Dear Colleague,

I met the young Zoé DUPOND born on 01/01/2013. She is the daughter of Mrs. A. DUPOND, who is being followed for a mitochondrial disease.

Mrs. A. DUPOND has already undergone screening for this pathology, and we know that she carries the mutation m.3271T>C with a heteroplasmy rate of 48% in blood and 89% in urine.

Zoé has a history of bronchiolitis and recurrent otitis. She was recently diagnosed with scoliosis for which she is being followed in orthopedics by Dr. DRU.

Recently, an auditory assessment was performed by Dr. TUEC, which found bilateral hearing loss corresponding to moderate deafness for which a supplementary assessment by auditory evoked potentials has been requested.

In terms of development, Zoé is being followed by Dr. COALANE due to dyspraxia with concentration difficulties. She had benefited from psychomotor therapy sessions until Grade 1. She is also being followed by a psychologist.

Zoé will start Grade 4 next school year. A DSP file has been created with a request for a SEA and a computer.

Zoé has endurance difficulties and fatigue with exertion. Additionally, there are growth difficulties with a current weight of 29 kg (10th percentile) for a height of 123 cm (-2.5 DS). The neurological examination today finds pronounced kyphosis and also identifies dyspraxic elements.
There is no real deficit in motor strength. There is no cerebellar syndrome, and there is no ophthalmoplegia. The osteotendinous reflexes are present and symmetrical. Puberty has not started.

At the end of this consultation, I recommended performing a blood test for the follow-up of mitochondrial disease. This assessment has been complemented by an endocrine assessment and a radiograph of bone age.

The file will be discussed again with our colleagues in endocrinology to determine if it might be interesting to perform a growth hormone stimulation test.

Please accept, Dear Colleague, the assurance of my best regards.