Therapeutic effects of a ketogenic diet in rett syndrome

Abstract

Seven girls (age 5 to 10 years) with Rett syndrome were investigated extensively. In 6 patients elevations of blood pyruvate were found. Blood lactate levels were marginally elevated. Two patients had variably elevated blood glucose levels. Metabolic studies were otherwise normal apart from minimally elevated blood ammonia levels in 3 of 5 patients tested, 2 of whom were on valproic acid. All 7 patients had anticonvulsant resistant seizures. multifocal spike wave discharges, and pseudo-periodic burst-suppression patterns during sleep. Respiratory monitoring revealed apneic episodes only during the waking record. Six patients were below the 5th centile for weight despite normal caloric intake. Treatment with ketogenic diets, using medium chain triglyceride (MCT) oil when possible, has improved seizure control in the 5 patients who could tolerate the diet. and motor improvement has occurred in these 5 patients and 6 of 7 ptients on high fat diets have gained weight. With a possible defect in carbohydrate metabolism and a difficult seizure disorder, use of a ketogenic diet is EEG changes included generalized slowing and (1985) reported reduced CSF biogenic amines in 6 patients. reported by Phillipart and Brown (1984). Six of 15 girls with Rett syndrome were reported with the fraW(p22) abnormality (Gillberg et al, 1984). We recently reported an elevation of blood pyruvate and a mild elevation of blood lactate in 6 patients maas and Rice, 1985). Seizures are a prominent manifestation of Rett syndrome patients an6 may well contribute to the symptomatology, encephalographic seizure activity is almost universal although clear cut clinical manifestations are less apparent, metabolism and the intractable seizure disorder, we have used the MCT ketqenic diet first introduced by Huttenlocher (1976). We reprt our experience with this therapeutic approach. Three others had mildMild lactic aeidemia was E. R is a 10-year-016 Caucasian girl. She presented as a short, thin child (height, weight and head circumference (OK) below the 3rd centile) with severe mental retardation, no language, spastic quadriparesis and scoliosis. Repetitive "hand-washing" movements, a history Ketogenic Diet in Rett Syndrome 227 of air swallowing and abdominal distention, hyprventilation and apnea, cold discolored feet, bruxism ana pubic hair development were other characteristics. Pregnancy alcl birth history were normal; birth weight was 3.66 kg. The mother had had one spontaneous abortion and there is one normal 14-year-old sister. At 3 months E.R was a sociable baby with good head control, ai 6 morkhs she rolled and scooted arouna the floora arm was aDle to sit up on her own at 8 months. Ey 11 months motor delay was noted as she was r i a crawiii-lq. She was vocalizing, but never said clear words. At age 16 1/2 months she would reach for objects and trznster t b w f x l n 5?ar-m-to-hana, she could hold her own bottle and could stand with support. OFC was D e i o w tne j r a ccntile and weiqht on the 25th centiie. Development leveled-off the...

Longitudinal course of epilepsy in Rett syndrome and related disorders

“…Based on previous publications, medication use is largely based on regional prescribing practices rather than efficacy or adverse effects (Bao et al, 2013;Pintaudi et al, 2015). Although cases and retrospective studies document efficacy of specific medications in Rett syndrome, no systematic study has demonstrated superiority of a specific medication or class of medications to treat epilepsy in Rett syndrome (Haas et al, 1986;Kumandas et al, 2001;Goyal et al, 2004;Specchio et al, 2010). No specific medications are contraindicated in Rett syndrome; however, the issue of bone health is an important consideration when prescribing anti-seizure drugs.…”

Clinical trials and treatment prospects

“…To date, no longterm study using L-carnitine has been reported. Haas et al [1986] employed the ketogenic diet in an uncontrolled study of seven girls with RS. The diet composition provided fats in the form of medium chain triglycerides.…”

The ketogenic diet improves recently worsened focal epilepsy

“…Special interest has been given to various conditions associated with epilepsy including myoclonic astatic epilepsy, 5,9 infantile spasms, 7 Dravet syndrome, 10 atypical absences, 11 acquired epileptic aphasia, 12 tuberous sclerosis, 13 and Rett syndrome. 14,15 One study found slightly better results in generalized as opposed to focal epilepsy although this was not significant. 16 Lack of complex focal seizures was reported as a predictive factor for early, complete, and sustained response.…”