Vol. 31 (Suppl 2) 2010 Neuro endocrinology letters

Newborn with neonatal form of molybdenum cofactor deficiency - the first patient in the Slovak Republic.

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 mol.....