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ZTTK syndrome (Zhu-Tokita-Takenouchi-Kim syndrome) is a rare multisystem disease caused in humans by a genetic mutation of the SON gene. Common symptoms include developmental delay and often light to severe intellectual disability .
Carnitine palmitoyltransferase II deficiency, sometimes shortened to CPT-II or CPT2, is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source. The disorder presents in one of three ...
Axial fluid-attenuated inversion recovery MRI image demonstrating tumor-related infiltration involving lenticular nuclei (Arrow). Axial fluid-attenuated inversion recovery MRI image demonstrating tumor-related infiltration involving both temporal lobes (Short arrow), and the substantia nigra (Long arrow).
In many cases there is evidence of constriction of the blood vessels (if angiography is performed), suggesting a possible overlap with reversible cerebral vasoconstriction syndrome (RCVS). Diffusion MRI may be used to identify areas of cytotoxic edema caused by poor blood flow (ischemia) but it is not clear if this prognostically relevant.
MRI is the gold standard for diagnosing the empty sella sign. Key features include: [5] CSF signal: The sella turcica is filled with material that follows the signal characteristics of CSF on T1-weighted and T2-weighted images. Flattened pituitary gland: The pituitary gland appears thin and plastered against the sellar floor or walls.
The most significant impact of magnetic resonance neurography is on the evaluation of the large proximal nerve elements such as the brachial plexus (the nerves between the cervical spine and the underarm that innervate shoulder, arm and hand), [9] the lumbosacral plexus (nerves between the lumbosacral spine and legs), the sciatic nerve in the pelvis, [10] as well as other nerves such as the ...
Diffusion imaging is an MRI method that produces in vivo magnetic resonance images of biological tissues sensitized with the local characteristics of molecular diffusion, generally water (but other moieties can also be investigated using MR spectroscopic approaches). [15] MRI can be made sensitive to the motion of molecules.
In the late stages of the disease, patients have been noted to develop impaired coordination, overresponsive reflexes, and even seizures. MRI testing is used to study and diagnose patients with this disease. A study conducted on four patients with this disease yielded similar MRI results despite their slightly differing symptoms. [11]