Female patient, non-consanguineous parents, with no relevant perinatal history; birth weight of 3-450 g, height of 49.5 cm and skull circumference of 35.2 cm. Apgar 9, at
At one and a half months of age, the patient presented generalized tonic-clonic seizures of seconds duration, evolving to 20 myoclonus per day, with spasms in flexion added.
She received pharmacological treatment with valproic acid, fenobarbital and carbamazepine, without clinical response, triggering an adverse reaction to valproic acid with symptomatic hyperammonaemia.
At 3 and half months of age tests were performed to rule out a metabolic disease, finding a lactacidemia of 26.5 mg/dl (VN: 5-15), decrease of lactate in CSF of 5.6 mg/dl.
Pyruvic acid in plasma was increased (1.4 mg/dl) (VN: 0.3-0.9), but CSF was normal (0.43 mg/dl) (VN: 0.5-1.7) and amonaemia was 85 μg.
The quantification of amino acids in serum, acylcarnitine in whole blood, urinary organic acids and serum carnitine were normal.
At 5 months, the electroencephalogram (EEG) detected a continuous polymorphic theta-delta activity, considered abnormal for the frontal lobe and magnetic resonance imaging showed an increase in subarachnoid spaces.
Psychomotor development retardation and deceleration of cranial growth, trunk ataxia and bilateral pyramidal syndrome were observed.
After 7 months, the patient was admitted to the Children's Hospital of Boston, USA with an overestimation of glucose in CSF of 26 mg/dl and normoglycemia (84 mg / dl), with a normal glucose ratio between 0.365 mg / dl),
It has been shown that the protein Glut-1 in erythrocyte is identical to the protein Glut-1 of endothelial cells of brain capillaries, both in immunological and chemical response.
For this reason, the transport of glucose into the erythrocyte is comparable to the transport of glucose through the hematoencephalic barrier.
Considering this finding, the 3-O-methyl D glucose technique was developed, which determines the uptake of glucose by the erythrocyte, allowing extrapolation with the transport of glucose in the blood-brain barrier segment 11.
In our case, this technique was applied, obtaining a glucose uptake of 44% (VN 80%-100%), confirming a SDGLUT-1.
Molecular analysis was performed using polymerase chain reaction (PCR) and restriction fragment length polymorphism analysis (RFLP)3.6, determining the mutation of upo deletion 969, C971 gene.
1.
Single emission computed tomography (SPECT) showed thalamic, left parietal and bilateral temporal hypometabolism.
The ketogenic diet was immediately initiated, providing 90 calories per kilo of weight, with 85% lipids, 9% protein and 6% protein based on the Chilean protocol, with a ratio of 39.1:1 between lipids and IN more.
The diet prohibits foods with sucrose, sorbitol for lactose (1kg and restricts the consumption of lactose, reason why it was necessary to supplement with calcium (450 mg/day), zinc (5 mg/day), lipids, especially calcium (50 mg/day).
Seven days after starting the ketogenic diet, the seizures disappeared and the anticonvulsant drugs were reduced together.
Currently she is 6 years old, maintains the ketogenic diet with 83% lipids (27% of them corresponds to medium chain triglycerides) and 17% protein plus carbohydrates (ratio 2.5:1).
Nutrient supplementation is the same as at baseline, and has been adjusted according to age and nutritional status.
Glycemia is maintained in values of 80 to 90 mg/dl, total cholesterol in 187 mg/dl, HDL in 55 mg/dl and LDL in 121 mg/dl. Calciuria plasma electrolytes and biochemical profile are normal.
The fasting beta hydroxybutyrate acid is 2.5 μM/1 and postprandial 5.0 μM/l, considering ketogenesis when this value is above 2.0 μM/1.
Neurological examination revealed an overactive behavior in his mental examination.
The cranial nerves present dysarthria and facial hypomymia.
The motor examination showed trunk and extremities tone, with no impairment of strength or decreased muscle spasm.
In the cerebellar examination there is a fine tremor of intention, presence of synkinesis, dysmetria and discrete dysdiadochokinesia.
Gait is defined as an increase in the support base, without lateralization.
Its intellectual coefficient (IC), assessed by the Wechs-ler preschool intelligence test (WISP)12, obtained a total CI of 103 points, upper limit of the average normal range, corrected according to American standards.
However, there is a significant discrepancy between the verbal and manual scales, regardless of the latter (verbal IC: 119, high normal and manual IC: 85, slow normal), which translates into specific visuospatial difficulties.
The nutritional status is normal: body mass index of 15.8 kg/m2 (VN between 15 and 18 kg/m2)13, with weight (21 kg) for age and height Center for Health Statistics reference 75 percentile.14 m)
