Absence of the septum pellucidum. Overlapping clinical syndromes
S. A. Morgan, H. A. Emsellem and J. R. Sandler
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.
