Brief Report: 20-Year Follow-Up of an Infant with Neurological Impairment Born to a Mother with Variant Creutzfeldt-Jakob Disease

Abstract

A term infant born via uncomplicated caesarian section was noted to be jittery, hypotonic, and have pooling of secretions at birth. Over the first four weeks of life, the infant developed four limb hypertonia, hyperreflexia, and clonus. MRI at 3.5 weeks old showed brain immaturity, poor myelination, and increased signal in the dorsal thalami. At six months, dystonic features with decerebrate posturing and jerky limb movements were prominent. Cerebral palsy was diagnosed. Maternal antenatal history revealed six months of psychiatric symptoms and difficulties with ambulation, weakness, and sensory deficits in the first trimester of pregnancy. A diagnosis of new-variant Creutzfeldt-Jakob Disease (vCJD) was confirmed following tonsil biopsy demonstrating pathogenic prion protein deposition in lymphoid follicles on immunohistochemistry and type 4t prion protein on immunoblot. There was continued deterioration with maternal death at 17 months following symptom onset, at which time her infant was six months of age. The infant, now a young adult, has been followed for two decades with static neurological findings. Pathogenic prion proteins have not been isolated in the offspring in multiple tissue biopsies. As little is known about the natural history of in-utero vCJD exposure, long-term clinical vigilance continues.