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Glut1 Deficiency Syndrome (Glut1DS) results from impaired glucose transport into brain and presents with seizures, movement abnormalities, and developmental deficits. The only effective treatment is a high-fat, carbohydrate-restricted ketogenic diet providing ketones as an alternative fuel to the brain. The potential of ketogenic diets has recently been discussed in your journal [1]. Here we report a 24 year old woman with very mild cognitive impairment, a mild movement disorder and epilepsy. Glut1DS was confirmed at the age of six years by hypoglycorrhachia and a heterozygous pathogenic de novo missense mutation in the SLC2A1 gene (Thr137Ile). On a classical 3:1 ketogenic diet treatment she was seizure-free with significant improved endurance, cognitive and motor performance if blood ketones (3-hydroxy-butyrate) were above 2.0mmol/l. She experienced near continuous absence seizures and also dyskinetic movements if her ketones were below this threshold. However, despite achieving puberty at the age of 14 years, she had difficulties meeting her nutritional requirements because of persistent vomiting. All efforts to improve the tolerability of the ketogenic diet, as well as modifications of the diet, were unsuccessful. Her bone density and BMI continued to decrease and she developed more seizures and abnormal movements despite many nutritional manoeuvres. At a BMI of 15.2 a Percutaneous Gastrostomy (PEG) was suggested. It took three years before she came to terms with this option and following insertion of a gastrostomy her BMI improved to 18 within four months and with no evidence of biochemical derangements as a consequence of her rapid weight gain. Two years following this she remains on a classical 2:1 ketogenic diet with ketones consistently above her threshold of 2.0mmol/l, normal biochemistry, an improving bone density and a stable BMI of 18.6. She feels that it was a good decision, improving her quality of life by taking some of the stress out of meals, providing an alternative route for the delivery of fluids, food and medication, tailored to her ongoing needs. She has experienced less in the way of ictal events or dyskinesias since this time. A PEG is an established option in patients with feeding difficulties and severe cognitive impairment. It is, however, a difficult decision to suggest to a young, mildy impaired woman with high overall quality of life. Our patient, her caretakers, and the treating physicians felt very uneasy with this procedure. However, we felt that it was important to report that this measure improved the quality of life in our patient. We propose that in Glut1DS patients dependent on a ketogenic diet and a level of ketosis that otherwise that cannot be obtained, the option of a PEG should be offered early.

We investigated the efficacy of an anion-exchange adsorbent column (ASAHI BR-350, DIAMED) for removal of bilirubin and bile acids in five patients with intractable jaundice of various origin. Four litres of plasma were separated by membrane plasma separation (Plasmaflow OP-05) at a rate of 22.5 ml/min. The plasma was then perfused through an anion exchange adsorbent and returned to the venous blood line of the plasma separator. In some of the patients this procedure was combined with regular hemodialysis treatment. The concentration of total bilirubin was cut by 31 to 60%; total bile acids were reduced by 20 to 74%. Three patients recovered and had a favourable outcome. Two patients died despite the bilirubin adsorption treatment. The effects of the adsorbent column on specific blood parameters, including the coagulation system, were measured. Our data suggest that bilirubin adsorption should be examined further as a treatment for critically ill patients with intractable jaundice.

Purpose Tuberous sclerosis complex (OMIM 191100) is a multiorgan disease commonly associated with epilepsy refractory to anticonvulsants. Individual reports indicate that seizures in children with tuberous sclerosis might benefit from a ketogenic diet. We studied the effects of the diet introduced at 3.5 years of age in three boys with tuberous sclerosis and refractory partial seizures. Methods On admission a classical LCT ketogenic diet was initiated and patients were followed for 12 months. Antiepileptic drugs were maintained unless adverse effects required reduction. Results Two patients became seizure-free within 2 months on the diet. In the third patient drop attacks decreased significantly. On follow-up the diet was well accepted and without adverse effects. Conclusion The ketogenic diet should be considered as a treatment option for children with tuberous sclerosis and partial seizures refractory to anticonvulsants. Our data support the need for further studies in larger cohorts to confirm the effectiveness of the ketogenic diet in this entity.