Question

A young patient is brought to the doctor because of failure to thrive and is diagnosed with lissencephaly. Disruption in what signals, involved in what process, would cause this diagnosis.

Answer 1

Hi Answer:

A young patient is brought to the doctor because of failure to thrive and is diagnosed with lissencephaly. Disruption in what signals, involved in what process, would cause this diagnosis.

Answer: Lissencephaly is the rare brain disorder in which the whole surface of the brain it appears to be smooth instead of having wrinkles and grooves. This disorder and 1 in every 100,000 babies is born with lissencephaly. The major cause of this disorder is defective neuronal migration during the 12th to 24th weeks of gestation resulting in a lack of development of brain folds (gyri) and grooves (sulci). The viral infection of the uterus or the fetus and poor blood supply during the first trimester also causes this disorder.

Symptoms: failure to thrive, seizures, hypotonia and psychomotor retardation are the most common symptoms.

Diagnosis: After birth by ultrasound, CT scan, or MRI.

Treatment: This disorder is reversible and the patient has to live with this. The treatment is only to support and comfort affected children. The children affected severely with lissencephaly may survive up to 10 years and die due to choking or respiratory tract or food pipe or may due to seizures.