++
Mental retardation associated with myopathy, facial
malformation, and seizures.
++
Puerto Rican Infant Hypotonia Syndrome.
++
Three cases
have been described; genetic inheritance unknown.
++
Features include myopathy, (congenital fiber type
disproportion, i.e., type I muscle fibers are significantly smaller than type II fibers
(normally about the same size), and a predominance of type I fibers by numbers
(normally about equal)), nonprogressive hypotonia, facial malformations (hypertelorism, broad nasal root,
long philtrum, mouth held open, high-arched and narrow palate, microdontia),
delayed bone age with abnormal ossification, pectus excavatum, seizures, and mental
retardation.
++
Direct laryngoscopy and tracheal
intubation could be difficult because of facial malformations. Avoid
anesthetic muscle relaxants until the airway has been secured. Evaluate
neurological function (clinical, history, CT/MRI, EEG). Consider interaction
between antiepileptic treatment and anesthetic drugs. Evaluate myopathy
(history, clinical, creatine phosphokinase); avoid succinylcholine and
halogenated drugs. Reduce neuromuscular blocking agent doses because of
hypotonia and use a peripheral nerve stimulator.
Qazi QH, Markouizos D, Rao C, et al: A syndrome of hypotonia,
psychomotor retardation, seizures, delayed and dysharmonic skeletal
maturation, and congenital fibre type disproportion. J Med Genet 31(5):405, 1994.