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Magnetic resonance imaging (MRI) of the brain of ZTTK syndrome patients have revealed significant abnormalities. [ 1 ] Abnormal gyration patterns were seen, including polymicrogyria ; many unusually small folds in the brain, simplified gyria; reduced number and shallow appearance of gyri, and periventricular nodular heterotopia; failure of ...
XLP syndrome X-linked lymphoproliferative syndrome (see Duncan Disease) XLSA X-linked sideroblastic anemia: XMEA X-linked myopathy with excessive autophagy: XMEN X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia XP Xeroderma pigmentosa: XSCID X-linked severe combined immunodeficiency: XXX syndrome ...
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome Cloverleaf skull Last case reported in 1987. [36] Cloverleaf skull-multiple congenital anomalies syndrome Cloverleaf skull Seen in 3 siblings from 1 family. [37] Contractures, pterygia, and spondylocarpotarsal fusion syndrome Microcephaly [38] Cole-Carpenter syndrome: Coronal Turricephaly
Radiologically isolated syndrome (RIS) is a clinical situation in which a person has white matter lesions suggestive of multiple sclerosis (MS), as shown on an MRI scan that was done for reasons unrelated to MS symptoms.
Posterior reversible encephalopathy syndrome; Other names: Reversible posterior leukoencephalopathy syndrome (RPLS) Posterior reversible encephalopathy syndrome visible on magnetic resonance imaging as multiple cortico-subcortical areas of T2-weighted hyperintense (white) signal involving the occipital and parietal lobes bilaterally and pons.
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]
AHC patients exhibit a wide range of symptoms in addition to hemiplegic attacks. [1] These can be further characterized as paroxysmal and non-paroxysmal symptoms. Paroxysmal symptoms are generally associated with hemiplegic attacks and may occur suddenly with hemiplegia or on their own.
Area Postrema Syndrome (prolonged episodes of hiccuping or vomiting/nausea) dorsal medulla/area postrema lesions Acute brainstem syndrome: periependymal brainstem lesions Symptomatic narcolepsy/acute diencephalic clinical syndrome with an MRI showing diencephalon lesion(s) None additional Symptomatic cerebral syndrome with NMOSD-typical brain ...