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...
Nutrition is a major problem for the Rett patient. We have studied 21 girls with Rett syndrome (19 typical, two atypical). We report our experience in this population with the nutritional aspects of Rett syndrome, the typical dietary habits, and various nutritional deficiencies. Further experience with the use of high fat diets is reported.
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