PHYSCI 121 Lecture Notes - Lecture 33: Optic Nerve Hypoplasia, Dystroglycan, Lissencephaly
Document Summary
Case study 1: brain malformation on prenatal ultrasound at 7 months gestation, profoundly hypotonic at birth and throughout life, bilateral optic nerve hypoplasia, glaucoma (blind, ck 2,000 at 3 weeks (ck reflects leaky muscle membrane) Seizures at 1 month: died at 23 months. This patient has walker-warber syndrome (severe form of dystroglycanopathies) In the patient"s mri, the brain is very smooth (lissencephaly), a fluid filled space in the brain, no perfusion, the brainstem is wrapped, When the brain develops in the normal, the cobblestone climbs up to the dystroglycan and stops before it hits it. Cobblestone, must be heavily glycosolated and attached to prevent breakdown of membrane. In the patient, cobblestone keeps climbing, not knowing when to stop and goes through a broken membrane. The brain, eye and muscle abnormalities due to abnormal glycosylation of a-dystroglycan can be quite severe. The brain and eye abnormalities occur during development. They are also due to loss of -dystroglycan binding to extracellular matrix.
