The PEHO syndrome (progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy) is a rare autosomal recessive neurodegenerative disorder that presents in infancy with hypotonia, seizures, peripheral oedema, characteristic dysmorphic features, and poor visual response. It is characterized by extreme cerebellar atrophy due to almost total granule neuron loss. A missense mutation in ZNHIT3 was identified as the primary cause of PEHO syndrome.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H02252 PEHO syndrome
Anttonen AK, Laari A, Kousi M, Yang YJ, Jaaskelainen T, Somer M, Siintola E, Jakkula E, Muona M, Tegelberg S, Lonnqvist T, Pihko H, Valanne L, Paetau A, Lun MP, Hastbacka J, Kopra O, Joensuu T, Katsanis N, Lehtinen MK, Palvimo JJ, Lehesjoki AE
Title
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
