Familial athrogryposis multiplex congenita in Gusau, Nigeria: Case report and review of the literature

Arthrogryposis multiplex congenita (AMC) is characterized by contractions of multiple joints present at birth with fat or fibrous tissue partially or totally replacing muscles. The etiology is from the interplay of genetic and environmental factors. A 2-day-old male term neonate presented with a history of multiple contractures in all limbs since birth, fever, and vomiting of 1-day duration. An older sibling, a male child had similar multiple contractures in all limbs and died a few days after birth. A maternal aunt had a male child with multiple contractures of all limbs who also died a few days after birth. Parents are young and not related. Our case had multiple contractures and specific posture involving all the limbs; however no cardiac or neurological abnormality was observed. He was managed as a case of neonatal sepsis with AMC (likely X-linked) with antibiotics and had plaster of Paris applied on the lower limbs. He did well and was discharged home to be followed up at the clinic. He, however, did not come for follow-up and died at home at the age of 10 weeks. Arthrogryposis is a common congenital presentation which requires comprehensive musculoskeletal evaluation and genetic consultation. Early rehabilitation requires the involvement of the parents or guardians and a multidisciplinary approach. This is to optimize possibility of making a diagnosis and providing parents with accurate information regarding the likelihood of recurrence. However, accurate information on recurrence is only possible when the cause of the AMC in any patient/family under investigation is identified.