Information regarding the patient’s disease
Robert Miotke born 05.04.2013 r
Parents, young, healthy, unrelated. First pregnancy – born the son, 3 years old, healthy. Father-brother died in 14’th month of life, he also had seizures but developed properly. Moreover he had recurrent infections of the upper and lower respiratory tract.
Robert – 2nd pregnancy; 2nd delivery (in the third trimester of pregnancy were found Maternal hypothyroidism, Euthyrox included). Vaginal delivery on time, weight 3335g, length 53, head circumference 37cm, on 9p.Apgar.
The development of the child until 4’th month of life was totally correct.
Since July 2013, a week after vaccination, at 13 weeks of age, infantile spasms (in clusters) have ocurred, the clusters: 8-9 per day; about 20 seizures in one cluster.
The EEG: hypsarrhythmia, supression-burst type.
Hospitalized in the Department of Developmental Neurology in Gdansk. Synacthen enrolled at a dose of 0.25 mg /d . After 4 days of such a treatment, control of seizure was gained. After approx. 5 weeks spasms returned. Next treated sequentially Sabril (VGB), Convulex (VPA), Topamax (TPM), Frizium (Clobazam), Keppra (LEV), Nitrazepamem (NZP) and Lamitrin (LTG) without therapeutic effect. Regression of psychomotor development is observed. In March 2014 Robert received a 5-day infusion of Solumedrol 250mg-no effect. For five months on the ketogenic diet, moreover, replaced periodically (for now 2 times) immunoglobulin IVIg.
When Robert started the diet, there was a slight improvement in the functioning, but still persist infantile spasms and myoclonic seizures both single and in clusters (up to a dozen in the cluster), tonic seizures, and even the occasional tonic-clonic seizures.
Additional tests: MRI head- correct, the level of glucose in CSF 49mg% -not confirmed the presence of a mutation in the gene encoding the glucose transporter GLUT-1. Normal karyotype. The test matrix showed no genetic changes in the number of genes.
Research MS/MS, GC/MS, ENG, VEP, ABR, and abdominal ultrasound – correct.
Physical examination of the child 18 months. Body weight 12,000g.
Good general condition, since the implementation of the ketogenic diet , improved eye contact with investigating person was observed. Child is able to follow with eyes the moving objects. Significantly delayed psychomotor development: large-motor skills very poor (do not sit, seated not able to sit by himself, not able to get up and stand) however,during ketogenic diet began to twist from side to side only in the supine position; small motor skills: does not grab, does not reach; poor babbles. Axial hypotonia, contractures in the knee joints, poor spontaneous motility improving along with the continuance of the diet.
Epilepsy of unknown etiology, drug-resistant form of the West syndrome. Regression of psychomotor development. No dysmorphic characteristic typical for the most common diseases with refractory epilepsy. Family history of epilepsy.