HYBRID EVENT: You can participate in person at Orlando, USA or Virtually from your home or work.

6th Edition of International Conference on Neurology and Brain Disorders

October 24 -26, 2022

October 24 -26, 2022 | Orlando, Florida, USA
INBC 2022

Agouni Chaima

Speaker at Neurology and Brain Disorders 2022 -  Agouni Chaima
CHU Constantine, Algeria
Title : How far Can clinical diagnosis really go? A patient with PHARC syndrome.


Introduction :

PHARC is an acronym that describes the major features of an early onset neurodegenerative disease marked by Cataract, Hearing loss, Retinitis pigmentosa and involvement of central and peripheral nervous systems, including sensorimotor PolyNeuropathy and cerebellar Ataxia.

It is an autosomal recessive disorder caused by mutation in the ABHD12 gene.

Method :

A 51 years-old Algerian man presented for evaluation of a 2 years history of progressive gait difficulty. There was consanguinity between the parents.

On examination:

•   Slurred speech.

•   Horizontal gaze nystagmus.

•   Dysmetria and severe gait ataxia.

•    Manual muscle testing revealed 1/5 weakness of bilateral gluteus maximus muscles and 3+/5 weakness of bilateral hip abductor and adductror muscles.

•    Vibratory perception was diminished in the toes and ankles.

•    Ankle reflexes were absent. Romberg test was positive.

CSF examination results were unremarkable. Ophtalmologic assessement using a dilated-pupil fundus examination revealed bilateral incipient cataracts. Brain MRI was normal. Electrodiagnostic studies showed an axonal sensorimotor polyneuropathy. Audiologic assessment revealed a sensorineural hearing loss.

Discussion :

The clinical presentation of PHARC syndrome comprise from the complete clinical syndrome to cases mimicking Usher syndrome.

In our patient, further ophthalmological assessment with visual evoked potentials (VEP) and electroretinography (ERG) is needed as it may lead to the diagnosis of pigmentary retinopathy.

Polyneuropathy phenotypes associated with PHARC syndrome are highly variable. Eventhough in most cases it is a demyelinating polyneuropathy, our patient had an axonal sensorimotor polyneuropathy.

Clinically, PHARC shares many overlapping features with Refsum disease  such as progressive vision loss, degenerative nerve disease, and ataxia. However, Refsum often includes additional features such as ichthyosis, anosmia and elevated phytanic acid levels.

Although PHARC is rare & its phenotype is very characteristic, performing genetic analysis for ABHD12 gene mutations is key to confirm a suspected diagnosis of PHARC syndrome.

Conclusion :

PHARC is a neurodegenerative disease caused by mutations in the ABHD12 gene that tends to involve both the central and peripheral nervous system. It is highly variable in symptom presentation. Genetic testing for PHARC is needed whenever patients present with this clinical constellation of symptoms.

Key-words :

PHARC, Ataxia, Polyneuropathy, Hearing loss



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