Although autosomal recessive HSP represents a heterogeneous group of diseases, some phenotypes can be defined by analyzing a large group of patients. The fact that only one Algerian family was linked to chromosome 8 suggests that this is a rare localization even in kindreds with the same ethnic background. Linkage to chromosome 16 was found in 2 clinically diverse Portuguese kindreds, illustrating that this locus is also rare and may correspond to different phenotypes.
The patient met the criteria for the diagnosis of MS according to the 2010 McDonald criteria. The timely and accurate diagnosis of MS requires the recognition of its varied and atypical clinical manifestations.
Cerebral syphilitic gummas are rare entities, consisting of masses of granulation tissue that result from an exacerbated cell-mediated inflammatory response to Treponema pallidum, usually arising from the meninges of the convexity. Conventional magnetic resonance imaging and computed tomography findings of cerebral gummas have been reported, but diffusion-weighted imaging findings have not been previously described. In our patient, magnetic resonance imaging revealed a juxtacortical lesion with nodular enhancement, moderately restricted diffusion, a dural tail, and surrounding vasogenic edema. The role of diffusion-weighted imaging findings in the diagnosis of this condition is underscored.
Recognizing typical dermatologic changes is keystone for the diagnosis of LScs with neurological involvement. It is a diagnosis of exclusion and extensive etiological diagnostic evaluation should be performed. Treatment options, including conservative follow-up or immunosuppressive therapy, should be carefully considered.
Antibodies against N-methyl-D-aspartate receptor (NMDAR) are identified in the form of immunemediated encephalitis in which typical manifestations include neuropsychiatric symptoms, seizures, abnormal movements, dysautonomia and hypoventilation. The authors report two cases of anti-NMDAR encephalitis with different presentations and patterns of progression. The first patient presented with status epilepticus and later developed psychosis, pyramidal signs and diffuse encephalopathy. The second patient presented with acute psychosis followed a week later by seizures, dystonia, rigidity, oromandibular dyskinesias and dysautonomia. Possible mechanisms responsible for the clinical manifestations of this disease are discussed in light of recently described additional clinical and laboratory findings.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.