神経線維腫症1型(NF1)乳児におけるびまん性眼筋腫大
Sila Dogan Tosun1, Brigid C Devine2, Nancy Hanna1
1Vision Center, Akron Children's Hospital, Akron, Ohio; Northeast Ohio Medical University, Rootstown, Ohio.
Abstract:
Neurofibromatosis type 1 (NF1), a multisystemic autosomal dominant neurocutaneous disorder, presents with diverse ocular and systemic manifestations. It requires a multidisciplinary diagnostic and therapeutic approach. The ocular findings in NF1, such as Lisch nodules and optic pathway gliomas, are well studied and recognized as diagnostic criteria. We report the case of an infant with NF1 who was found on magnetic resonance imaging to have diffuse enlargement of the extraocular muscles.
関連する概念動画
Enlargement of the Plasma Membrane
Types of Skeletal Muscle Fibers
Fast-twitch fibers
Fast-twitch fibers, or Type II fibers, are designed for quick, powerful bursts of speed and strength. They reach peak tension within approximately 0.01 seconds following stimulation. Characterized by a large diameter and densely packed myofibrils, these fibers contain...
Diffusion
Diffusion
Classification of Skeletal Muscle Fibers
Slow-Twitch Muscle Fibers
Slow oxidative, muscle fibers appear red due to large numbers of capillaries and high levels of...
Facilitated Diffusion
In this process, substrates such as organic compounds and ions interact with a transporter on one side, triggering conformational changes in proteins that enable...


