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20 May 2019 : Case report  Lebanon

Arthrogryposis in a Case of Chiari Malformation II: First Case Report in a Mediterranean Population

Challenging differential diagnosis, Unusual setting of medical care, Congenital defects / diseases

Ahmad Salaheddine Naja1ABCDEF*, Hassan El Khatib2BDEF, Ahmad Baydoun1ABCDEF, Mohammad Nasser Eddine1A

DOI: 10.12659/AJCR.914870

Am J Case Rep 2019; 20:719-722

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, Meningocele

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923