Diagnosis of a patient with Sifrim-Hitz-Weiss syndrome, development and epileptic encephalopathy-14, and medium chain Acyl-CoA dehydrogenase deficiency: a case report. Diagnosis of a patient with Sifrim-Hitz-Weiss syndrome, development and epileptic encephalopathy-14, and medium chain Acyl-CoA dehydrogenase deficiency: a case report

Background: It is generally recognized that genetic metabolic disorders can result in neurological symptoms such as seizures, developmental delays, and intellectual disability. Heterogeneous clinical presentations make the diagnosis challenging. Case presentation: We reported a case of a four-year-old female patient who experienced clusters of complex partial seizures with secondary generalization and developmental delay. She was diagnosed through genetic testing with Sifrim-Hitz-Weiss syndrome, development and epileptic encephalopathy-14, and medium chain Acyl-CoA dehydrogenase deficiency. A treatment regimen was initiated with Valproic acid, Levetiracetam, Phenobarbital, and Clonazepam. However, this led to only partial control of the seizures. Conclusions: Clinical follow-up of the patient will further define the clinical spectrum of KCNT2, ACADM, and CHD4 genes. It will also determine the long-term efficacy of the treatment of seizures and the development of precision medicine for epilepsy syndromes due to gain-of-function mutations. Keywords: encephalopathy, genetic mutations, neurological disorder, seizure, Sifrim-Hitz-Weiss syndrome, development and epileptic encephalopathy-14, medium chain Acyl-CoA dehydrogenase deficiency.