Abstract

BACKGROUND: Arthrogryposis multiplex congenita is a multifactorial syndromic or non-syndromic group of conditions consisting of multiple congenital contractures of the body, of unknown etiology. It is associated with a heterogenous group of disorders that include but are not limited to processes such as myopathic and neuropathic. Neural tube defect is a neuropathic disorder that incorporates myelomeningocele that might be either isolated or within a spectrum of multiple diseases.

CASE REPORT: This is a case report of a 28-day-old male born with lower limb arthrogryposis with myelomeningocele and Chiari II malformation in a Mediterranean population.

CONCLUSIONS: Lower extremity arthrogryposis with myelomeningocele and Chiari II malformation is a prenatal diagnosis that requires high clinical suspicion, early multidisciplinary intervention, and genetic counselling. As long as new approaches are being explored in the management of such cases, babies born now with neural tube defects can expect better quality of life.

Keywords: Arnold-Chiari Malformation, Arthrogryposis, Meningomyelocele, Infant, Newborn, Male, Meningocele