Lissencephaly associated with cerebellar hypoplasia and myoclonic epilepsy in a Bedouin kindred: a new syndrome?

S Farah; M A Sabry; A Khuraibet; S Khaffagi; M Rudwan; M Hassan; N Haseeb; S Abulhassan; M A Abdel-Rasool; S Elgamal; B Qasrawi; W Al-Busairi; T I Farag

doi:10.1111/j.1399-0004.1997.tb02482.x

Lissencephaly associated with cerebellar hypoplasia and myoclonic epilepsy in a Bedouin kindred: a new syndrome?

Clin Genet. 1997 May;51(5):326-30. doi: 10.1111/j.1399-0004.1997.tb02482.x.

Authors

S Farah¹, M A Sabry, A Khuraibet, S Khaffagi, M Rudwan, M Hassan, N Haseeb, S Abulhassan, M A Abdel-Rasool, S Elgamal, B Qasrawi, W Al-Busairi, T I Farag

Affiliation

¹ Neurology Department, Ibn Sina Hospital, Kuwait.

PMID: 9212181
DOI: 10.1111/j.1399-0004.1997.tb02482.x

Abstract

Clinico-radiological assessment of three mentally retarded members of a large Bedouin kindred showed lissencephaly, spastic paraparesis, myoclonic epilepsy and cerebellar hypoplasia. It seems that the familial association of lissencephaly/myoclonic epilepsy/cerebellar hypoplasia represents a new entity.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology
Adult
Arabs / genetics*
Brain / pathology
Cerebellum / abnormalities*
Cerebral Cortex / abnormalities*
Epilepsies, Myoclonic / genetics*
Epilepsies, Myoclonic / pathology
Female
Humans
Intellectual Disability / genetics
Magnetic Resonance Imaging
Male
Pedigree
Syndrome