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Familial amentia, unusual ventricular calcifications, and increased cerebrospinal fluid protein

From the Eunice Kennedy Shriver Center for Mental Retardation and the Neurology Service, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.

A sibship originally reported by Friedman and Roy¹ as showing severe mental retardation, strabismus, hyperactive tendon reflexes, lalling speech, and foot deformities was restudied. Three major additional findings were noted. The cerebrospinal fluid protein concentration was increased two to three times above normal in four siblings who were available for study. Radiographs of cranial structures in three siblings showed identical pathologic intracranial calcifications which corresponded in distribution to the choroid plexus. The choroid plexus was not demonstrable in one patient when radiolabeled ^99m-Tc-pertechnetate was injected without perchlorate. Neuropathologic findings in one sibling included small subcortical heterotopias and atrophy of the choroid plexus with encasement by glial fibrils. These findings denote a new heredofamilial neurologic syndrome associated with mental retardation and a disorder of choroid plexus.

Presented in part at the 30th annual meeting of the American Academy of Neurology, Los Angeles, CA, April 1978.

Supported in part by grants (HD 05515, HD 04147, NS 10473, NS 10330) from the United States Public Health Service and Child Health Project (906).

Address reprint requests to Dr. Lott, Eunice Kennedy Shriver Center for Mental Retardation, 200 Trapelo Road, Waltham, MA 02154.

Accepted for publication May 16, 1979.