RESUMO
Upper gastrointestinal (UGI) bleeding due to gastric ulcer and gastritis can be seen in severely ill or premature infants but is rarely reported in healthy term newborns. UGI endoscopy is crucial for the etiological evaluation and appropriate treatment of UGI hemorrhages. This report discusses the differential diagnosis and treatment approach in a previously healthy infant who was admitted to the neonatal intensive care unit due to life-threatening severe UGI bleeding causing hemodynamic instability.
RESUMO
Neonatal epilepsy syndromes are responsible for only 15% of the cases of neonatal seizure. An underlying genetic disorder can be detected in approximately 42% of this subgroup. KCNQ2 gene-associated epilepsies are very rare and more common presentations are self-limited familial neonatal epilepsy (SLFNE) and early infantile epileptic encephalopathies (EIEE). The most common initial seizure semiologies are tonic seizures with or without autonomic symptoms in EIEE resulting from KCNQ2 gene mutation. It is characterized by early neonatal onset seizures with suppression burst pattern on electroencephalogram and typically results in severe developmental delay. Therapeutic options for infants with KCNQ2-related EIEE are limited and there is no consensus about it in the literature. Herein, the neonate with EIEE with unexpected episodes of hiccups due to novel mutation of the KCNQ2 gene, which was reported second time, was presented and antiepileptic treatment strategies were discussed in the light of current literature.