PEHO syndrome
Encyclopedia
PEHO syndrome is a progressive encephalopathy
with edema
, hypsarrhythmia
and optic atrophy. It is a very rare disease
, one of the Finnish heritage disease
s, and has been reported also in Dutch and Swiss infants.
It has been suggested that it may also be present in Australian populations.
Encephalopathy
Encephalopathy means disorder or disease of the brain. In modern usage, encephalopathy does not refer to a single disease, but rather to a syndrome of global brain dysfunction; this syndrome can be caused by many different illnesses.-Terminology:...
with edema
Edema
Edema or oedema ; both words from the Greek , oídēma "swelling"), formerly known as dropsy or hydropsy, is an abnormal accumulation of fluid beneath the skin or in one or more cavities of the body that produces swelling...
, hypsarrhythmia
Hypsarrhythmia
Hypsarrhythmia is an abnormal interictal pattern, consisting of high amplitude and irregular waves and spikes in a background of chaotic and disorganized activity seen on electroencephalogram , frequently encountered in an infant diagnosed with infantile spasms, although it can be found in other...
and optic atrophy. It is a very rare disease
Rare disease
A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear...
, one of the Finnish heritage disease
Finnish heritage disease
A Finnish heritage disease is a genetic disease or disorder that is part of the Finnish disease heritage. Finnish heritage diseases are significantly more common in people whose ancestors were ethnic Finns, natives of Finland and Sweden. About 40 rare diseases are regarded as Finnish heritage...
s, and has been reported also in Dutch and Swiss infants.
It has been suggested that it may also be present in Australian populations.