[MIM 612 674]

(Fiskerstrand-type peripheral neuropathy)

Acronym for demyelinating Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa, and Cataracts.

Extremely rare. Autosomal recessive transmission of a loss-of-function mutation of the ABHD12 (aβ-hydrolase domain-containing protein 12) gene (20p11.21), coding for lyso-phosphatidylserine lipase, an enzyme involved in endocannabinoid and lipid metabolism. The mutations appear to cause neuroinflammation in the glia. 

This pathology has a slowly progressive course (first signs in childhood or adolescence) and variably associates

-        progressive hearing loss (86 %)

-        demyelinating sensory-motor polyneuropathy in the extremities (91 %): paresthesia, muscle weakness, hollow feet

-        retinitis pigmentosa (84 %): night blindness, progressive loss of vision

-        cataracts (86 %), sometimes congenital

-        cerebellar ataxia with dysarthria (71 %); cerebellar atrophy on MRI.

Differential diagnosis includes mitochondrial cytopathies, Usher syndrome, Refsum disease, a demyelinating form of Charcot-Marie-Tooth disease or Friedreich's ataxia.

Anesthetic implications:

sensitivity to non-depolarizing mucle relaxants ?

References :  

-        Dias Bastos PA, Mendonça M, Lampreia T, Magriço M, Oliveira J, Barbosa R.
PHARC syndrome, a rare genetic disorder : case report. 
Movement Disorders Clinical Practice 2021; 8(6): 977-9.

-        Silva MC, Bernardino A, Vieira AL.
Anesthetic management of two patients  with PHARC syndrome : case report.
A&A Practice 2024 ; 18 : e1872

-        Harutyunyan L, Callaerts P, Vermeer S.
PHARC syndrome: an overview.
Orphanet Journal of Rare Diseases 2024 ; 19:416 doi.org/10.1186/s13023-024-03418-0

Updated: December 2024