Lissencephaly — ‘Who should be diagnosing it?’
Keywords:
Lissencephaly, Neuronal migration
Abstract
Lissencephaly is a rare congenital developmental brain disorder resulting from defect in neuronal migration, leading to a characteristic marked reduction or absence of the convolution pattern of the cerebral hemispheres. The paucity in the development of brain gyri and sulci is due to defective neuronal migration during 10-14 weeks. We report a lissencephaly case, in 33 weeks+5days twins with refractory seizures and review the literature regarding the same.
References
1. Norman MC, McGilliuray BC, Kalousek DK, Hill A, Poskitt KJ. Congenital malformations of the brain: pathologic, embriologic, clinical, radiologic and genetic aspects. Oxford: Oxford University Press; 1995.
2. Guerrini R, Parrini E. Neuronal migration disorders. Neurobiol Dis 2010; 38(2): 154−66.
3. Dobyns Wb, Leventer LJ. Lissencephaly: the clinical and molecular genetic basis of diffuse malformations of neuronal migration. In Disorder of neuronal migration. International review of child neurology series. 2003: 24-57.
4. Dobyns Wb, Truwit CL. Lissencephaly and Other Malformations of Cortical Development: 1995 Update. Neuropediatrics 1995; 26(3): 132−47
5. Dobyns WB, Stratton RF, Parke JT, Greenberg F, Nussbaum RL, Ledbetter DH. Miller–Dieker syndrome: lissencephaly and monosomy 17p. J Pediatrics1983; 102: 552–564.
6. Warburg M. Hydrocephaly, congenital retinal nonattachment, and congenital falciform fold. Am J Ophthalmol. 1978;85:88– 94.
7. M.E. Ross, K. Swanson, W.B. Dobyns. Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics, 32 (2001), pp. 256–263
8. O.A. Glenn, A.J. Barkovich Magnetic resonance imaging of the fetal brain and spine: an increasingly important tool in prenatal diagnosis, Part 1 AJNR Am J Neuroradiol, 27 (2006), pp. 1604–1611
9. GrecoP, Resta M, Vimercati A, et al. Antenatal diagnosis of isolated lissencephaly by ultrasound and magnetic resonance imaging. Ultrasound Obstet Gynecol1998;12:276–279.
10. Ganeshwaran H, Mochida. Genetics and biology of microcephaly and lissencephaly. Semin Pediatr Neurol. 2009; 16 (3): 120- 126
2. Guerrini R, Parrini E. Neuronal migration disorders. Neurobiol Dis 2010; 38(2): 154−66.
3. Dobyns Wb, Leventer LJ. Lissencephaly: the clinical and molecular genetic basis of diffuse malformations of neuronal migration. In Disorder of neuronal migration. International review of child neurology series. 2003: 24-57.
4. Dobyns Wb, Truwit CL. Lissencephaly and Other Malformations of Cortical Development: 1995 Update. Neuropediatrics 1995; 26(3): 132−47
5. Dobyns WB, Stratton RF, Parke JT, Greenberg F, Nussbaum RL, Ledbetter DH. Miller–Dieker syndrome: lissencephaly and monosomy 17p. J Pediatrics1983; 102: 552–564.
6. Warburg M. Hydrocephaly, congenital retinal nonattachment, and congenital falciform fold. Am J Ophthalmol. 1978;85:88– 94.
7. M.E. Ross, K. Swanson, W.B. Dobyns. Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics, 32 (2001), pp. 256–263
8. O.A. Glenn, A.J. Barkovich Magnetic resonance imaging of the fetal brain and spine: an increasingly important tool in prenatal diagnosis, Part 1 AJNR Am J Neuroradiol, 27 (2006), pp. 1604–1611
9. GrecoP, Resta M, Vimercati A, et al. Antenatal diagnosis of isolated lissencephaly by ultrasound and magnetic resonance imaging. Ultrasound Obstet Gynecol1998;12:276–279.
10. Ganeshwaran H, Mochida. Genetics and biology of microcephaly and lissencephaly. Semin Pediatr Neurol. 2009; 16 (3): 120- 126
Published
2019-07-23
How to Cite
Dr. R. Kishore Kumar, Girish S V , Nayana Prabha P.C., Gill K S. (2019). Lissencephaly — ‘Who should be diagnosing it?’. The Indian Practitioner, 69(9), 25-27. Retrieved from https://articles.theindianpractitioner.com/index.php/tip/article/view/379
Section
Case Reports
