Lissencephaly
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Introduction[edit | edit source]
Lissencephaly (LIS) is a spectrum that includes various brain malformations. [1] Its prevalence is estimated at 11.7 to 40 per million births. [2]
It is derived from the combination of two Greek words meaning soft ("lissos") and brain ("enkephalos"). [2] This smooth appearance of the brain, which can be observed in MRI imaging, is associated with malformations of cortical development such as agyria (absence of gyrus), pachygyria (extremely wide gyrus), and subcortical band heterotopia (double cortex). [1][3]
Lissencephaly is generally divided into two subtypes: type 1 (classic LIS) and type 2 (cobblestone LIS). [4]
Type 1 can present in different forms such as isolated LIS, Miller-Dieker Syndrome (MDS), Norman-Roberts syndrome, and X-linked LIS with ambiguous genitalia (XLAG). [5][6]
Type 2 represents the severe end of a spectrum and can present in three syndromes: Walker-Warburg syndrome (WWS), muscle eye-brain (MEB) disease, and Fukuyama congenital muscular dystrophy (FCMD). [7][8][6]
Clinically Relevant Anatomy[edit | edit source]
Pathological Process[edit | edit source]
Clinical Presentation[edit | edit source]
Diagnostic Procedures[edit | edit source]
Outcome Measures[edit | edit source]
Management[edit | edit source]
Differential Diagnosis[edit | edit source]
Resources[edit | edit source]
References[edit | edit source]
- ↑ 1.0 1.1 Koenig M, Dobyns WB, Di Donato N. Lissencephaly: Update on diagnostics and clinical management. European Journal of Paediatric Neurology. 2021 Nov 1;35:147-52.
- ↑ 2.0 2.1 Fry AE, Cushion TD, Pilz DT. The genetics of lissencephaly. InAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics 2014 Jun (Vol. 166, No. 2, pp. 198-210).
- ↑ Malinger G, Kidron D, Schreiber L, Ben‐Sira L, Hoffmann C, Lev D, Lerman‐Sagie T. Prenatal diagnosis of malformations of cortical development by dedicated neurosonography. Ultrasound in Obstetrics and Gynecology: The Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology. 2007 Feb;29(2):178-91.
- ↑ Fernández V, Llinares‐Benadero C, Borrell V. Cerebral cortex expansion and folding: what have we learned?. The EMBO journal. 2016 May 17;35(10):1021-44.
- ↑ Herrera JF, Ramírez RG, Zárate MD. Lisencefalia tipo I: síndrome de Miller-Dieker. Informe de un caso. Revista Mexicana de Pediatría. 1999;66(4):157-60.
- ↑ 6.0 6.1 Juric-Sekhar G, Hevner RF. Malformations of cerebral cortex development: molecules and mechanisms. Annual Review of Pathology: Mechanisms of Disease. 2019 Jan 24;14:293-318.
- ↑ Shenoy AM, Markowitz JA, Bonnemann CG, Krishnamoorthy K, Bossler AD, Tseng BS. Muscle-eye-brain disease. Journal of clinical neuromuscular disease. 2010 Mar;11(3):124.
- ↑ Angelini C, Angelini C. Fukuyama congenital muscular dystrophy: walker-warburg syndrome. Springer International Publishing; 2018.
