Dear colleague,
I am seeing again the child Marc HIERT, born on 08/10/2023, accompanied by his two parents, for follow-up of an unclassified neonatal epileptic encephalopathy.
As a reminder, Marc has been followed since the neonatal period for severe epilepsy, which was declared at 2 days of life, and is pharmacoresistant. The explorations already performed (extensive metabolic workup, CGH-array, rapid circuit exome, mitochondrial DNA, MRI) did not reveal the etiology of the encephalopathy. I am presenting today the results of the trio genome, which is also returned without particularities.
Marc is now 12 months old. I do not revisit the aspects of epilepsy, which are detailed in Dr. FERAN's letter, a pediatric neurologist. The epilepsy remains difficult to control despite a triple antiepileptic therapy. The implementation of a ketogenic diet is discussed.
In terms of neurodevelopment, he follows with his gaze, he has held his head up for 1 month, but tires quickly. Oral feeding remains difficult. No complications from the gastrostomy.
He is followed in psychomotricity twice a week, and in speech therapy once a week. A new car seat has just been delivered.

Clinical (1 year):
Height -1.5 SD. Weight -1 SD. Head circumference -3 SD. Weak but present osteotendinous reflexes. Axial and peripheral hypotonia. 2 café-au-lait spots, centimeter-sized, on the right thigh and supraumbilical. No notable morphological particularities. Cardio-pulmonary examination without particularities. Clean gastrostomy button.
To continue the etiological investigations, I propose today to include Marc in a research project dedicated to diagnostic dead ends, with RNAseq and long-read genome. The parents agree to pursue genetic explorations through this means, and I have them sign the consents for inclusion in the ULTRA project.
I will see the family again in consultation with the results of these new examinations, but I have warned them that it may take time. In the meantime, the follow-up of the epilepsy is continued by the pediatric neurology team, and the medico-social follow-up by the pediatric rehabilitation team.
I remain at your disposal for any additional questions.
Best regards,