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Overlapping Clinical Syndromes

Seth A. Morgan, MD; Helene A. Emsellem, MD; Jeffrey R. Sandler, MD

Arch Neurol. 1985;42(8):769-770.

Abstract
• A patient with absence of the septum pellucidum, optic hypoplasia, congenital nystagmus, hemiatrophy, and seizures fulfilled clinical and radiological criteria for diagnosis of both septo-optic dysplasia and the syndrome of absent septum pellucidum with porencephalies. The anatomical and clinical similarities between these two syndromes suggest a common embryological basis. Their simultaneous presence in this case further supports this explanation. Clinically mild forms of both septo-optic dysplasia and the syndrome of absent septum pellucidum with porencephalies are now detected with the aid of computed tomographic scanning in patients with unexplained hemiatrophy, congenital nystagmus, seizures, and short stature.

Author Affiliations
From the Departments of Neurology (Drs Morgan and Emsellem) and Ophthalmology (Dr Sandler), George Washington University School of Medicine, Washington, DC.

Footnotes
Accepted for publication July 20, 1984.

Reprint requests to Department of Neurology, George Washington University School of Medicine, 2150 Pennsylvania Ave NW, Washington, DC 20037 (Dr Emsellem).

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