Publications by authors named "Anca Denisa Baloi"
Maedica (Bucur)
June 2023
Article Synopsis
- Lesch-Nyhan syndrome (LNS) is a rare genetic disorder caused by a mutation in the HPRT1 gene on the X chromosome, leading to symptoms such as dystonia, developmental delay, hyperuricemia, and self-harm.
- A case study of a 20-month-old boy with LNS revealed that his epileptic seizures were initially mistaken for sleep apnea by his parents, necessitating the use of long-term video-EEG monitoring for accurate diagnosis.
- While treatment of seizures with Levetiracetam was successful, managing behavioral issues remains difficult, highlighting the need for careful monitoring and thorough patient history in cases of LNS, especially given the uncommon occurrence of epilepsy in these patients.
