HIDEA syndrome
|
Acronym for Hypotonia, hypoventilation, Impaired intellectual development, Dysautonomia, Epilepsy, eye Abnormalities.
Rare. Autosomal recessive transmission of a mutation of the P4HTM gene (3p21.31) coding for an enzyme in the prolyl4-hydroxylases family.
Clinical features:
- hypotonia
- hypoventilation: bradypnea, obstructive sleep apnea, frequent respiratory infections
- delayed intellectual development: absent or rudimentary speech, abnormal movements (frequent death due to pneumonia)
- dysautonomy: hypo- or hyperthermia
- epilepsy
- eye abnormalities: rotary nystagmus, strabismus, myopia, optic atrophy, pale ocular fundus, cortical blindness.
- sometimes: obesity, retrognathia, flat feet
Phenotype similar to ROHHAD syndrome (see this term).
Anesthetic implications:
epilepsy, mental retardation, central obstructive apneas, obesity; monitoring of the temperature
References :
- Lim AM, Tan PL, Visruthan NK, Fong N, Viegelmann GC, Tan IH et al.
HIDEA syndrome: A rare cause of congenital hypoventilation in a premature infant.
Pediatr Pulmonol 2022, 57 : 1826-9
Updated: November 2023