Alteraciones atípicas del líquido cefalorraquídeo en el Síndrome de Guillain-Barré: Reporte de casos / Atypical Alterations of cerebrospinal fluid in Guillain Barré Syndrome: Cases Reports

RESUMEN El síndrome de Guillain-Barré se caracteriza por presentar una disociación albúmino-citológica en la mayoría de pacientes. La presencia de pleocitosis o hipoglucorraquia puede alejar el diagnóstico, por lo que se recomienda descartar, principalmente, causas infecciosas. Se presentan tres casos cuyos estudios de líquido cefalorraquídeo mostraron pleocitosis linfocítica e hiperproteinorraquia persistente y uno de ellos, además, hipoglucorraquia; fue solamente en análisis posteriores que los tres pacientes presentaron la clásica disociación albuminocitológica. El estudio neurofisiológico en todos ellos demostró asimismo un compromiso axonal. Las alteraciones atípicas en el contexto de parálisis flácida aguda justificarían repetir el análisis de líquido cefalorraquídeo y descartar otras etiologías, pero sin posponer en modo alguno el tratamiento.

SUMMARY Guillain-Barré syndrome shows a cyto-albuminologic dissociation in most patients. Pleocytosis or hypoglycorrhachia may defer the diagnosis, a reason for which an infectious etiology must be ruled out. Three cases of Guillain-Barré are described, whose cerebrospinal fluid tests showed limphocytic pleocytosis and persistently elevated protein concentration, while one of the cases also showed hypoglycorrhachia, and the classic cyto-albuminologic dissociation was only demonstrated in subsequent analysis. The neurophysiologic evaluation revealed an axonal disruption in all the patients. The atypical alterations in the context of acute flaccid paralysis warrant a retesting of the cerebrospinal fluid in order to rule out other etiologies, but without postponing the start of treatment.

Glucose Transporter Type 1 Deficiency Syndrome / 대한소아신경학회지

D-glucose is an essential fuel for metabolism in mammalian cells and the predominant fuel source for the brain. Transport of glucose across tissue barriers is mediated by stereospecific transporter proteins. Glut-1 is a major glucose transporter expressed on vascular endothelial cells comprising the blood brain barrier and is responsible for glucose entry into the brain. Impaired glucose transport across the blood brain barrier results in Glut-1 deficiency syndrome(DS). It is caused by haploinsufficiency of the blood brain barrier hexose carrier. Heterozygous mutations or hemizygosity of the GLUT-1 gene cause Glut-1 DS. It is characterized by infantile seizures refractory to anticonvulsants, developmental delay, acquired microcephaly, spasticity, ataxia, opsoclonus and other paroxysmal neurological phenomena, often occurring prior to meals. The diagnosis of Glut-1 DS is established in neurologically impaired patients with reduced cerebrospinal glucose concentration(hypoglycorrhachia) and lactate concentration in the absence of hypoglycemia. Decreased 3-O-methyl-D-glucose uptake in erythrocytes also supports the diagnosis of Glut-1 DS. Several treatment strategies have been pursued, none optimal, as it relates to the developmental encephalopahty associated with this clinical syndrome. Ketogenic diet has been effective in controlling seizures but has had little measurable effects on the associated cognitive impairments and behavioral disturbance. Current treatment is inadequate, and future studies should be directed at the mechanisms designed to upreglulate GLUT-1 expression, thereby increasing residual Glut-1 activity to 75 to 100%.

A Case of Intracranial Hypertension with Hypoglycorrhachia Caused by Bilateral Transverse Sinus Stenoses

Intracranial hypertension is a clinical syndrome of raised intracranial pressure with various etiologies. The possible pathogenic mechanisms of intracranial hypertension are excess CSF production, reduced CSF absorption and increased cerebral venous pressure. CSF glucose in intracranial hypertension is at usually normal levels and hypoglycorrhachia in intracranial hypertension has yet to be reported. We report a 23-year-old woman, who had intracranial hypertension with hypoglycorrhachia caused by a bilateral transverse sinus stenoses.