Atypical choroid plexus calcifications associated with neurofibromatosis.

Abstract

THE roentgenographic abnormalities in neurofibromatosis are manifold, but the significance of atypically located calcifications in the choroid plexus of the lateral ventricles has not been described. The association of these calcifications with neurofibromatosis was first brought to my attention by Dr. Robert A. Evans2, who made the diagnosis in Case II before it was suspected clinically, solely on the basis of the roentgenographic findings. The association has now been seen in two other patients, in one of whom the cause of the calcifications was determined at postmortem examination. Case Reports Case I: P. L. C.,3 a female, died at the age of seventeen years with diffuse neurofibromatosis. The disease had first become apparent at eleven years of age when difficulties with gait and coordination in the lower extremities led to a thoracic laminectomy which revealed an intramedullary tumor in the conus medullaris and multiple neoplasms involving the nerve roots. At that time skull films showed calcifications in the right temporal lobe. A pneumoencephalogram, which was otherwise normal, indicated that the calcifications were in the superior and medial portions of the temporal horn in the region of the choroid plexus (Fig. 1). The patient's skin lesions were limited to several subcutaneous nodules and one pigmented skin lesion. During the following six years, the child's health gradually deteriorated due to the development of multiple neurologic and skeletal defects. At postmortem examination, there was widespread disease largely confined to the central nervous system and to the parasympathetic outflow tract in the viscera. This included multiple neurilemmomas involving cranial and spinal nerves, multiple intramedullary ependymomas, syringomyelia, multiple meningiomas over the cranial convexities and at the falx, optic nerve gliosis, and several glial ectopias and hamartomatous central nervous system lesions. The calcifications in the choroid plexus of the right lateral temporal horn were within a compact encapsulated meningioma of the transitional type which contained numerous, often aggregated psammoma bodies. Postmortem radiographs suggested that there had been little change in the lesion in the six years (Fig. 2). A similar smaller tumor was found in the left choroid plexus. Case II: J. K., a male, was first seen at the age of twelve years with a three-year history of progressive weakness of the right upper extremities and relatively small right lower extremities. Initial radiographic examination disclosed calcifications within the temporal horn of the right ventricle (Fig. 3) and gross enlargement of the right foramen ovale. A diagnosis of neurofibromatosis was suggested, and a subsequent clinical examination revealed a palpable nodule along a peripheral nerve.