Abstract
Clinical, cytogenetic and molecular studies in 65 patients with isolated lissencephaly sequence (ILS) are reported from Indiana University School of Medicine, Indianapolis; Tufts New England Medical Center, Boston; Eastern Virginia Medical School, Norfolk; University of Washington School of Medicine, Seattle; and Baylor College of Medicine, Houston.
Highlights
The primary pysiological abnormality in hyperekplexia involves spinal as well as brainstem hyperexcitability (Matsumoto J et al Ann Neurol July 1992; 32:41-50)
All were severely mentally retarded, and 76% had a mixed seizure disorder that progressed to infantile spasms in 35%
Feeding difficulties usually improved after several days or weeks
Summary
The primary pysiological abnormality in hyperekplexia involves spinal as well as brainstem hyperexcitability (Matsumoto J et al Ann Neurol July 1992; 32:41-50). Cytogenetic and molecular studies in 65 patients with isolated lissencephaly sequence (ILS) are reported from Indiana University School of Medicine, Indianapolis; Tufts New England Medical Center, Boston; Eastern Virginia Medical School, Norfolk; University of Washington School of Medicine, Seattle; and Baylor College of Medicine, Houston. All patients had type I lissencephaly of varying severity and a grossly normal cerebellum; 17% had agenesis of the corpus callosum and 21% had cavum septi pellucidi. The facial appearance was described as essentially normal, but subtle abnormalities were observed, including microcephaly (71%), bitemporal hollowing (70%), abnormal nasal bridge (49%), and small jaw (58%).
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