ABSTRACT
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a treatable condition resulting from impaired glucose transport into the brain. The classical presentation is with infantile-onset epilepsy and severe developmental delay. Non-classical phenotypes with movement disorders and early-onset absence epilepsy are increasingly recognized and the clinical spectrum is expanding. The hallmark is hypoglycorrhachia (cerebrospinal fluid [CSF] glucose<2.2 mmol/l) in the presence of normoglycaemia with a CSF/blood glucose ratio of less than 0.4. GLUT1DS is due to a mutation in the solute carrier family 2, member 1 gene (SLC2A1). We present five individuals (four males, one female), all of whom had a mild phenotype, highlighting the importance of considering this diagnosis in unexplained neurological disorders associated with mild learning difficulties, subtle motor delay, early-onset absence epilepsy, fluctuating gait disorders, and/or dystonia. The mean age at diagnosis was 8 years 8 months. This paper also shows phenotypical parallels between GLUT1DS and paroxysmal exertion-induced dyskinesia.
Subject(s)
Glucose Transporter Type 1/genetics , Glucose/cerebrospinal fluid , Adolescent , Carbohydrate Metabolism, Inborn Errors/cerebrospinal fluid , Carbohydrate Metabolism, Inborn Errors/diagnosis , Carbohydrate Metabolism, Inborn Errors/genetics , Carbohydrate Metabolism, Inborn Errors/physiopathology , Child , Child, Preschool , Diagnosis, Differential , Dystonia/genetics , Epilepsy, Absence/genetics , Female , Gait , Humans , Male , Monosaccharide Transport Proteins/cerebrospinal fluid , Monosaccharide Transport Proteins/deficiency , Monosaccharide Transport Proteins/genetics , Motor Activity , Mutation , Phenotype , Severity of Illness IndexABSTRACT
UNLABELLED: OBJECTIVE/PATIENT: Gas-containing encephalitis is rarely associated with neonatal meningitis. We report a case of a 19-day-old baby who presented with a rapid onset of septic shock complicated by progressively increasing gas accumulation within the brain and anterior chamber of the eye. We describe the evolution of the clinical picture and the management. INTERVENTIONS: Ventilatory support, fluid resuscitation, and continuous venovenous hemofiltration were provided in view of multiple system failure. Despite effective antibiotic therapy and supportive management, the patient died with worsening accumulation of gas within the brain, resulting in brainstem death. RESULTS: Computed tomographic images were characteristic of diffuse necrotizing meningo-encephalitis. Postmortem examination showed friable brain tissue with venous infarction and extensive gas accumulation. Citrobacter koseri was identified from the blood and cerebrospinal fluid cultures. CONCLUSION: This case re-emphasises the importance of C. koseri as both a community-acquired and nosocomial neonatal pathogen. Radiologic evidence suggestive of diffuse necrotizing meningo-encephalitis in combination with pneumocephalus and pneumatosis oculi in Citrobacter infections has never been described before. Diagnostic imaging with computed tomographic scanning of the brain and initiation of broad-spectrum antibiotics with good penetration into cerebrospinal fluid are indicated as soon as infection with Citrobacter species is suspected clinically, with appearance of pneumatosis oculi as a rare, late finding.