During a DH for an MRI of the brain and at the request of Dr. Aurélie VILLENEUVE, I met the young Camille DUBEAU born on 07/10/2019, who is being followed for a break in the head circumference growth curve.
Camille is the second child of the family, with a healthy brother. The mother has also had two early spontaneous miscarriages and one abortion.
The genealogical investigation reveals no consanguinity between Camille's parents.
However, Mr. DUBEAU's parents were first cousins. He himself is affected by a late-onset Friedreich's ataxia.
In his family, it is noted that his father is being followed for cardiac issues and a late myopathy of unknown etiology.
On the mother's side, who is an only child, there is mainly recently discovered hypertension in her father.
The head circumferences of the parents are within normal limits.
As for Camille, the pregnancy was without particularities. There were no toxic substance exposures or infectious episodes. She was born at 40 GA and 1 day with a weight of 3.5 kg (56th p), a height of 50.2 cm (48th p), and already a small head circumference of 32.1 cm (2nd p). The Apgar score was 9-9-10.
She presented reducible varus feet treated simply with physiotherapy.
Motor development has progressed normally with walking acquired at 13 months. According to the parents, she speaks very well, makes herself understood, and associates words. There is no delay on that side either.
What has alerted her various doctors is this head circumference curve that remained harmoniously at -2DS but with a clear break around 12 months, currently reaching -4DS at the age of 2. Currently, her weight is 10 kg, which is -1DS, with a height of 85 cm at -0.25DS and a head circumference of 41.5 cm at -4DS.
Morphologically, I note slightly low-set ears and somewhat oblique palpebral fissures. There are no anomalies of the extremities.
In total, evolving microcephaly appearing completely isolated.
Initially, I simply requested a study by DNA chip (CGH ARRAY) to not overlook any chromosomal microremodeling. Secondly, we may send DNA for a large panel of genes involved in these microcephalies if the result is normal. The realization of an exome with samples from both parents may also be discussed.
We will keep you informed of the follow-up.
Best regards.