Isolated plexiform neurofibroma of tongue and oropharynx: a rare manifestation of von Recklinghausen''s disease

PSA-doubling time (PSA-DT) immediately before the diagnosis of prostate cancer was calculated in 8 prostate cancer patients in whom PSA was checked three or more times with the same kit during a period of 6 months or more. The correlation between PSA-DT and clinical stage or pathological differentiation was analyzed. In most patients, PSA correlated well showing a straight regression line to the observation period on a hemi-logarithmic scale. The correlation coefficient was high, almost 0.9 or more except in one patient. PSA-DT ranged from 5.1 to 64.9 months, averaging 23.1 months. There was no significant correlation between clinical stage or pathological differentiation and PSA-DT. However, PSA-DT in stage D patients tended to be shorter than that of stage B + C patients. One patient who had stage D poorly differentiated carcinoma died of cancer recurrence. In this patient, PSA-DT was short (5.1 months).     

Intercostal neurofibroma in a patient with von Recklinghausen's disease. Diagnostic utility of helical CT and nuclear magnetic resonance

A 44 year-old man with a type I Neurofibromatosis (NFI) and an intercostal mass is presented. By means of percutaneous fine needle aspiration punction under CT control, this tumor could be diagnosed of neurofibroma. It is important to remark not only the role of helical CT with anatomical reconstruction in the diagnosis of intercostal tumors, but also that intercostal location of neurofibromas has been rarely reported in the literature. Because of frequent association between NFI and neoplasms, it is always necessary to perform histological study of every new tumor that appears in the course of this entity.     

Giant retroperitoneal hematoma in a patient with von Recklinghausen's disease]

A 51-year-old male of von Recklinghausen's disease presented with huge retroperitoneal hematoma caused by spontaneous arterial rupture. He died of uncontrollable hemorrhage during the operation. Gross appearance of aorta, renal artery, celiac artery, pulmonary artery and lumbar artery were extremely fragile, and there was a complete rupture between aorta and lumbar artery. On the microscopic examination, significant medial dysplasia were demonstrated in these arteries. Arterial stenosis is well-known vascular complication in von Recklinghausen's disease. Spontaneous rupture of major artery, however, has been extremely uncommon. This is the 26th case reported in the world literature, and 21th case in the Japanese literature.     

Bladder cancer associated with von Recklinghausen's disease: a case report

A 53-year-old man was admitted to our hospital with urinary frequency and miction pain. He had von Recklinghausen's disease with multiple café-au-lait spots and neurofibromatosis. Computed tomography scan and magnetic resonance imaging revealed an invasive bladder tumor 10 cm in diameter, and not metastasis. He was diagnosed as having a bladder tumor (T3a N0 M0 with von Recklinghausen's disease. After balloon occluded arterial infusion (BOAI) chemotherapy, total cystectomy was performed. Pathological diagnosis was transitional cell carcinoma, G3, pT3aN0M0. We reviewed and discussed 97 cases of carcinoma associated with von Recklinghausen's disease reported in the Japanese literature. Only 5 cases of bladder cancer have been reported, including the present case.     

von Recklinghausen's disease and its pathogenesis

von Recklinghausen's disease was first described in 1882. Formerly, it was considered a single disease, but is now known to be two distinct disease, neurofibromatosis 1 (NF 1, peripheral form of neurofibromatosis) and neurofibromatosis 2 (NF 2, bilateral acoustic neurofibromatosis). Neurofibromatosis is inherited as an autosomal dominant with a high rate of penetrance. NF 1 gene is located in the pericentromeric region of chromosome 17. NF 2 gene is localized to chromosome 22. Clinically, there are some characteristic signs and symptoms. The typical NF 1 patient has café-au-lait spots, melanin pigmentation and palpable neurofibromas, while NF 2 has its onset with the development of tinnitus or hearing loss, due to the presence of bilateral acoustic neuroma.     

Intestinal leiomyosarcoma and gastroparesis associated with von Recklinghausen's disease

BACKGROUND: The major histocompatibility complexes, MHC class I and II, are found only sparsely or not at all in the retina. Since the eye is immunoprivileged, we decided to investigate how the MHC class I and II antigens were influenced by a retinal transplant and whether this could be correlated to rejection of the transplant. METHODS: Fetal neural retinas of Sprague-Dawley (SD) rats were implanted in the subretinal space of adult Lewis and SD rats. After 5 weeks the retinas and the transplants were evaluated with antibodies against MHC class I and II antigens as well as microglia. RESULTS: In the syngeneic transplants no upregulation of MHC class I antigen was seen and no MHC class II-positive cells could be detected. In the allogeneic transplants, on the other hand, there was marked upregulation of MHC class I antigen. Numerous MHC class II antigen-positive cells were seen in the subretinal transplant but also in the host retina. CONCLUSION: Allogeneic retinal transplants seem to grow and thrive just as well as syngeneic transplants, but in the former there is considerable upregulation of MHC expression. Our interpretation of these results is that the allogeneic transplants are recognized as nonself, but that there is also something that modifies this reaction of the immune system at this level, preventing the rejection that would normally ensue.     

Principles in management of complex pediatric genitourinary plexiform neurofibroma

Neurofibromatosis is a hamartomatous disorder of neural crest derivation characterized by cutaneous pigmentation and tumor formation in various tissues. Visceral involvement is typically insidious, progressive, and difficult to treat. Plexiform neurofibroma of the urinary tract is rare. Involvement of nearly every genitourinary structure by these lesions has been reported, with the bladder being most commonly involved. In part due to the small number of patients seen at any one institution and the highly variable location and extent of this disease process, a plan for management of individuals with genitourinary neurofibromatosis has not been proposed. In an attempt to define specific goals in treatment of such patients, we reviewed our population of 260 pediatric patients with type 1 neurofibromatosis. We present our series of 5 patients with complex genitourinary lesions and describe specific management principles.     

Alterations of microsatellites in neurofibromas of von Recklinghausen's disease

von Recklinghausen's disease, or type I neurofibromatosis, a common familial tumor syndrome, is characterized by the occurrence of multiple benign neoplasms of nerve sheath cells. The disease is caused by germ-line mutations of the NF1 gene, which encodes a member of the GTPase-activating superfamily of Ras regulatory proteins. We analyzed 5 dinucleotide repeat loci in DNAs from neurofibromas and matched normal skin from 16 NF1 patients. Eight cases (50%) manifested microsatellite alterations. Expansions or compressions of dinucleotide repeats were observed at one locus in four cases and at two loci in one case. Banding patterns compatible with the loss of a microsatellite allele were observed in four cases, including one that also presented microsatellite instability. The surprisingly high frequency of microsatellite alterations suggests that the NF1 gene or another gene(s) contributing to the pathogenesis of neurofibromas might be directly or indirectly implicated in the control of genomic integrity.     

Spontaneous haemothorax associated with von Recklinghausen's disease: review of occurrence in Japan

The case history is presented of a 61 year old man with von Recklinghausen's disease who developed a spontaneous haemothorax. In spite of being asymptomatic for five days after drainage, he died as a result of fatal sudden re-bleeding. The post mortem examination showed dissection and rupture of the left subclavian artery. Microscopically, disarrangement of smooth muscle and decrease of elastic fibre was observed in the ruptured artery. Haemothorax in patients with von Recklinghausen's disease may require thoracotomy, even if the condition of the patient appears to be stable.     

Multiple small intestinal stromal tumors with skeinoid fibers in association with neurofibromatosis 1 (von Recklinghausen's disease)

A case of multiple small intestinal stromal tumors (SIST) with skeinoid fibers of the jejunum arising in a 50 year old male with neurofibromatosis 1 (NF-1) is reported. Seven small tumors of the jejunal wall were incidentally found and excised during an operation for abdominal and retroperitoneal neurofibromas. Histologically, the tumors were composed of uniform spindle-shaped cells with fascicular pattern, almost indistinguishable from the histology in leiomyoma. Periodic acid Schiff stain-positive hyaline globules were observed among the tumor cells. Ultrastructurally, these globules were stromal tangles of curvilinear, fluffy fibrils, consistent with skeinoid fibers. The electron-dense granules, possibly neuro-secretory granules, were found in the cytoplasm of the tumor cells. Immunohistochemically, the tumor cells were positive for vimentin, neuron specific enolase and CD34, but negative for muscle markers and S100 protein. The association of NF-1 and multiple SIST with skeinoid fibers may have clinical implications. The multiple occurrence of SIST with skeinoid fibers seems to be often cited as one of the gastrointestinal manifestations of NF-1. The possible site of origin of SIST with skeinoid fibers in NF-1 may be the enteric autonomic nerve plexus in the small intestinal wall.     

Correction of a dystrophic cervicothoracic spine deformity in Recklinghausen's disease

A case is presented of a 14-year-old boy with neurofibromatosis who had a 92 degrees dystrophic kyphosis (as measured on radiographs between C3 and C7) of the cervical spine. He was treated successfully by posterior stabilization and anterior fusion using a free vascularized fibula graft. This method appears to be an attractive alternative to an avascular fibula graft and avoids the risk of graft resorption (creeping substitution), weakening (fracture), or nonunion during the process of bony consolidation. It provides a stable and longstanding anterior strut, essential in the management of high grades of kyphosis. At 1-year followup the patient has no symptoms, is fully mobile, and shows radiographically complete incorporation of the graft with no loss of correction.     

Ileus caused by Recklinghausen's disease of the jejunum

Obstruction of the jejunum diagnosed during operation in a female patient with an ileous state. The patient had a history of loss of body weight, intermittent abdominal spastic pain in the umbilical region, fatigue, vomiting, histologically evaluated as a jejunal manifestation of Recklinghausen's disease.     

Anesthetic considerations in the child with Gaucher disease

Alpidem, an imidazopyridine that acts at the gamma-aminobutyric acid/benzodiazepine receptor complex, has been reported to be an effective anxiolytic with a more favorable side effect profile than benzodiazepines. The effect of alpidem was investigated in an 8-week, open, clinical trial in 13 patients with panic disorder, with or without agoraphobia. Three patients were responders (much improved or very much improved), five patients were nonresponders, and five patients dropped out after less than 6 weeks of treatment. Significant improvement was seen in the sample as a whole for spontaneous panic attacks, phobic avoidance, and anticipatory anxiety. Most improvement occurred during the first 4 weeks of treatment, and responders had milder panic disorder at baseline. Adverse effects were generally mild. After 8 weeks of treatment, taper of medication over 2 weeks occurred without significant worsening of panic disorder symptoms. The efficacy of alpidem in the treatment of panic disorder remains uncertain and requires assessment in a controlled trial.     

Percutaneous transluminal coronary angioplasty in a child with Kawasaki disease

A successful attempt at percutaneous transluminanl coronary angioplasty (PTCA) to relieve stenosis of the mid-portion of the left anterior descending artery was achieved in a 6-year 9-month old boy who had multiple coronary aneurysms and stenosis due to Kawasaki disease. Despite the progression of coronary stenosis he had been well except for the perfusion defect of the anterior wall of myocardium on 99mTc-MIBI SPECT with dipyridamole infusion until PTCA was carried out after 4-year 4-months of the onset of illness. The area of stenosis was 70% before PTCA and 20% after PTCA. No restenosis at the site of PTCA was observed on follow-up angiography at 26 months after PTCA. This successful attempt may indicate that this procedure should be considered early in subclinical stenosis to prevent ischemic cardiac damage.     

Tuberculosis in Hodgkin's disease in a child

During its evolution, Hodgkin disease is accompanied by changes in the cell immunity, mainly of delayed type. Tuberculosis can precede Hodgkin disease or complicate its evolution during a simultaneous development of both diseases, or the lymph node tuberculosis can hurry hemopathy onset. Tb lesions in such patients can have atypical features.