Analysis of CSF is daily routine in patients with acute neurologic disorders like CNS infections. In those patients, the finding of a low CSF glucose may influence further diagnostic workup and therapeutic choices. The interpretation of a low CSF glucose in patients with a chronic neurologic disorder, however, is a less common practice. We present a practical overview on the differential diagnosis of a low CSF glucose and stress the importance of recognizing a low CSF glucose as the diagnostic marker for GLUT1 deficiency syndrome, a treatable neurometabolic disorder. Neurology ® 2013;81:e178-e181Analysis of CSF is routine in patients with acute neurologic disorders like CNS infections. In those patients, the finding of a low CSF glucose (i.e., hypoglycorrhachia) can be decisive for further diagnostic and therapeutic management. In patients with a chronic neurologic disorder like intellectual disability or epilepsy, however, a low CSF glucose is easily overlooked, especially when other CSF parameters are normal.1 A low CSF glucose, though, is the diagnostic clue for GLUT1 deficiency syndrome (GLUT1DS), a treatable neurometabolic disorder.
2To develop a flow chart for the differential diagnosis of a low CSF glucose in neurologic disorders in children and young adults, we performed a literature search on Pubmed by using MeSH terms (CSF, glucose, CNS infections, CNS diseases) with subheadings (CSF, diagnosis), as well as free search terms such as GLUT1 deficiency syndrome, posthemorrhagic hydrocephalus, and ventriculoperitoneal shunt. Little is known, however, about the differential diagnosis of a low CSF glucose in the absence of an elevated cell count or elevated CSF lactate level (further referred to as "isolated low CSF glucose"). Therefore, we additionally performed a retrospective search in our CSF database 3 for CSF samples of patients younger than 21 years of age with an isolated low CSF glucose (figure 1). Between 1993 and 2008, the results of all CSF samples that were analyzed at the laboratory of our tertiary referral hospital (the Radboud University Medical Centre in Nijmegen, the Netherlands) were systematically collected.
RETROSPECTIVE SEARCH FOR PATIENTS WITH AN ISOLATED LOW CSF GLUCOSE3 Out of 10,193 CSF samples of patients younger than 21 years of age, we identified 68 samples (0.7%) of 64 unique patients with an isolated low CSF glucose (for inclusion and exclusion criteria see figure e-1 on the Neurology ® Web site at www.neurology.org). For methods, we refer to Leen et al. 3 Medical records of these patients were evaluated (according to the regulations of the local Medical Ethical Committee, METC Arnhem-Nijmegen) (table e-1). Two patients were already diagnosed with GLUT1DS. Twelve patients were retrospectively clinically suspected of GLUT1DS because of intellectual disability, epilepsy, or movement disorders, and the absence of another final diagnosis. We were able to contact 11 patients and/or caregivers, and a lumbar puncture was repeated in 5 patients, revealing a normal CSF glucos...