Journal of Rare Disorders: Diagnosis & Therapy

Neurological Complications in Phenotypical Pfeiffer Syndrome: A Case Report

Background: Pfeiffer syndrome is a rare disorder characterized by craniosynostosis, broad thumbs, big toes and partial syndactyly of the hands and feet. It may also be associated with respiratory, ocular, otologic or neurologic problems that can complicate treatment. Raised intracranial pressure in Pfeiffer syndrome has been attributed to an array of physiopathologic mechanisms.

Methods: Single case report of a young man with a Pfeiffer-like syndrome presenting with severe headaches and progressive visual loss found to have high-normal to elevated intracranial pressure.

Results: Imaging studies showed a right internal jugular vein occlusion raising concerns as to whether venous sinus hypertension may have been involved in the increased intracranial pressure. However, the main concern in our patient was the appearance of bilateral disc edema and his sudden loss of vision. He presented a more severe optic atrophy and a complete loss of vision on the left eye, associated with a narrowing of the left optic canal in a subsequent CT scan.

Conclusion: Neurologists should be aware of Pfeiffer syndrome, a rare genetic disorder which may possibly lead to several and potentially serious neurological complications.

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Author(s):

Christian J Amlang, Amre Nouh, Douglas E Anderson and Jose Biller,

Abstract | Full-Text | PDF

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