A rare case of arthrogryposis multiplex congenita in a 2-year-old boy case report

Area of Science:

• Pediatric Orthopedics
• Clinical Genetics
• Developmental Pediatrics

Background:

• Arthrogryposis multiplex congenita (AMC) is a congenital disorder characterized by non-progressive muscle weakness and joint contractures affecting multiple limbs.
• The etiology of AMC is diverse, involving genetic factors, fetal akinesia, and neuromuscular abnormalities.
• Early diagnosis and intervention are crucial for optimizing functional outcomes in affected children.

Observation:

• A case report of a 2-year-old boy with AMC born to consanguineous parents in Saudi Arabia.
• The patient presented with symmetrical contractures in all four limbs, bilateral hip dysplasia, and vertical talus.
• Associated dysmorphic features and systemic conditions included low-set ears, triangular face, nevus flammeus, lactose intolerance, gastritis, inguinal hernia, and undescended testis.

Findings:

• The case highlights the complex presentation of AMC with extensive musculoskeletal and systemic involvement.
• Despite the severity of limb involvement, the patient demonstrated potential for a good prognosis.
• A comprehensive physical examination revealed multiple congenital anomalies requiring a multidisciplinary management strategy.

Implications:

• This case underscores the importance of a thorough physical examination in identifying the full spectrum of AMC-related anomalies.
• A multidisciplinary team approach is essential for effective diagnosis and management planning in AMC.
• Prompt surgical and therapeutic interventions can lead to favorable outcomes for children with AMC, even in severe presentations.