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We present an atypical case of neurofibromatosis marked by young age at onset, rapid invasiveness of the tumor, the presence of curious autonomic symptoms, cranial malformation and congenital microphthalmus, a combination that suggests a new syndrome, which might be called childhood microphthalmic neurofibromatosis.
Few MRI studies have been performed on subjects with Von Recklinghausen's neurofibromatosis. This not very well-known disease present lesions which in many cases do not appear on CT scans but may be detected by MRI. The nature of such lesions is still controversial. This paper will describe the case of a 7 year-old girl with neurofibromatosis. MRI examination revealed altered signals in some areas: in the basal nuclei, in the brainstem and in the white matter of the cerebellar hemispheres.
Patients with neurofibromatosis have an increased incidence of acoustic neuroma, which is often bilateral. We present three patients with neurofibromatosis and enlarged internal auditory canals secondary to dural ectasia, without associated acoustic neuromata. Air CT cisternography and Metrizamide CT cisternography was needed in differentiating dural ectasia from acoustic neuroma in two patients.
Three children with both childhood psychosis and neurofibromatosis are reported from a total population screening of psychotic disorder in childhood that had produced 51 cases born in the years 1962-1976 in the Göteborg region, Sweden. The findings suggest that the simultaneous occurrence of neurofibromatosis and childhood psychosis might be more than a coincidence. Underlying monoaminergic dysfunction is postulated as one possible reason for the finding.
A case of myocardial infarction secondary to thrombosis of a coronary artery aneurysm in a patient with neurofibromatosis is presented. The vascular manifestations of neurofibromatosis, and the associated clinical sequelae, are reviewed.
We report a case of bilateral acoustic neurofibromatosis which presented with the atypical symptom of sudden sensorineural deafness. Following corticosteroid therapy the hearing loss returned to near normal levels. The pathogenesis of reversible sudden sensorineural hearing loss in the presence of an acoustic neuroma is discussed. The importance of Gadolinium-enhanced magnetic resonance imaging in the detection of bilateral acoustic neurofibromatosis is highlighted by the case report.
HISTORY AND CLINICAL FINDINGS: A 50-year-old woman has had diffuse abdominal symptoms for approximately 2 weeks. For 30 years a von Recklinghausen's neurofibromatosis has been known. INVESTIGATIONS: Clinically and chemically there was a cholestasis (alkaline phosphatase 244 U/l, gamma GT 83 U/l) with uneventful values for transaminases and bilirubin. The hepatitis serology (A, B, C) as well as the AMA were negative. Somatostatin with 73 ng/l was slightly increased. Ultrasonography revealed a low-grade intrahepatic cholestasis, the ductus pancreaticus was extended to 9 mm, while endoscopic retrograde cholangiopancreatography showed an extended pancreatic duct without inflamed changes as well as an extended intra- and extrahepatic gall duct system without detecting a stone. The oesophagogastroduodenoscopy showed a polypoid tumor 3 cm above the Papilla Vateri which is part of a neuroendocrine tumor of the carcinoid type, immunoreactive towards somatostatin. TREATMENT AND COURSE: In the framework of the surgical intervention carried out by extirpation of the polypoid tumor above the Papilla Vateri by segment excision with a duodeno-duodenostomy. Within a period of 15 months, the patient was free from a tumor relapse or metastasis. CONCLUSION: Carcinoid tumors should always be considered in patients who have von Recklinghausen's neurofibromatosis in combination with abdominal pain in the duodenal area, especially if cholestasis parameters and bilirubin are high or if gastrointestinal bleeding occurs.
Iris nodules in neurofibromatosis I have become an important tool in the differential diagnosis of phakomatoses. The clinical appearance and importance of these nodules first recognized by Karl Lisch in Munich in 1937. The diagnosis and differential diagnosis of Lisch nodules are illustrated. The importance of iris nodules in genetic counselling of patients and their relatives is discussed, with emphasis on monosymptomatic cases. Histologically Lisch nodules are formed by aggregations of oval to round cells that form dome-shaped papules on the anterior layer of the iris. Immunohistochemically these cells are characterized by positive staining with antibodies against vimentin and S-100 protein. This proves their ectodermal differentiation. Thus Lisch nodules can be seen as a direct manifestation of neuroectodermal disturbances in neurofibromatosis I.
Cognitive impairment in neurofibromatosis type I (NF1) has only recently attracted interest. In addition to previous studies in children, our own investigation of 20 patients confirms the slightly lowered psychometric test scores also for adults with NF1. Molecular manipulation of the neurofibromin gene leads to learning disorders in the mouse model ("cognitive neurogenetics"). It is not just faulty brain development that underlies these findings: neurofibromin plays a role in signal transduction cascades that are active during learning and memory throughout the life span. Thus, it appears possible to cure the cognitive defects at least in the mouse ("cognitive enhancement"). In man, an early diagnosis of NF1 is presently essential in order to provide specific remedial education for children affected by the learning disorder of neurofibromatosis type I.
We describe the clinical and imaging findings of brain stem tumours in patients with neurofibromatosis type 1 (NF1). The NF1 patients imaged between January 1984 and January 1996 were reviewed and 25 patients were identified with a brain stem tumour. Clinical, radiographical and pathological results were obtained by review of records and images. Brain stem tumour identification occurred much later than the clinical diagnosis of NF1. Medullary enlargement was most frequent (68%), followed by pontine (52%) and midbrain enlargement (44%). Patients were further subdivided into those with diffuse (12 patients) and those with focal (13 patients) tumours. Treatment for hydrocephalus was required in 67% of the first group and only 15% of the second group. Surgery was performed in four patients and revealed fibrillary astrocytomas, one of which progressed to an anaplastic astrocytoma. In 40% of patients both brain stem and optic pathway tumours were present. The biological behaviour of brain stem tumours in NF1 is unknown. Diffuse tumours in the patients with NF1 appear to have a much more favourable prognosis than patients with similar tumours without neurofibromatosis type 1.
Cranial and cervical vessels are rarely involved in neurofibromatosis type 1. Stenoses and occlusion due to intimal or medial dysplasia are most often seen, followed by aneurysms. We report a rare asymptomatic giant aneurysm of the vertebral artery in a 59-year old man with von Recklinghausen's neurofibromatosis and review the literature.
A Doppler sonographic guidewire was used to monitor incremental changes in draining vein (DV) flow during endovascular occlusion of a complex vertebral arteriovenous fistula (AVF) in a patient with neurofibromatosis type 1. Transvenous monitoring of average peak velocity (APV) and the maximum-minus-minimum peak velocity (MxPV-MnPV) demonstrated a progression from a highly pulsatile, fast flow before embolization to a nonpulsatile, slow flow indicating a successful occlusion of the AVF (hemodynamic endpoint of treatment). Prior to this, apparent angiographic occlusion of the AVF was thought to signify a successful endpoint; however, persistently elevated values for APV and MxPV-MnPV in the DV signalled the presence of an additional contralateral arterial contribution. Transvenous monitoring of flow velocity appears to be ideally suited to establishing a hemodynamic endpoint of embolotherapy in the presence of complex arteriovenous shunting, as may occur with the vasculopathy of neurofibromatosis.
The Miller-Dieker syndrome (type I lissencephaly) is a neuronal migration disorder which is associated with microdeletions in the short arm of chromosome 17. Neurofibromatosis type I (NF1) is an autosomal dominant condition associated with mutations in the long arm of chromosome 17, and characterised by neurofibromas, café-au-lait spots and axillary freckling. The neonatal period for a female infant born at 39 weeks gestation by emergency Caesarean section was complicated by frequent epileptic seizures as well as hypotonia. A computed tomography scan revealed evidence of lissencephaly, and chromosomal analysis showed a microdeletion on the short arm of chromosome 17 (17p13.3), confirming the diagnosis as Miller-Dieker syndrome. The child died at the age of 4 years and examination of the brain confirmed lissencephaly with a thickened cortex, deficient white matter, and grey matter heteropias. The mother had café-au-lait spots, and axillary freckling. In addition, the mother's and maternal grandmother's genetic analysis showed identical mutations in the neurofibromatosis I gene on the long arm of chromosome 17, confirming the diagnosis of NF1. The child did not possess the mutation. This case illustrates a rare neuronal migration disorder appearing in a child from a family with a history of NF1.
BACKGROUND: Choroidal abnormality manifesting as a bright patchy lesion under infrared monochromatic light has previously been described in neurofibromatosis type I patients in whom the choroid appears normal under conventional ophthalmoscopic examination or on the fluorescein angiogram. We investigated the correlation between patient age and the number of choroidal abnormalities, as well as the anatomic distribution of choroidal abnormalities in the fundus. METHODS: We examined the fundus of 28 eyes in 14 patients with neurofibromatosis type I. Patients ranged in age from 2 to 38 years and were examined between April 2001 and April 2002 by confocal scanning laser ophthalmoscopy with infrared monochromatic light (780 nm wavelength). We divided the fundus into five regions (one within the retinal vascular arcade and those supero-temporal, infero-temporal, supero-nasal, and infero-nasal to it), and lesions on the border between regions were assigned to the region containing the greater part of the lesion. We studied the total number of choroidal abnormalities and the correlation between the total number and age. RESULTS: A positive correlation was found between the total number of choroidal abnormalities and age (Spearman rank correlation coefficient, r=0.6209, P=0.0178). There was a significantly greater number of choroidal abnormalities in the arcade region than in the other four regions (ANOVA, P<0.001). CONCLUSIONS: Choroidal abnormalities tend to increase with age and are most often observed within the vascular arcade.
We describe the histological finding in two cases of gynecomastia in patients with von Recklinghausen's disease. The histological and immunohistochemical features of the two cases were reviewed and compared with those of five cases of gynecomastia in men without clinical evidence of neurofibromatosis. In both patients bearing von Recklinghausen's disease, the breast stroma showed features consistent with pseudoangiomatous stromal hyperplasia (PASH). It was characterised by anastomosing empty spaces lined by spindle and multinucleated giant cells which were positive with CD34 and anti-vimentin antisera and negative with anti-FVIII and CD31 antisera. In two of five of the control cases without neurofibromatosis, the mammary stroma showed focal areas with features of PASH, but no multinucleated giant cells were present in any case. PASH with giant cells should be recognised as a feature of gynecomastia in von Recklinghausen's disease. The presence of multinucleated giant cells is very unusual and, although more cases have to be studied, these cells seem to be a feature of PASH occurring in patients with von Recklinghausen's disease.
Neurofibromatosis type I patients usually present themselves with multiple neurofibromas and cafe-au-lait spots. We report a case with an intracerebral haemorrhage as an uncommon feature of the disease. The clinical, radiological, neurosurgical and histological features of this case are discussed and a review of the literature on the broad spectrum of neurofibromatosis is presented. The etiological factors and clinical consequences of this and other cerebrovascular features are briefly discussed.
Abdominal aortic coarctation and renal artery stenosis associated with neurofibromatosis is an unusual cause of renovascular hypertension in children and young adults. Sustained hypertension despite pharmacological treatment carries significant end-organ deterioration, failure to thrive, and potentially lethal complications. Timely arterial reconstruction can render these children normotensive, allowing normal development and reducing long-term morbidity. Progression of the arterial occlusive process, however, may occur after surgery. Therefore, careful follow-up is mandatory following aortorenal reconstruction in children with neurofibromatosis.
Neurofibromatosis is characterized by its cutaneous manifestations. It also is manifested by arterial lesions commonly found in arterioles and small arteries but rarely in large arteries. We present a patient with type I neurofibromatosis with spontaneous rupture of his abdominal aorta. He was found at the time of emergency laparotomy to have direct compression of his aorta by retroperitoneal neurofibromas and abnormal aortic structural wall integrity.