Dear Colleague,
I met with your patient, Mr. Marc HÉTU born on 11/11/1991, in a genetics consultation on December 22, 2022, at the request of Dr. Clementine DU TRIEUX, accompanied by his partner. I am seeing him because he has presented two peripheral neurological episodes suggesting a Parsonage Turner syndrome.
I will briefly review the family history. He has no children, has two healthy sisters, one of whom has type I diabetes and has three healthy children; his other younger sister has no children and is in good health. There are no notable neurological antecedents in his parents or in the more distant family.
He himself has no notable antecedents aside from allergies and asthma.
Last year, after several months of muscle-type pain in the shoulder, he discovered a winged scapula by chance. This winged scapula was strictly unilateral on the left side. He then benefited from targeted physiotherapy with progressive improvement.
He underwent an EMG which turned out to be normal.
He presented a deficit in shoulder abduction at 90°. No significant pain.
Last August, he experienced an episode of pain in the elbow, radiating to the hand and sometimes to the shoulder, treated with some efficacy by GABAPENTIN. Following this painful episode, he presented a deficit in the flexion of the first three fingers of the left hand. He has recovered flexion in the middle finger but not yet in the index and thumb. This recurrence has suggested a possible Parsonage Turner syndrome.
We discussed with the patient the interests and limitations of genetic testing. There is a gene named SEPT9 that can be mutated in Parsonage Turner syndromes, but this is not always the case. When a mutation is found, it means that the patient has a slightly higher risk of recurrence, although this is not certain.
This is an autosomal dominant pathology, and when a mutation is found, it is often useful to perform a blood test on the parents or direct relatives.
However, even when no mutation is found, this does not exclude the diagnosis, which remains clinical since not all genes are certainly known.
I will also provide a certificate for possible emergency care in case of recurrence to avoid delaying corticosteroid treatment, which is currently recognized as the treatment to try to limit sequelae, even if the treatment works variably depending on patients and episodes.
Mr. HÉTU agrees to undergo a blood test today. He will be contacted with the results. The result can be delivered via teleconsultation with his consent.