Abstract

keywords Neurofibromatosis Meningioma—etiology Neurilemmoma—etiology

Introduction

Von Recklinghausen's disease is associated with multiple central and peripheral nervous system tumors at various locations and of different histological types.^1,2 Acoustic neuromas and intracranial meningiomas are common, but intraventricular meningiomas are infrequent.³ Peripheral nerve tumors are usually neurofibromas, but schwannomas (neurilemomas) are rare.² We are reporting a patient with von Recklinghausen's disease who presented with bilateral auditory and visual impairment and who was found to have bilateral acoustic neuromas, a parietal and a suprasellar meningioma, bilateral intraventricular meningiomas, and multiple neurilemomas of the intercostal nerves.

Case

A 28-year-old unmarried Syrian motor mechanic presented with progressive diminution of vision in both eyes for 2 months. He also had progressive impairment of hearing in both ears for 2 years. His parents and siblings were not available for examination but there was no family history suggestive of any neurological disease or the skin lesions of neurofibromatosis. On examination, he was a well-developed, well-nourished young man who appeared drowsy but well oriented. Vision in the right eye was limited to light perception and in the left eye to hand movement. Pupils were normal in shape and size but responded to light rather sluggishly. Optic discs were swollen on both sides and had hazy margins but minimal venous engorgement. Hearing was severely impaired in both ears. The remainder of the neurological findings were normal, as were the cardiovascular and respiratory systems and the abdomen. Visual evoked response showed poor voltage and increased latency on both sides, indicating degeneration of optic pathways. Audiometry showed a hearing threshold of 20 dB on the right side and 60 dB on the left side. Auditory evoked response showed the wave V latency-intensity relationship indicated sensorineural hearing loss, most severe on the left side.

Roentgenograms of the skull (Figure 1) showed three opacities: a heavily calcified opacity, 2 cm in diameter, in the region of the right lateral ventricle posteriorly; a small calcified opacity, 0.7 cm in diameter, in the region of the left lateral ventricle posteriorly; and a moderately calcified opacity, 1.5 cm in diameter, above and anterior to the sella. Complex motion coronal tomograms of petrous bones (Figure 2), showed widening of both internal auditory meati. Computed tomographic (CT) scans of the head (Figures 3-6) demonstrated the presence of six intracranial tumors: a large right convexity tumor that was calcified in the center and cystic in one part of the periphery; bilateral intraventricular masses, both with calcification; a suprasellar mass that was partly calcified; and tumors in both the cerebellopontile angles.

Chest x-rays showed three large opacities, all located peripherally adjacent to the chest wall. One of them was situated medially and posteriorly in the left upper zone, another in the right hemithorax posteriorly near the second and third dorsal vertebral bodies, and the third anteriorly in the right third intercostal space. The latter was removed surgically and found to be a cystic neurilemoma of the intercostal nerve.

Presence of multiple intracranial tumors prompted careful search for skin lesions of von Recklinghausen's disease. No typical cafe au lait spots or neurofibromata were found. Only one small nodule, 3 mm in diameter, was found in the skin just proximal to the right antecubital fossa. On biopsy it proved to be a lobulated neurilemoma.

A right occipital and frontal craniotomy with total removal of the right convexity lesion and the suprasellar mass was performed. Ten days later the patient underwent left temporal craniotomy and total removal of the tumor from the left lateral ventricle. In a third stage the right acoustic tumor was totally removed through a posterior fossa craniotomy. Microsurgical techniques were used in all these procedures. The patient tolerated the operations well and developed no additional neurological deficits. However, no improvement occurred in his vision or hearing.

Pathologic examination of the convexity tumor showed it to be an angiomatous meningioma. The suprasellar tumor and the left intraventricular tumors were found to be psammomatous meningiomas, and the acoustic tumor proved to be neurilemoma. Part of the convexity meningioma had undergone cystic degeneration but malignant change was not found in any of the tumors.

Discussion

Von Recklinghausen's disease is a neuroectodermal abnormality which may present in three forms—central, peripheral, or visceral.¹ The central form consists of multiple intracranial and intraspinal tumors arising from the central nervous system parenchyma, its coverings, and the cranial and spinal nerve roots. The peripheral form is characterized by peripheral and subcutaneous nerve sheath tumors, usually neurofibromas, rarely neurilemomas, and the characteristic cafe au lait spots. Patients with the central form usually have few or none of the peripheral stigmata. In our patient multiple intracranial tumors were associated with only one small subcutaneous neurilemoma and three intrathoracic neurilemomas.

In a review of medical literature dating back to 1822, Rodriguez and Berthrong (1966) found 48 cases and added one case of their own of neurofibromatosis with acoustic neurinoma and multiple intracranial and/or intraspinal meningiomas.³ Forty of the patients had bilateral acoustic neuromas, and only 5 of these had intraventricular meningiomas. Neurilemoma of the peripheral nerves was not reported in any of these 49 cases. Several reports of different types of intracranial and peripheral nerve tumors in various combinations have been published since 1966,^4-9 but we could not find any case presenting with the combination of tumors seen in our patient.

Of the six tumors found on the CT scan of the head, only the two intraventricular meningiomas and the suprasellar meningioma were identified on the skull x-rays. All of these were calcified. The right convexity meningioma, even though calcified on the CT scan, was not visible on the skull x-rays. The two acoustic tumors were not detectable on the plain x-rays but complex motion tomograms of the petrous bones did show widening of the internal auditory meatus on both sides, consistent with bilateral acoustic tumors.

Cystic degeneration is known to occur in both meningiomas and neurilemomas.¹ Cystic changes were found in one of the six intracranial tumors and one of the three intrathoracic tumors at surgery. In the presence of intracranial lesions, the skin lesions of neurofibromatosis have often been few and inconspicuous,¹ as they were in this patient. Although this condition is considered to be an inherited neuroectodermal abnormality determined by a dominant gene, in nearly 50 percent of the cases it seems to develop by mutation.¹⁰ The negative family history in our patient suggests that the disease may have developed by mutation in this case, although presence of asymptomatic lesions of the central form of this disease in some of his family members cannot be ruled out.

The hearing and visual losses in this patient were most probably due to the bilateral acoustic tumors and the suprasellar meningioma. The rate of progression of this disease is usually very slow,² and malignant change occurs infrequently.¹¹ No malignant change was found in this patient. With modern neurosurgical techniques it is possible to remove acoustic tumors and conserve hearing, but the prognosis for conservation of hearing decreases with increasing size of the tumor.¹² Therefore, if this patient had sought medical help earlier, timely removal of these tumors might possibly have saved his sight and hearing at least partially and resulted in gaining several more useful years of life for him.

ACKNOWLEDGEMENT

The authors wish to thank Dr M. Ashraf Ali for his review of the pathology in this case.

References

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