Occipital Horn Syndrome Case Report: Multidisciplinary Approach of a Rare Entity

Mafalda Mendes-Pinto, Carolina Figueira, Ester Pereira, Margarida Henriques, Pedro Louro, Paula Gouveia, Ricardo Veiga, Paula Garcia


We report the case of an 8-year-old boy with delayed psychomotor development, dysarthria, choreoathetosis, joint mild hyperlaxity, coarse hair, dry lax skin and facial dimorphisms. Cerebral magnetic resonance revealed diffuse vascular tortuosity, with multiple loops in some arteries of Willis circle. Clinical presentation, corroborated by the imagiological findings, raised the suspicion of a disorder of copper metabolism. Serum copper and ceruloplasmin were decreased and lateral skull X-rays demonstrated bilateral occipital exostoses. ATP7A gene sequencing identified a hemizygous variant c.375delA (p.Ala126Glnfs*2), confirming the diagnosis of occipital horn syndrome. Occipital horn syndrome (also called X-linked cutis laxa) is a milder form of Menkes disease. This rare disorder of copper metabolism results from mutations in ATP7A gene encoding a transmembrane copper-transporting enzyme. The broad spectrum of clinical presentation makes the diagnosis challenging. This case illustrates the importance of a multidisciplinary approach, highlighting the role of neuroimaging.

J Med Cases. 2018;9(7):207-210
doi: https://doi.org/10.14740/jmc3078w


Cerebral vascular tortuosity; Bilateral occipital exostoses; Copper metabolism disorders; ATP7A gene; Hemizygous variant c.375delA

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