A case of infantile neuroaxonal dystrophy: connatal Seitelberger disease

We present a male stillbirth with infantile neuroaxonal dystrophy (connatal Seitelberger disease). Following the development of polyhydramnios with an ultrasound scan showing severe distal arthrogryposis, the mother was induced at 38 weeks. A moderately macerated severely intrauterine growth restricted male stillbirth was delivered. External microcephaly, sloping forehead, simplified palmar skin creases, fixed flexion deformities of the knees, severe talipes equinovarus, spinal scoliosis, and empty scrotum were present. The brain was microcephalic with normal gyration, having a hypoplastic corpus callosum, thinned insular cortex, and enlarged lateral ventricles. There was a progressive increase in axonal spheroids going in a rostrocaudal direction in the central nervous system with the preferential distal denervation of muscles, with their motor nerves showing axonal spheroids. The presence of axonal spheroids in both the central and peripheral nervous systems and electron microscopic appearances were diagnostic of infantile neuroaxonal dystrophy occurring in utero.