ABSTRACT
AIM: Glucose transporter 1 deficiency syndrome (GLUT1-DS) is an important condition for the general paediatrician's differential armamentarium. We describe a case series of eight patients in order to raise awareness of this treatable neurometabolic condition. The diagnosis of GLUT1-DS is suggested by a decreased absolute cerebrospinal fluid (CSF) glucose value (<2.2 mmol/L) or lowered CSF: plasma glucose ratio (<0.4). METHODS: This is a review of eight Queensland patients with GLUT1-DS. The clinical presentation, clinical course, laboratory investigations and treatment outcomes are discussed. RESULTS: The clinical features noted in our patient cohort include combinations of ataxia, developmental delay and a severe seizure disorder that is refractory to anticonvulsant medications. Seizures are the most common clinical manifestation and may be exacerbated by phenobarbitone. The paired CSF: plasma glucose results ranged from 0.2 to 0.39 (normal <0.6) with an average of 0.33. 3-O-Methyl-D-Glucose uptake and GLUT1 Genotyping analysis have been performed on five patients thus far. Rapid and impressive seizure control was observed in 100% of our patients once the ketogenic diet was instituted, with half of the cohort being able to wean completely from anticonvulsants. CONCLUSION: Children presenting with a clinical phenotype consisting of a refractory seizure disorder, ataxia and developmental delay should prompt the consideration of Glucose transporter 1 deficiency syndrome. While the diagnostic test of lumbar puncture is an invasive manoeuvre, the diagnosis provides a viable treatment option, the ketogenic diet. GLUT1-DS displays clinical heterogeneity, but the value of early diagnosis and treatment is demonstrated by our patient cohort.
Subject(s)
Ataxia/etiology , Brain Diseases, Metabolic, Inborn/diet therapy , Brain Diseases, Metabolic, Inborn/etiology , Developmental Disabilities/etiology , Glucose Transporter Type 1/deficiency , Seizures/etiology , 3-O-Methylglucose/pharmacokinetics , Anticonvulsants/therapeutic use , Brain Diseases, Metabolic, Inborn/diagnosis , Carbohydrate Metabolism, Inborn Errors/diet therapy , Carbohydrate Metabolism, Inborn Errors/etiology , Child , Diet Therapy , Female , Glucose Transporter Type 1/genetics , Humans , Infant , Lumbar Vertebrae , Male , Seizures/drug therapy , Spinal Puncture , Syndrome , Treatment OutcomeABSTRACT
Experimentation at the Lethbridge Research Center in Alberta, Canada using cross-polarized transmitted light to photographically record a staining technique on zymograms has proved to be successful with both color and black and white films. It has been possible to obtain the desired visible contrast without compromising the intensity of the enzyme activity bands. Increasing numbers of such PAGE gels are being submitted for photographic recording when it is believed that the image will be used for records, publication, scientific posters or AV presentations.
Subject(s)
6-Phytase/analysis , Electrophoresis, Polyacrylamide Gel/methods , Microscopy, Polarization , Immunoenzyme Techniques , Microscopy, Polarization/instrumentation , Negative Staining , Sensitivity and SpecificityABSTRACT
Total parenteral nutrition (TPN) with fat and/or glucose as the caloric source is associated with a decrease in pulmonary metastasis in mice bearing subcutaneously implanted Lewis lung carcinoma. Five groups of white mice bearing Lewis lung carcinoma were assigned to receive various isocaloric and isonitrogenous oral and parenteral feedings: TPN, utilizing all nonnitrogen energy from glucose; per os, utilizing all nonnitrogen calories from glucose; electrolyte, utilizing nonnitrogen calories provided from a balanced casein diet and receiving an isovolemic infusion of electrolytes in the same composition as the TPN formula; 1/4 normal saline, also consuming the casein diet and receiving an isovolemic infusion of 1/4 normal saline; and an oral casein control (CON) without infusion. Results showed that there were no significant differences in tumor volume changes or tumor doubling time among the groups. However, tumor weight was significantly lower in groups receiving the TPN solution either orally or parenterally in comparison to the oral casein control. Pulmonary metastases were significantly lower in all parenteral groups, irrespective of solution composition, compared to the CON group. Thus it appears that parenteral fluid load rather than composition of the solution is the causative factor for the decrease in pulmonary metastases.
Subject(s)
Carcinoma, Squamous Cell/secondary , Lung Neoplasms/secondary , Parenteral Nutrition, Total , Administration, Oral , Animals , Body Weight , Carcinoma, Squamous Cell/pathology , Carcinoma, Squamous Cell/therapy , Diet , Infusions, Intravenous , Lung Neoplasms/prevention & control , Mice , Neoplasm TransplantationABSTRACT
A study of 100 Day Hospital patients showed that 26 elderly patients with mild Senile Parkinsonism and varying degrees of dementia had subclinical tremor with the same frequency as Parkinson's Disease and distinguishable by amplified recordings from those of Parkinson's Disease and Senile Tremor. A significant history of cerebro-vascular disease was obtained in one-half of these patients. The recording of tremor is shown to be of value in diagnosing Parkinsonism and in assessing response to treatment.
Subject(s)
Dementia/diagnosis , Parkinson Disease/diagnosis , Tremor/etiology , Diagnosis, Differential , Humans , Tremor/chemically inducedABSTRACT
Four patients developed postural tremor after ingestion of sodium valproate. The tremor was recorded by a variable-capacitance transducer and was of the "benign essential" type. The dosages of sodium valproate varied between 1000 mg and 2000 mg daily and serum levels were between 34.9 microgram per milliliter and 154.3 microgram per milliliter. Tremor was ameliorated in two cases when the dosage was reduced. In only one case was the serum level in the toxic range for our laboratory. The pharmacology of essential tremor is unknown; production of a similar tremor by a drug could serve as a biochemical model.
Subject(s)
Tremor/chemically induced , Valproic Acid/adverse effects , Adult , Electrophysiology , Humans , Male , Middle Aged , Transducers , Tremor/physiopathology , Valproic Acid/administration & dosageABSTRACT
Treatment of patients suffering from senile dementia with meclofenoxate has been reported to result in an improvement in mental performance. Furthermore meclofenoxate reduces the amount of lipofuscin pigment in nerve cells. We have shown that, although nerve cells in a group of demented patients have decreased amounts of cytoplasmic RNA and reduced nucleolar volume, they contain no more pigment than do cells of a control group. It seems, therefore, unlikely that removal of lipofuscin, per se, has any bearing on this reported improvement in intellectual capability, nor is it implicated in the aetiology of senile dementia.
Subject(s)
Dementia/metabolism , Lipofuscin/analysis , Pigments, Biological/analysis , RNA, Ribosomal/analysis , Aged , Aging , Cell Nucleolus , Dementia/drug therapy , Dementia/pathology , Female , Humans , Male , Meclofenoxate/therapeutic useABSTRACT
A simple, inexpensive method of recording tremor, using a variable-capacitance transducer, is described. Technical details of the transducer are given, along with examples of tremor traces illustrating the transducer's ability to monitor parkinsonian patients during drug therapy.
