OBJECTIVE: To present the case of a term newborn with rapid progression of signs of neurodegenerative disease.
RESULTS: In a case of a term newborn with numerous dysmorphic features, with seizure activity from the 3rd day of life, hypertonia and serious changes on brain parenchyma were presented. Diagnosis of molybdenum cofactor deficiency was confirmed by the decreased level of uric acid, 31 μmol/l, in serum, increased excretion of thiosulfate and S-sulfocysteine in urine, taurine (1729.3 μmol/mmol crea; normal range 30-300 μmol/mmol crea) and xanthine (276.9 μmol/mmol crea; normal range < 25 μmol/mmol crea) in urine. Sulfite oxidase activity on skin fibroblasts in culture was not detectable. The patient died at the age of 28 days of life.
CONCLUSION: Deficiency of molybdenum cofactor leads to accumulation of toxic metabolites (levels of sulfite), which causes disturbances of neurotransmitters even before delivery. Therapy is symptomatic, no effective therapy is available. Seizures are difficult to suppress. This case report is about the first patient in Slovakia.