Treatment-resistant seizures associated with cerebral atrophy

A male patient with consanguineous parents was born spontaneously in pregnancy week 39+4 after an unremarkable pregnancy. The Apgar scores were 9/10/10 and the umbilical artery pH and base excess were normal. Under phototherapy for hyperbilirubinemia, treatment-resistant seizures occurred. Based on the positive urine sulfite test, low level of serum uric acid, clearly elevated xanthine as well as very low uric acid excretion, the clinical picture, findings on cranial sonography, which continued to deteriorate thereafter up to cerebral atrophy, and the corresponding encephalographic findings, a diagnosis of molybdenum cofactor deficiency was made, which was confirmed by molecular genetic analysis. Until now the disorder can only be managed symptomatically. In our patient during the further course there was acute exacerbation of the cardiorespiratory situation that resulted in cardiovascular arrest and ultimately caused the patient's death.