier Health Sciences. ISBN 9780323295376.
- ^ a b Cavallin, Mara; Rujano, Maria A.; Bednarek, Nathalie; Medina-Cano, Daniel; Bernabe Gelot, Antoinette; Drunat, Severine; Maillard, Camille; Garfa-Traore, Meriem; Bole, Christine (2017-10-01). "WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells". Brain: A Journal of Neurology. 140 (10): 2597–2609. doi:10.1093/brain/awx218. ISSN 1460-2156. PMID 28969387.
- ^ Fallet-Bianco, Catherine; Laquerrière, Annie; Poirier, Karine; Razavi, Ferechte; Guimiot, Fabien; Dias, Patricia; Loeuillet, Laurence; Lascelles, Karine; Beldjord, Cherif (2014-07-25). "Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly". Acta Neuropathologica Communications. 2. doi:10.1186/2051-5960-2-69. ISSN 2051-5960. PMC 4222268. PMID 25059107.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ Harding, Brian N.; Moccia, Amanda; Drunat, Séverine; Soukarieh, Omar; Tubeuf, Hélène; Chitty, Lyn S.; Verloes, Alain; Gressens, Pierre; El Ghouzzi, Vincent (2016-08-04). "Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons". The American Journal of Human Genetics. 99 (2): 511–520. doi:10.1016/j.ajhg.2016.07.003. ISSN 0002-9297. PMID 27453579.
- ^ "t(5;16)(q32;p13) NDE1/PDGFRB". atlasgeneticsoncology.org. Retrieved 2017-11-07.
- ^ Houlihan, Shauna L; Feng, Yuanyi (2014-09-23). "The scaffold protein Nde1 safeguards the brain genome during S phase of early neural progenitor differentiation". eLife. 3. doi:10.7554/eLife.03297. ISSN 2050-084X.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ a b Bahi-Buisson, Nadia; Cavallin, Mara (1993). Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Lora JH; Mefford, Heather C.; Stephens, Karen; Amemiya, Anne; Ledbetter, Nikki (eds.). GeneReviews(®). Seattle (WA): University of Washington, Seattle. PMID 27010057.
- ^ a b Razek, A. A. K. Abdel; Kandell, A. Y.; Elsorogy, L. G.; Elmongy, A.; Basett, A. A. (2009-01-01). "Disorders of Cortical Formation: MR Imaging Features". American Journal of Neuroradiology. 30 (1): 4–11. doi:10.3174/ajnr.A1223. ISSN 0195-6108. PMID 18687750.
- ^ Kato, Mitsuhiro (2015-05-21). "Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias". Frontiers in Neuroscience. 9. doi:10.3389/fnins.2015.00181. ISSN 1662-4548. PMC 4439546. PMID 26052266.
{{cite journal}}: CS1 maint: PMC format (link) CS1 maint: unflagged free DOI (link) - ^ Martin, Richard J.; Fanaroff, Avroy A.; Walsh, Michele C. (2014-08-20). Fanaroff and Martin's Neonatal-Perinatal Medicine E-Book: Diseases of the Fetus and Infant. Elsevier Health Sciences. ISBN 9780323295376.
- ^ Ashwal, Stephen; Michelson, David; Plawner, Lauren; Dobyns, William B. (2009-09-15). "Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review)". Neurology. 73 (11): 887–897. doi:10.1212/WNL.0b013e3181b783f7. ISSN 0028-3878. PMC 2744281. PMID 19752457.
{{cite journal}}: CS1 maint: PMC format (link)