Abstract

GODOY TORALES, Gladys Maribel; RIENZI GRASSI, Rocio Raquel; ALDANA AMABILE, Alicia Carolina  and  CANO ARRIETA, Héctor. Ohtahara syndrome: a case presentation associated with Pierre Robin syndrome. Rev. Nac. (Itauguá) [online]. 2019, vol.11, n.1, pp.99-115. ISSN 2072-8174.  https://doi.org/10.18004/rdn2019.0011.01.099-115.

Ohtahara syndrome is an epileptic encephalopathy that starts early in life, characterized by intractable seizures, wave-suppression tracing, both in the sleep and a waking phases of the electroencephalogram, and associated with delayed motor and cognitive development. We present the case of a child, to the fifteen days of life referred to the Hospital Nacional, Paraguay, with is the days of like to rule out congenital heart disease, due to oxygen dependence. On admission, the facial appearance was coincident with Pierre Robin syndrome, laryngeal stridor, cervical hypotonia and micropenis was observed. Once admitted congenital heart disease was excluded by echocardiography. Respiratory failure and need for oxygen secondary to respiratory obstruction due to glossoptosis are assumed. Transfontanelar ultrasound reveals grade II intraventricular hemorrhage, cystic image in the posterior fossa, megacisternal versus neuroepithelial cyst. At 47 days, he presented tonic-clonic seizures in the limbs opisthotonos and position of, he was treated with valproic acid, then Vigabatrina, with no response. Electroencephalographic trace shows discharge-suppression pattern. Develops infection associated with health care from respiratory origen, presents poor management of secretions and torpid evolution, dying at 110 days. The case is characterized by epileptic syndrome in a patient with a phenotype corresponding to Pierre Robin syndrome; but also has micropene. The presence of the three mentioned fatures could not be included in a previously described syndrome. In newborns with dysmorphia and seizures it is important to rule out the presence of structural alteration in the nervous system as responsible for the syndrome.

Keywords : Congenital malformations; Ohtahara syndrome; Pierre Robin syndrome; Paraguay..

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