Lissencephaly Syndrome:
A congenital deficiency stemming from abnormal defects of the nervous system, Lissencephaly Syndrome is a rare neurological disorder of early brain development, caused by defective neuronal migrations during the twelfth to twenty-fourth week of fetal gestation, in which brain folds and grooves do not properly form.
Lissencephaly Syndrome may occur as an isolated abnormality, and be characterized by agyria malformations of the cerebral cortex, pachygyria thickenings of the cerebral cortex, and microphaly, a condition in which the circumference of the patient’s head is more than two deviations smaller than the average size for their age and sex.
Children born with Lissencephaly Syndrome often die within a few months of birth, and may display seizures, hypotonia, low muscle tones, spastic muscles, difficulty swallowing, small head sizes, severe psychomotor retardation, abnormalities of their hands, fingers, and toes, and cerebral palsy.
Causes:
Viral infections of the uterus, or fetus, during the first trimester of pregnancy, insufficent blood flows to the brain of the developing fetus, and gene mutations of at least five known genes, including Chromosome 7, Chromosome 17, and the X-Chromosomes, may be attributable causes of Lissencephaly Syndrome.
Abnormal facial features of patients with Lissencephaly Syndrome may include tall foreheads, smooth noses, depressed nasal bridges, thin upper lips, and bitemperal narrowing of their foreheads.
Miller-Dieker Syndrome:
Studies show about forty-three percent of all Classic Lissencephaly cases can be characterized by Miller-Dieker Syndrome of brain defects, caused by incomplete neuronal migrations, from their places of origin to their final brain positions.
Cobblestone Lissencephaly:
Cobblestone Lissencephaly can be associated with Walker-Warburg Syndrome, a rare, autosomal recessive, congenital muscular dystrophy, Norman-Roberts Syndrome caused by mutations in the reelin gene preventing normal layering of the cerebral cortex from six layers to only four, Muscle-Eye-Brain Disease, Fukayama Disease, and the corpus callosum nervous tissues not connecting the two cerebral hemispheres of the brain together preventing them from communicating with one another.
Examinations:
Doctors who may be part of the medical team for patients with Lissencephaly Syndrome can include Pediatric Neurologists, Pediatricians, Physical Therapists, and Geneticists. Ultrasounds, CTs, MRIs, gene testings, neuroimages, and Chorionic Villus Samplings may be used to help diagnose this ailment with no known cures, and generally little recovery.
Lymphedema:
Lymphedema associated with Lissenchephaly Syndrome may include Congenital Lymphedema, Cerebellar Lymphedema, and Lymphedema of the feet.
Previously: Paint It Yellow Nail Syndrome.
Next Time: Truncal Lymphedema And Breast Cancer Surgeries.
