PEHO syndrome: a study of five Argentinian patients

We describe two familial and three nonfamilial cases from Argentina, examined between February 1, 1990-July 31, 2008, who met the diagnostic criteria of progressive encephalopathy, peripheral edema, hypsarrhythmia, and optic atrophy syndrome. All five children were products of normal gestation, although one was premature. Birth was uneventful in all patients. Two patients were twin brothers. During their first neurologic examination, between ages 2-6 months, patients presented with facial dysmorphia, poor visual contact, and generalized hypotonia with poor head control. Microcephaly and swelling of the dorsum of the hands and feet were evident. Hypsarrhythmia was observed in all patients (associated with epileptic spasms in four). Optic atrophy was evident in four cases. Magnetic resonance imaging indicated progressive cerebellum and brainstem atrophy in all cases. Toxoplasmosis, others, rubella, cytomegalovirus, herpes (TORCH), neurometabolic investigations, and karyotype studies produced normal results in all patients. Progressive encephalopathy, peripheral edema, hypsarrhythmia, and optic atrophy syndrome should be considered in infants with neonatal hypotonia, early onset of seizures (especially epileptic spasms), hypsarrhythmia, early loss of visual fixation, profound psychomotor retardation, typical dysmorphy, and progressive cerebellar and brainstem atrophy without a clear etiology. Autosomal recessive inheritance is suspected. Early diagnosis is important for adequate genetic counseling.