A neonatal diagnosis of congenital chronic inflammatory demyelinating polyneuropathy

Abstract

We report a female infant noticed by her mother to have reduced movements of her right wrist and left foot at birth. This female presented to the Accident and Emergency Department of Queen Elizabeth Hospital, London, UK, aged 6 weeks, with significant weakness of her right wrist and left foot. Her clinical history also revealed sudden diminution in fetal movements 2 weeks before delivery, consistent with neuropathology in utero and neuromuscular deficit in the immediate postnatal period. An initial examination revealed generalized hypotonia, areflexia, and paucity of movements. Electrophysiological studies suggested demyelinating polyneuropathy; sural nerve biopsy confirmed a diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP). With the results and the pre- and postnatal clinical history, we believe this to be the first reported individual with congenital CIDP confirmed in the neonatal period. We describe the treatment and outcome up to the age of six years.