Dear colleague,
We saw on 25/07/2023 in genetic consultation Mrs. DURE Doreille, born on 25/07/1976, in the context of bilateral sensorineural hearing loss with a history of epilepsy. We are referring her today to perform a new sample for analysis of the gene panel involved in hearing loss, conducted by CHU Lille.
For reference:
Mrs. DURE has had disabling sensorineural hearing loss since the age of 15, initially mild and asymmetric. The first explorations included an MRI and a CT scan of the temporal bones, a renal ultrasound, an ECG, and the search for proteinuria. This assessment returned normal.
Mrs. DURE has also had three seizures since adolescence, now treated with Lamictal, with the clinical description suggestive of atonic seizures and atypical absences.
Her father, who is hearing, is being followed for atypical schizophrenia, for which an etiological assessment is ongoing with recent suspicion of Lewy body dementia.
Her mother has no history other than type 1 diabetes, insulin-dependent since the age of 23.
Since the last genetic consultation:
Mrs. DURE mentions a significant worsening of her hearing, now severe bilaterally, for which fitting would be difficult to adapt. She does not report vertigo but has permanent tinnitus.
Regarding epilepsy, there have been no more atonic seizures since the introduction of Lamictal, but there may still be persistent absences possibly occurring multiple times a day for which we request an electroencephalogram today.
On the social level, the ALD and CDPM files are up to date.
Genetic exploration:
The study of the GJB2 and GJB6 genes, the only genes explored at the time, returned normal.
Clinical examination today:
Mrs. DURE weighs 55 kg, measures 155 cm, and has a head circumference of 54 cm.
Her osteotendinous reflexes are normal. There is no Babinski or Hoffmann sign. There is doubt about ankle stiffness. There are no cogwheel rigidity signs in the upper limbs. Notably, there is a slight right nystagmus in horizontal gaze.
Heart sounds are regular without murmurs. There are no signs suggestive of branchial anomalies, notably no pretragial fibrochondroma, no preauricular or cervical fistula.
Follow-up care:
We propose today to continue genetic explorations by analyzing a panel of genes involved in hearing loss, conducted by Lille University Hospital. The consent is explained, signed, and a new blood sample is taken from the patient.
In summary:
Mrs. DURE presents with progressive bilateral sensorineural hearing loss, now severe, associated with epilepsy treated since childhood. We request a new EEG and a neurological opinion due to suspicion of persistent absences.
On the genetic level, we are resuming the analysis of a panel of genes involved in hearing loss, conducted by Lille University Hospital. These analyses could take several months, and we will not fail to contact the family for the results report. We remain at your disposal for any further information.
Best regards,