Dear Colleague,

I met with the child Valérie PEVANU, born on 07/06/2016, for an etiological assessment of a neurodevelopmental disorder and to resume follow-up. The family has recently moved to the region.

Family history:
Valérie is the eldest of three siblings. She has a younger brother, born in 2018, and a younger sister, born in 2020. The latter two appear to have developmental milestones within normal limits.

Her mother is being followed for Hashimoto's thyroiditis. She is a bookseller; she had a normal education. She is an only child. Her parents are farmers; her father is being followed for an ENT cancer, and her mother for breast cancer. She does not report any history of neurodevelopmental disorders in her family.

Her father is being followed for HBP. He is a computer engineer, after a Master's degree. He has a sister who has two children, with no reported health issues. Her father is deceased (suicide). Her mother is in good health. Similarly, there are no reported histories of neurodevelopmental disorders in his family.

The couple is not related.

Personal history:
Pregnancy without particularities. Birth at 40 weeks gestation, vaginal delivery. Birth weight 3250 g (40th p), birth height 49 cm (34th p), HC at birth 34 cm (37th p). Apgar 9-10.
The first seizures began around 6 months of age, initially focal seizures, then generalized tonic-clonic seizures. She has approximately one seizure per month, despite antiepileptic treatment (worsening under valproic acid; currently on levetiracetam and lamotrigine). MRI was apparently unremarkable (performed at age 3).
She walked around 24 months. Similarly, the first words appeared around 24 months, and associations were noted for the first time around 2.5 years.
In terms of schooling, she repeated the last year of kindergarten this year. A placement in the specialized support program is planned for next year. She is receiving physiotherapy and speech therapy, with one session of each per week.

Clinical examination (5.5 years):
Weight 20.5 kg (75th p), height 118 cm (+1 DS), HC 47 cm (-2.5 DS; -1 DS at 2 years, -2 DS at 4 years). The examination of her gait reveals balance disorders, with an ataxic gait. I also find a slight dystonia and the already known dysarthria. Reflexes are present and symmetrical. There is no motor deficit. The rest of the examination is unremarkable.
I am organizing a day hospital to perform a follow-up EEG and to schedule a biochemical assessment with a lumbar puncture, as this has apparently never been done. I will also retrieve the medical file from the team that was following her. We will review with these examinations if any etiological orientation emerges, as well as to adapt the antiepileptic treatment.
We will therefore reassess during this day hospital.
Please accept, Dear Colleague, the assurance of my best regards.