An infant with isolated Lissencephaly.
نویسندگان
چکیده
Lissencephaly or agyria is a prototype of disorders of neuronal migration, a rare type of hereditary malformation of the brain, which manifests with smooth cerebral surface, poorly defined sylvian fissures with thickened cerebral cortical mantle. A case of an infant with isolated variety is presented highlighting some of the major associated clinical features, which include profound intellectual impairment, seizures and hypotonia that later evolves to spasticity in the 2nd year of life. Morbidity is usually high and mortality is dependent on associated deficits.
منابع مشابه
Sonographic recognition of lissencephaly (agyria).
Lissencephaly ("smooth brain") or agyria is a rare congenital malformation resulting from an arrest of the development of the human brain during the third to fourth month of gestation [1]. Before this stage of fetal cerebral development, the absence of gyri is normal [2]. The radiologic findings on plain skull radiography, pneumoencephalography, cerebral arteriography, and , more recently, cran...
متن کاملA case of lissencephaly in a 5-month-old infant.
To cite: Syed AE. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014206522 DESCRIPTION A 5-month-old full-term male patient, born of a nonconsanguineous marriage presented to A&E department following parental concerns about abnormal movements and developmental regression. Development halted at 4 months of age. The patient increasingly showed episodes with flicke...
متن کاملX-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report
Background: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder, in which patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. XLAG is responsible for a severe neurological disorder of neonatal onset in boys. A gyration defect con...
متن کاملPrenatal diagnosis of lissencephaly: A case report.
INTRODUCTION Lissencephaly ("smooth brain") forms a major group of brain malformations due to abnormal neuronal migration. It can cause severe intellectual and motor disability and epilepsy in children. The prenatal diagnosis of this malformation is rare. CASE REPORT We presented a case of the prenatal diagnosis of lissencephaly. A 30-year-old pregnant woman was reffered to the hospital at th...
متن کاملA revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
Miller-Dieker syndrome (MDS) is a multiple malformation syndrome characterized by classical lissencephaly and a characteristic facies. It is associated with visible or submicroscopic deletions within chromosome band 17p13.3. Lissencephaly without facial dysmorphism has also been observed and is referred to as isolated lissencephaly sequence (ILS). Apparently partial and non-overlapping deletion...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Neurosciences
دوره 6 4 شماره
صفحات -
تاریخ انتشار 2001