Case Report: A male newborn with occipital horn syndrome [version 2; peer review: 2 approved]

Abstract

Occipital horn syndrome (OHS) is a rare genetic disease and copper transport disorder caused by a faulty ATP7A gene with multisystemic presentations, most originally related to musculoskeletal and connective tissue affections. In our case, a male neonate with OHS presented soon after birth with pathognomonic occipital exostosis, cutis laxa at the nape region, and widely opened skull sutures and fontanels. A skeletal survey showed occipital exostosis projecting from the line of insertion of the trapezius muscle and wide fontanels on skull X-ray films with no exostoses or deformities elsewhere. In addition to our case report being the second reported case for the condition detected early in the neonatal period, it also emphasizes the importance of investigating any sign thoroughly, as it may be an early alarming sign of a progressive disease that may affect the patient’s quality of life. In addition, it highlights the value of early diagnosis and multidisciplinary management of these patients.

Keywords

• Occipital horn syndrome
• ATP7A gene
• cutis laxa
• copper transport disorders
• occipital exostosis
• Menkes disease.
• eng