Abstract
Lissencephaly (LIS) is a brain malformation manifested by a smooth cerebral surface, thickened cortical mantle and microscopic evidence of incomplete neuronal migration, excluding polymicrogyria and other cortical dysplasias. It is important to consider LIS in the diagnosis of developmental delay as many patients may be diagnosed as cerebral palsy. It may have familial occurrence and can occur in sibs of same family often leading to a diagnostic problem. Several lissencephaly syndromes have been described. Here a familial syndrome of lissencephaly is reported. Autosomal recessive inheritance is suggested by recurrence in sibs within the same family, but germ cell mosaicism for a dominant mutation cannot be excluded.
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References
Panda S, Tripathi M, Jain S, Sharma P, 2003. X-linked lissencephaly in an Indian family. Neurology India 51: 392–393.
Dobyns WB, Pagon RA, Armstrong D, Curry CJ, Greenberg F, Grix A, Holmes LB, Laxova R, Michels VV, Robinow M et al. 1989. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet 32: 195–210.
Dobyns WB, Curry CJR, Hoyme HE, Turlington L, Ledbetter DH, 1991. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am J Human Genet 48: 584–594.
Iannetti P, Schwartz CE, Dietz-Band J, Light E, Timmerman J, Chessa L, 1993. Norman-Roberts syndrome: Clinical and molecular studies. Am J Med Genet 47: 95–99.
Lo Nigro C, Chong SS, Smith ACM, Dobyns WB, Carrozzo R, Ledbetter DH, 1997. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Human Molecul Genet 6: 157–164.
Ledbetter SA, Kuwano A, Dobyns WB, Ledbetter DH, 1992. Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. Am J Human Genet 50: 182–189.
Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME, 1998. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Human Molecul Genet 7: 2029–2037.
Norman MG, Roberts M, Sirois J, Tremblay LJM, 1976. Lissencephaly. Canadian Journal of Neurological Sciences 3: 39–46.
Dobyns WB, Truwit CL, 1995. Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics 26: 132–147.
Rodgers BL, Vanner LV, Pai GS, Sens MA, 1994. Walker-Warburg syndrome: Report of three affected sibs. American Journal of Medical Genetics 49: 198–201.
Attia-Sobol J, Encha-Razavi F, Hermier M, Vitrey D, Verloes A, Plauchu H, 2001. Lissencephaly type III, stippled epiphyses and loose, thick skin: A new recessively inherited syndrome. American Journal of Medical Genetics 99: 14–20.
Hong SE, Shugart YY, Huang DT, Al Shahwan S, Grant PE, Hourihane JOB, Martin NDT, Walsh CA, 2000. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nature Genetics 26: 93–96.
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Garg, A., Sridhar, M.R. & Gulati, S. Autosomal recessive type I lissencephaly. Indian J Pediatr 74, 199–201 (2007). https://doi.org/10.1007/s12098-007-0017-y
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DOI: https://doi.org/10.1007/s12098-007-0017-y