Dear Colleague,
I have seen the parents of young PASCAL Eulalie, born 07/19/2014, in consultation again to share with them the results of the exome sequencing we performed in the family.
As a reminder, Eulalie presents with triple X syndrome (karyotype 47,XXX). I had explained to the family that this chromosomal anomaly can only partially explain Eulalie’s difficulties, but is not usually associated with problems as severe as those she presents, and does not a priori explain the vermian hypoplasia nor the malformative scoliosis (due to thoracic hemivertebra). 
We proposed to continue investigations with trio whole exome sequencing. This did not identify any pathogenic or likely pathogenic variant that could explain Alicia’s difficulties or malformations.
Here is an update on Eulalie today: 
Eulalie is in third grade, in a mainstream setting, with a SEA. She attends school in the mornings. For the next school year, she is scheduled to enter a SSP. 
From a child psychiatry perspective, Eulalie is on the waiting list for a consultation with a child psychiatrist at the Pierre Vengier Center to refine the diagnosis. She is currently being treated with RISPERIDONE. The visual and auditory hallucinations have improved. 
A brain MRI was performed in the context of chronic headaches. It was normal.
On clinical examination (age 9), Eulalie is 146 cm tall (+2 SD), weighs 50.1 kg (>99th percentile), BMI 23.5 kg/m² (>IOTF30), head circumference 52 cm (average). Cardiac auscultation was unremarkable. Cerebellar ataxia and dysmetria. Abdominal palpation was normal. On the skin, I noted a large isolated hypopigmented patch on the back. Examination of the extremities was unremarkable, the uvula is normal. Known right thoracic scoliosis.
In summary, exome sequencing did not identify any other cause for the difficulties and malformations presented by Eulalie. 
An assessment of the overweight is planned, and the child has been referred to pediatric endocrinology.
I leave it to the family to contact me to schedule a follow-up appointment in 1 to 2 years. 
In the meantime, I remain available to the family and to the professionals involved in her care if needed.
Yours sincerely,