Further comments on the lissencephaly syndromes

✍ Scribed by Dobyns, William B. ;Gilbert, Enid F. ;Opitz, John M. ;Reynolds, James F.

• Publisher: John Wiley and Sons
• Year: 1985
• Tongue: English
• Weight: 978 KB
• Volume: 22
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320220119

✦ Synopsis

Two recent papers in this Journal have dealt with two distinct groups or types of lissencephaly syndromes. Type I (or classical) lissencephaly is usually associated with microcephaly and a typical appearance of the cerebral cortex. It is a major manifestation of Miller-Dieker and Norman-Roberts syndromes but also occurs as an isolated developmental defect [Dobyns et al, 19841. Type I1 lissencephaly is usually (but not always) associated with hydrocephalus and other severe malformations of the brain and eyes. It is a major manifestation of Walker-Warburg and cerebro-oculomuscular syndromes and probably does not occur as an isolated defect [Dobyns et al, 19851. Recently, two children with an unusual form of lissencephaly came to our attention and we wish to report our observations regarding these patients. We will also present a classification of the lissencephaly syndromes and review the counseling implications for each group of patients.

CLINICAL REPORTS Patient 1

The patient, a girl, was born at 36 weeks gestation to a 31-year-old mother and unrelated 28-year-old father. The mother may have had a previous early miscarriage; a younger brother is healthy. The family history was unremarkable. The pregnancy was complicated by polyhydramnios, microcephaly (both noted by ultrasound), and premature labor at about 32 weeks, stopped with medication. Meconium staining of amniotic fluid was observed during delivery. At birth, Apgar scores were 2 and 5 , and seizure activity was observed. She was resuscitated and intubated. Ventilatory support was required for 2 days and supplemental oxygen thereafter. When the rate of oxygen was decreased, seizure activity appeared to increase.