[MIM 260 565]

Acronym for Progressive encephalopathy, Edema, Hypsarythmia and Optic atrophy.

Prevalence estimated at < 1.106 but of 1/78,000 in Finland. Neurodegenerative disorder that belongs to the group of infantile progressive encephalopathies. Transmission is autosomal recessive. The cause is unknown but the CSF contains a high nitrite, nitrate and NO concentration.

Evolution:

-        first month: hypotonia, abnormal movements, difficulties for feeding

-        during the first year: hypsarrhythmia and seizures

-        in early childhood: vision loss and atrophy of the optic nerve

Clinical picture:

-        microcephaly, severe intellectual deficit

-        edema of the extremities and tapered fingers

-        facial dysmorphism: face in the form of pear with a narrow forehead, full cheeks, a self-effacing chin; open mouth, epicanthus, prominent ears, short nose with anteverted nostrils.

MRI: atrophy of the cerebellum and the brain stem.

The prognosis is poor: death normally prior to age of 15 years in a context of inhalation pneumonia.

Anesthetic implications:

epilepsy, microcephaly, risk of inhalation during the induction and the awakening phases

References : 

-         Marshall B, Turner M, Lobo S.
Anaesthetic management of a child with PEHO syndrome.
Anaesthesia Cases 2013; 78-80

-        Riikonen R.
The PEHO syndrome.
Brain Dev 2001; 23: 765-9.

Updated: January 2021