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A 41-year-old male, with a history of neurofibromatosis type 1(NF1)was referred for further evaluation of positive fecal occult blood test. Abdominal contrast-enhanced CT incidentally showed a mass lesion with early darkening in the small intestine. It was suspected to be a small intestinal arteriovenous malformation, and surgery was performed. The tumor in the small intestine was resected under laparoscopic assistance. The histopathological diagnosis was gastrointestinal stromal tumors associated with NF1, which are usually located in the small intestine and relatively favorable prognosis.

Abdominal ultrasonography revealed a low echoic mass in the upper abdomen of a 65-year-old man. He was referred to our department, where abdominal CT revealed a tumor with a 30-mm contrast effect on the distal side of the inferior part of the duodenum. Endoscopy revealed a submucosal tumor in the same region, and ultrasonic endoscopy showed a low echoic mass with a clear boundary derived from the muscle layer. The duodenum was partially resected based on a diagnosis of suspected gastrointestinal stromal tumors (GIST), and the skin tumor was simultaneously resected. An elastic, soft, 30-mm tumor mass was found in the upper duodenum during surgery, and small nodules of 3-5mm were identified throughout the 110-cm length of the jejunum at intervals of 20-30cm. The histopathological diagnosis was GIST and immunostaining showed the mass to be c-kit and CD34 positive. We diagnosed the skin tumor as a neurofibroma (von Recklinghausen disease). Mutational analysis of c-kit in the resected specimen showed no mutation, therefore suggesting that imatinib would not be effective. Since the nodules remaining in the small intestine might also be GIST, we established a policy of regular imaging assessments.

We encountered a rare case of intraventricular ganglioglioma associated with neurofibromatosis type 1. A 42-year-old woman presented with a feeling of heaviness of the head and dizziness. She was diagnosed with neurofibromatosis type 1 because she had multiple subcutaneous neurofibromas and café au lait spots. On admission, she deteriorated slightly(Japan Coma Scale 1)and suffered from cognitive dysfunction and right hemiparesis. A computed tomography(CT)scan showed that she had an obstructed hydrocephalus with a long and circular mass lesion, 2cm in diameter, in the anterior horn of the left lateral ventricle. The mass showed low signal intensity(SI)on the T1-weighted image(WI), heterogeneous high SI on the T2-WI, and dense enhancement on a Gd-DTPA contrast MRI, extending from the head of the left caudate nucleus to the lateral ventricle. The patient underwent an urgent operation via an anterior transcallosal approach because of an obstructed hydrocephalus. The tumor was removed in its entirety, including its origin at the caudate head. The pathological diagnosis was a ganglioglioma grade 1 according with the classification of the World Health Organization. Here we describe this case and discuss the rare association between gangliogliomas and neurofibromatosis type 1.

We encountered a patient with dumbbell-type schwannoma arising in the right brachial plexus with von Recklinghausen disease. The patient was a 9-year-old girl. An abnormal shadow was detected high in the thoracic cavity by thoracic radiography. Thoracic CT and MRI demonstrated at the apex of the thoracic cavity a tumor measuring 9.0 x 6.0 cm, which was diagnosed as a dumbbell-type neurogenic tumor derived from the brachial plexus. Most cases of such tumors growing inside and outside the spinal cavity have reportedly been treated in a single surgical procedure. However, since the tumor in this patient was large, the intrathoracic portion was removed first in order to minimize the magnitude of the surgical invasion. The residual intraspinal tumor was removed during subsequent surgery. No neurological problems were observed after surgery. Patients with dumbbell-type schwannomas arising in the right brachial plexus appear to be very rare, and this patient was considered noteworthy.

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.

We experienced a case of difficult tracheal intubation in a 15-year-old boy with von Recklinghausen disease scheduled for resection of a right neck tumor. His scoliosis made it difficult to intubate and to manage airway because he easily developed dyspnea. We tried nasotracheal intubation with the patient awake under sedation using a bronchofiberscope, but we found an unexpected tumor jeopardizing his airway patency near his vocal cord. Preoperative examination of a tumor in the airway is essential in the anesthetic management of the patients with von Recklinghausen disease.

Neurofibromatosis (NF) 2, associated with bilateral acoustic neurinomas has been shown to be an entity distinct from NF 1, since their chromosomal abnormalities are completely different. NF 2 has a very low occurrence rate, but would be a terrible disease by its high prevalence of offsprings. In addition, compared to the majority of unilateral, nonfamiliar neurinoma, acoustic neurinomas of NF 2 have been shown to be refractory to treatments. Therefore, it is crucial to know the clinical characteristics of patients with NF 2. In this study, we analyzed 14 cases of NF 2 and 7 cases of NF 1 in whom brain tumors are main symptoms. Brain tumors associated with NF 1 were five neurinomas, two gliomas and a meningioma. The mean age of NF 1 patients accompanied with brain tumors was 37.6 years old, younger than the overall age of NF 1 patients. In patients with NF 2 there was often association with cranial, and spinal neurinomas and meningiomas. NF 2 especially, in younger patients was accompanied with multiple spinal neurinomas. Twenty acoustic neurinomas in 14 NF 2 patients were treated by surgery. Operative results showed that total resection was achieved in only 5 cases, 13 were subtotally and 2 were partially resected. Hearing preservation was attained in only three cases. In addition, all but two patients were complicated with postoperative facial palsy. From this analysis, it is clear that NF 2-associated acoustic neurinomas are not responsive to surgical intervention. We also reviewed genetical problems briefly.

A rare case of intrathoracic meningocele associated with neurofibromatosis was reported. A 47-year-old female was admitted to our institute because of an abnormal shadow on chest X-ray. The chest X-ray film showed homogenous opacity with a well defined margin in the right apex. Chest CT showed an enlarged intervertebral foramen and defect of the vertebral arch around the tumor. There was no scoliosis. Though preoperative diagnosis was dumbbell type neurinoma, the tumor was found to be a protrusion of dura mater with spinal fluid out of the spinal canal, covered by thickening tumorous tissue. Part of the wall was excised and the residual opening was carefully repaired and wrapped by the pedicled parietal pleura. Retrospectively, MRI showed characteristic findings of intrathoracic meningocele. The tumorous part of it was diagnosed as neurofibroma on histological examination.

A case of pheochromocytoma associated with von Recklinghausen's disease is reported. A 53-year-old man consulted the Department of Dermatology of our hospital because of Dermatoptosis in the breast and abdomen. He asked to resect of the mass. Blood bio chemistry findings were almost within normal limits but only catecholamines in serum and urine were remarkably higher. With a result of other detailed examinations, he was diagnosed as pheochromocytoma. He was referred to our clinic. Laparotomy was carried out under the strict monitoring of the circulation. We diagnosed his clinical status to non-hypertensive type. The tumor was 2.5 x 1.7 x 1.7 cm in size and weighed 10 g. After operation, serum and urine catecholamines returned to all within normal limits. a operation for the dermatoptosis was performed afterwards at the Department of Dermatology.

A 32-year-old woman had a history of left temporal and occipital bone defects since her infancy and she developed left exophthalmos in the last three years following a ormin head injury. The left eye ball was displaced downward and rotated nasally, and she was unable to move the left eye voluntarily beyond the mid-line. The left eye ball could not be rotated beyond the mid-line even by muscle traction. Skull x-rays and carotid angiograms showed various abnormalities of skull dysplasia and positional abnormalities of intracranial arteries. Pneumoencephalography demonstrated dilatation of the arterior and temoral horns of the left lateral ventricle. Cranioplasty was performed and postoperative vasospasm occurred in the internal carotid and middle cerebral arteries, causing right hemiparesis and aphasia. Congenital vascular abnormality in neurofibromatosis was discussed in relation to the cerebral vasospasm.