A case of the spinal subdural hematoma formation following ventriculoperitoneal shunting for von Recklinghausen's disease associated with aqueductal stenosis

Von Recklinghausen's disease associated with hydrocephalus due to non-tumoral aqueductal stenosis is rare. Furthermore the formation of subdural hematoma within the spinal canal is also a very rare complication of ventriculoperitoneal shunt. We presented a case of spinal subdural hematoma formation following ventriculoperitoneal shunting for von Recklinghausen's disease associated with aqueductal stenosis. A 10-year-old girl with von Recklinghausen's disease was referred to our hospital for gait disturbance during the previous 8 months. Magnetic resonance imaging (MRI) revealed hydrocephalus due to non-tumoral aqueductal stenosis, and ventriculoperitoneal shunt was instituted. Three months later, the patient developed lumbar pain and paraplegia. MRI revealed subdural hematoma in the lumbosacral spinal canal, and bilateral intracranial subdural hematoma were shown on computerized tomography (CT) scans. Subdural hematoma in the lumbosacral spinal canal was evacuated by laminectomy. Improvement of her neurological deficit was obtained postoperatively, and intracranial subdural hematomas disappeared spontaneously. Spinal subdural hematoma is assumed to be formed by the migratory movement of intracranial subdural hematoma under the influence of gravity. A characteristic finding of MRI is that such a subdural hematoma in the lumbosacral canal is located around the cauda equina.     

Aqueductal stenosis as isolated localization involving the central nervous system in children affected by von Recklinghausen disease

The Authors report three cases of non tumoral aqueductal stenosis associated with von Recklinghausen disease in children. Moreover, 16 similar cases collected from the literature are illustrated. The clinical features are evaluated in light of literature's data. Among all 19 cases, the median age was 19 years (range 6-46 years) and 9 patients were under the age of 13 years. In this latter group, the most represented clinical symptoms were headache and gait disturbances. As regards the neuroradiological procedures, CT scan represented the best tool in the evaluation of the ventricular size. Our own three cases underwent to ventriculo-atrial shunt procedures, followed by clinical recovery (follow-up: 3 months-5 years). In conclusion it is felt that, among all the pathological events usually described in patients affected by neurofibromatosis, aqueductal stenosis seems to belong to the natural history of this disease.     

Pheochromocytoma and von Recklinghausen's disease

The association between von Recklinghausen's disease and pheochromocytoma is present about 10% of cases. We report a case of 49 years old women who presented with elevated blood pressure and von Recklinghausen's neurofibromatosis. Laboratory examination showed a marked level in the urinary excretion of cathecholamine. The computed tomography showed a right adrenal tumor suggesting a pheochromocytoma. The adrenalectomy was realised by transabdominal approach and the histological examination confirmed a benign pheochromocytoma. The authors discuss the pathogenetic hypothesis of this rare pathological association, the diagnostic methods and the therapeutic procedure.     

Periampullary neoplasms in von Recklinghausen's disease

A case of neurofibromatosis is reported in a patient who was initially seen with obstructive jaundice caused by a carcinoid tumor originating from the ampulla of Vater. An extensive review of the literature suggests that patients with von Recklinghausen's disease are at significant risk for periampullary neoplasms of neural-crest and non-neural-crest origin. The tendency of those tumors to arise from the ampulla of Vater has diagnostic and therapeutic implications.     

Association of von Recklinghausen's neurofibromatosis and aqueduct stenosis

We present 6 patients with a definite diagnosis of von Recklinghausen's neurofibromatosis. All of them had aqueductal stenosis and hydrocephalus requiring surgical intervention because of clinical signs of increased intracranial pressure confirmed by pressure measurements.     

Adult aqueductal stenosis with von recklinghausen's neurofibromatosis

A 28-year-old man with von Recklinghausen's neurofibromatosis was first seen with a spastic-ataxic gait and epileptic seizures of recent onset. Computerized to. mographic scan established the diagnosis of aqueductal stenosis, rarely reported in patients with von Recklinghausen's disease. The value of computerized tomography in the etiological diagnosis of hydrocephalus in von Recklinghausen's disease is emphasized and the pathogenesis of aqueductal narrowing in neurofibromatosis is discussed.     

Solitary intracerebral schwannoma in von Recklinghausen's disease

A case of intracerebral schwannoma of the frontal region in a patient with mixed neurofibromatosis is reported. The possible origins of the tumor are discussed.     

Cervical dural ectasia in von Recklinghausen's disease

A case of cervical dural ectasia in von Recklinghausen's disease is reported. A 36-year-old female was admitted to our hospital with complaints of hypesthesia in the extremities and gait disturbance. Plain cervical x-ray films showed dilated interpediculate distance and increased A-P diameter of the cervical spinal canal. Myelography showed abnormally dilated subarachnoid space at C4-C7 level. Metrizamide CT scan also revealed abnormally dilated subarachnoid space, which was at the ventral site of the spinal cord. No tumors, arachnoid cysts, syringomyelia were noticed. From the above-mentioned radiological findings, dural ectasia in von Recklinghausen's disease was suggested. In the discussion, it was emphasized to consider dural ectasia in the differential diagnosis of the dilated spinal canal.     

von Recklinghausen's disease and pheochromocytomas.

PURPOSE: We review the literature and characterize the clinical findings of von Recklinghausen's associated pheochromocytoma. MATERIALS AND METHODS: A Grateful Med search for the years 1966 to 1999 was performed on the subjects, "von Recklinghausen" and "neurofibromatosis." Articles from the Grateful Med search were then reviewed to identify older publications. Of 325 articles 118 are included in this review. RESULTS: Pheochromocytomas have been clinically identified in 0.1 to 5.7% of patients with von Recklinghausen's disease. Mean patient age was 42 years (range 1.5 to 74) in 87 women and 61 men at presentation with pheochromocytoma. Of the 148 patients 84% had solitary adrenal tumors, 9.6% bilateral adrenal disease and 6.1% ectopic pheochromocytomas. Symptoms related to pheochromocytoma or hypertension were noted in 78% of the patients. Tumors secreted epinephrine and norepinephrine, and 87% demonstrated metaiodobenzylguanidine uptake. Of the 148 patients 6% died during pregnancy or a medical procedure, or due to hypertensive crisis without apparent provocation, 8.8% had gastrointestinal carcinoid tumors and 11.5% had metastases or local invasion from pheochromocytoma. CONCLUSIONS: Pheochromocytomas occur in a small but defined number of patients with von Recklinghausen's disease, and can be associated with significant morbidity and mortality if not detected. Screening of patients with von Recklinghausen's disease and hypertension or before provocative procedures or pregnancy seems to be indicated.     

Failure of third ventriculostomy in the treatment of aqueductal stenosis in children

OBJECT: The goal of this study was to analyze the types of failure and long-term efficacy of third ventriculostomy in children. METHODS: The authors retrospectively analyzed clinical data obtained in 213 children affected by obstructive triventricular hydrocephalus who were treated by third ventriculostomy between 1973 and 1997. There were 120 boys and 93 girls. The causes of the hydrocephalus included: aqueductal stenosis in 126 cases; toxoplasmosis in 23 cases, pineal, mesencephalic, or tectal tumor in 42 cases; and other causes in 22 cases. In 94 cases, the procedure was performed using ventriculographic guidance (Group I) and in 119 cases by using endoscopic guidance (Group II). In 19 cases (12 in Group I and seven in Group II) failure was related to the surgical technique. Three deaths related to the technique were observed in Group I. For the remaining patients, Kaplan-Meier survival analysis showed a functioning third ventriculostomy rate of 72% at 6 years with a mean follow-up period of 45.5 months (range 4 days-17 years). No significant differences were found during long-term follow up between the two groups. In Group I, a significantly higher failure rate was seen in children younger than 6 months of age, but this difference was not observed in Group II. Thirty-eight patients required reoperation (21 in Group I and 17 in Group II) because of persistent or recurrent intracranial hypertension. In 29 patients shunt placement was necessary. In nine patients in whom there was radiologically confirmed obstruction of the stoma, the third ventriculostomy was repeated; this was successful in seven cases. Cine phase-contrast (PC) magnetic resonance (MR) imaging studies were performed in 15 patients in Group I at least 10 years after they had undergone third ventriculostomy (range 10-17 years, median 14.3 years); this confirmed long-term patency of the stoma in all cases. CONCLUSIONS: Third ventriculostomy effectively controls obstructive triventricular hydrocephalus in more than 70% of children and should be preferred to placement of extracranial cerebrospinal shunts in this group of patients. When performed using ventriculographic guidance, the technique has a higher mortality rate and a higher failure rate in children younger than 6 months of age and is, therefore, no longer preferred. When third ventriculostomy is performed using endoscopic guidance, the same long-term results are achieved in children younger than 6 months of age as in older children and, thus, patient age should no longer be considered as a contraindication to using the technique. Delayed failures are usually secondary to obstruction of the stoma and often can be managed by repeating the procedure. Midline sagittal T2-weighted MR imaging sequences combined with cine PC MR imaging flow measurements provide a reliable tool for diagnosis of aqueductal stenosis and for ascertaining the patency of the stoma during follow-up evaluation.     

Multiple brain tumours with von Recklinghausen's disease

Summary Over the past 10 years we have experienced 33 cases of von Recklinghausen's disease, among whom 5 were cases of multiple (3 or more) brain tumours. In the past we have extirpated multiple tumours in a one-stage operation, but the results were poor. Recently, we have done multi-stage operation in two cases thought to require surgical treatment and have obtained satisfactory results.We have discussed the autopsy results of our own case of multiple neurinomas and meningiomas and have reviewed the 44 reported cases of von Recklinghausen's disease in whom the presence of three or more brain tumours had been confirmed at surgery or autopsy.     

Meningioangiomatosis not associated with von Recklinghausen's disease

We report a rare case of meningioangiomatosis unassociated with von Recklinghausen's disease. The patient was a 30-year-old woman with a 25-year history of seizures. The lesion was confined to the right temporal cortex and consisted of a proliferation of angiomatous blood vessels and meningocytic cells. Her seizures have been well controlled after excision of the lesion.     

Angiographic diagnosis of non-neoplastic aqueductal stenosis in children (author's transl)]

Angiograpic diagnosis of non-neoplastic aqueductal stenosis in 4 children were described. The materials were selected from 160 vertebral angiograms of children below 15 years, performed at the Kyushu University Hospital from July 1967 to March 1974. There were 4 cases of angiographically demonstrated non-neoplastic aqueductal stenosis. These cases were confirmed by pneumoence-phalogram and/or pneumoventriculograms, which were performed before and after the Tolkildens procedure. Ages of the patients varied from 6 to 15 years with average of 11.8 years. All the angiographic findings of these 4 patients with non-neoplastic aqueductal stenosis were explained on the basis of 5 major morphological changes such as 1) marked symmetrical obstructive hydrocephalus, 2) dilatation of the third ventricle and aqueduct above the obstruction with resultant downward displacement and compression up the upper brain stem and posterior displacement of the precentral cerebellar fissure, 3) maintenance of normal shape and position of the lower half of the posterior fossa structure, 4) absence of midline shaft of the median and paramedian vessels, 5) morphologic changes of the subarachonoid cisterns. These angiographic findings coincided with the angiographic features as described by Huang et al. (1968), under the experience with 10 cases of non-neoplastic aqueductal stenosis of adults, averaging of 43 years. Special emphasis was placed on the diagnostic value of the small veins and arteries in the posterior fossa vascular system. We also emphasized that the vertebral angiography should be performed as the first investigative procedure using the contrast media in the posterior fossa lesions.     

Splenic localization of von Recklinghausen's disease]

The authors report about one case of splenic site in a polyvisceral involvement by von Recklinghausen's disease. This site was not found in the literature. Since it was impossible to confirm the benignancy of the lesions, the degenerative risks of which are well known, the authors carried out partial gastrectomy and splenectomy.     

Gastrointestinal neurofibroma in a patient with von Recklinghausen's disease

A 47-year-old woman underwent surgery because of a nonhealing gastric ulcer. An interesting pathologic finding followed.     

Neurofibrosarcoma of the duodenum in von Recklinghausen's disease.

The clinical features and surgical management of 2 patients with neurofibrosacroma of the duodenum in association with von Recklinghausen's disease are described. The tumours were excised and the resulting duodenal defects closed satisfactorily using the jejunal serosal patch technique. Three such neurofibrosarcomas reported previously in English are reviewed.