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PubMedDate not supplied

[Von Recklinghausen's disease and intestinal neurofibromatosis: a case report].

We report the case of a patient with von Recklinghausen's disease, who was admitted with a diagnosis of acute abdomen due to small bowel neurofibromatosis. The patient was submitted to an abdominal CT scan that showed a homogeneous round lesion, with a regular margin, probably belonging to the small bowel and with the appearance of a benign lesion that probably caused an intestinal intussusception. The patient was submitted to a surgical procedure that mainly consisted in multiple small bowel resections. The histopathological examination confirmed the benign nature of the lesions. About one third of patients affected by von Recklinghausen's disease present involvement of the bowel, but only 5% of them are symptomatic. The intestinal tumours are usually neurofibromas and are mainly localized in the jejunum. However, there have also been reports of stromal, nervous and endocrine tumours and even other tumours not belonging to these categories, including adenocarcinoma. The overall incidence of intestinal malignancy in patients with von Reckilnghausen's disease is about 10%. The surgical operation, as well as the histopathological and immunochemical examination of the intestinal lesions are of crucial importance for the treatment of the complications of intestinal neurofibromatosis and for the treatment and diagnosis of malignancy.

Abdomen, Acute↗
PubMed1992

[Neurinomas of the trigeminal nerve in neurofibromatosis. Apropos of two cases and review of the literature].

We report two cases of trigeminal neuroma in patients with Von Recklinghausen neurofibromatosis (NF1). Despite the high frequency of intracranial neuroma in neurofibromatosis, the localization on the fifth cranial nerve is an uncommon findings. In our two cases, neuromas were asymptomatic clinically and electrophysiologically, but computed tomography showed a small nodular lesion in the cerebellopontine cistern, independent of the seventh and eight nerve and which can only correspond to the fifth nerve. MR imaging very clearly demonstrates intracranial neuromas of all cranial nerves.

Adult↗
PubMed2003

Orbit deformities in craniofacial neurofibromatosis type 1.

BACKGROUND AND PURPOSE: The possible relationship of orbit deformities in neurofibromatosis type 1 (NF1) to plexiform neurofibromas (PNFs) have not been fully elucidated. Our purpose was to review orbital changes in patients with craniofacial NF1. METHODS: We retrospectively reviewed CT and MR imaging abnormalities of the orbit in 31 patients (18 male, 13 female; mean age, 14 years; age range 1-40 years) with craniofacial NF1. RESULTS: Orbital abnormalities were documented in 24 patients. Six had optic nerve gliomas with enlarged optic canals. Twenty had PNFs in the orbit or contiguous to the anterior skull. The posterior orbit was distorted by encroachment from an expanded middle cranial fossa in 13 patients, and 18 had enlargement of the orbital rim. Other changes included focal decalcification or remodeling of orbital walls adjacent to PNFs in 18 patients and enlargement of cranial foramina resulting from tumor infiltration of sensory nerves in 16. These orbital deformities were sometimes progressive and always associated with orbital infiltration by PNFs. CONCLUSION: In our patients with craniofacial neurofibromatosis, bony orbital deformity occurred frequently and always with an optic nerve glioma or orbital PNF. PNFs were associated with orbital-bone changes in four patterns: expansion of the middle cranial fossa into the posterior orbit, enlargement of the orbital rim, bone erosion and decalcification by contiguous tumor, and enlargement of the cranial foramina. Orbital changes support the concept of secondary dysplasia, in which interaction of PNFs with the developing skull is a major component of the multifaceted craniofacial changes possible with NF1.

Adolescent↗
PubMed1992

Unilateral acoustic neuromas in childhood without evidence of neurofibromatosis: case report and review of the literature.

A six-year-old female with a unilateral benign acoustic neuroma and no evidence of neurofibromatosis is presented. Review of the literature revealed only 16 cases of unilateral acoustic neuromas in children less than 15 years old. Children often do not appreciate hearing loss when compared with adults. As a result, they often present with larger tumors, thus adversely affecting outcome. The need for early diagnostic tests and a hearing-conservation surgical approach is emphasized. Routine follow-up imaging studies are crucial to rule out the development of a contralateral acoustic neuroma in neurofibromatosis-2 (NF-2).

Audiometry↗
PubMed2003

p15INK4b, p14ARF, and p16INK4a inactivation in sporadic and neurofibromatosis type 1-related malignant peripheral nerve sheath tumors.

PURPOSE: Malignant peripheral nerve sheath tumor (MPNST) can arise sporadically or in association with neurofibromatosis type 1. Deletions at the 9p21 locus have been reported in these tumors. To additionally characterize the status of this chromosomal region, in this study we performed a comprehensive, mostly PCR-based molecular analysis of the three tumor suppressor genes p15(INK4b), p14(ARF) and p16(INK4a) located at the 9p21 locus in 26 cryopreserved MPNSTs. EXPERIMENTAL DESIGN: Fourteen neurofibromatosis type 1-related and 12 sporadic cases were investigated for homozygous deletion coupled with fluorescent in situ hybridization, promoter methylation, and mutational analysis, as well as m-RNA expression. RESULTS: The results showed that an inactivation of one or more genes occurred in 77% of MPNSTs and was mainly achieved through homozygous deletion (46%), which, in turn, encompassed all of the three tandemly linked genes in 83% of the deleted cases. Promoter methylation was at a less extent involved in gene silencing (18%), and no mutations were found. Loss of function at DNA level strongly correlated with loss of mRNA expression accounting for 80% of the cases. Because of the close relationship between p14(ARF) and TP53 and between p15(INK4b)/p16(INK4a) and Rb, these results support a model of a coinactivation of TP53 and Rb pathways in 75% of MPNSTs, with functional consequences on cell growth control and apoptosis. CONCLUSIONS: The inactivation of the 9p21 locus is a frequent and peculiar hallmark of MPNST genetic profile leading also to an impaired apoptosis that could be taken into account in treatment planning of these tumors.

Adult↗
PubMedDate not supplied

[Neurofibromatosis in children. Our experience].

INTRODUCTION: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with a high index of spontaneous mutations and extremely varied and unpredictable clinical manifestations. It is diagnosed by the existence of certain clinical criteria which cannot appear until adulthood. PATIENTS AND METHODS: The clinical histories of the confirmed or possible cases of neurofibromatosis (NF) in the neuropaediatric databases at the Hospital Miguel Servet in Zaragoza and at the Hospital General in Guadalajara were analysed retrospectively. RESULTS: Cases were distributed in 46 NF1, six compatible with NF1, 11 with just marks, five with marks and a family history of marks, and two cases of segmentary NF. Among the confirmed cases of NF1, the following alterations were found: optic glioma (OG) in eight, and one of them developed a glioblastoma multiforme, multiple radicular neurofibromas in one, mental retardation in one and learning disorders in 13 of the 29 school aged children, afebrile seizures in three, precocious puberty in two and scoliosis in nine. Brain areas with hypersignals were found in 71% of the cases submitted to magnetic resonance imaging (MRI) (20 out of 28), including seven of the eight patients suffering from OG. DISCUSSION: Our case mix, like all the others, exemplifies the clinical heterogeneity and unpredictable progression of children with NF1 or who are suspected of suffering from it. We followed the most widely used method of clinical and ophthalmological control, and complementary examinations were performed according to the clinical features. If neuroimaging is used, it must be MRI.

Brain↗
PubMed2003

Neurofibromatosis type 2.

Neurofibromatosis type 2 (NF2) is often not recognised as a distinct entity from peripheral neurofibromatosis. NF2 is a predominantly intracranial condition whose hallmark is bilateral vestibular schwannomas. NF2 results from a mutation in the gene named merlin, located on chromosome 22. The disease has a variable presentation, with the severe subtype having an early and rapid progression and the milder type having a later onset and a less aggressive course. The diagnosis and management of these patients present a unique challenge. There are also implications for the family members as half the cases are inherited. We discuss the genetic characteristics, clinical presentation, natural history, diagnostic criteria, investigations, screening and management of this condition.

Chromosomes, Human, Pair 22↗
PubMed2003

Recurrent malignant schwannoma of the parapharyngeal space in neurofibromatosis type 1.

Malignant schwannoma is an aggressive tumor that carries a poor prognosis despite wide excision, chemotherapy, and radiotherapy. Malignant schwannoma of the parapharyngeal space is an uncommon finding; to our knowledge, only four cases have been described in the literature during the past 30 years, and only one of them involved a patient who had clinical evidence of neurofibromatosis type 1. In this article, we describe a new case of malignant schwannoma of the parapharyngeal space in a patient who had clinical evidence of neurofibromatosis type 1. Following resection of the tumor and a total parotidectomy, the diagnosis was made on the basis of histology and immunohistochemistry. The patient underwent postoperative chemotherapy with carboplatin and UP16. However, 5 months following surgery, the tumor recurred and metastasized. The patient was then placed on a different polychemotherapeutic regimen, which was made up of 3 g/m2 of ifosfamide, 1.5 mg/m2 of vincristine, and 1.5 mg/m2 of doxorubicin (IVA2 protocol). The IVA2 regimen slowed tumor growth, but 13 months after the initiation of therapy, the patient died of neoplastic cachexia. Although chemotherapy is generally ineffective in most cases of malignant schwannoma, we did experience some positive results with the IVA2 protocol. Therefore, we recommend that this combination be considered as a first-line adjuvant therapy following surgery or as a first-line therapy for patients with inoperable tumors.

Adult↗
PubMed2004

Rapid development of optic glioma in a patient with hybrid phakomatosis: neurofibromatosis type 1 and tuberous sclerosis.

Increased propensity for tumor formation in neurofibromatosis and tuberous sclerosis exists because of defective tumor-suppressor genes. Although different tumor-suppressor genes may be involved in neurofibromatosis and tuberous sclerosis, at the cellular level these genes share rather common enzymatic pathways. We believe these genetic malfunctions have resulted in a cumulative or additive effect for rapid growth of optic glioma in the following unusual case that has hybrid phakomatosis.

Female↗
PubMed2003

[Spontaneous regression of basal ganglia lesions in a case of neurofibromatosis type 1 (case report)].

Neurofibromatosis type 1 is characterized on magnetic resonance imaging by optic nerve gliomas, parenchymal gliomas, and foci of prolonged T2 relaxation involving the brainstem, cerebellum, midbrain, internal capsule, and basal ganglia. We report a child with neurofibromatosis type 1 in whom serial magnetic resonance imaging demonstrates spontaneous regression of basal ganglia lesions. These lesions, characterized on magnetic resonance imaging by increased signal intensity on T1- and T2-weighted sequences, involved the globus pallidus and internal capsules in a bilateral fashion.

Basal Ganglia Diseases↗
PubMed1992

A clinical study of type 2 neurofibromatosis.

The clinical features, age at onset of symptoms and survival of 150 patients with type 2 neurofibromatosis were studied. The mean age at onset was 21.57 years (n = 110) and no patients presented after 55 years of age. Patients presented with symptoms attributable to vestibular schwannomas (acoustic neuroma), cranial meningiomas and spinal tumours. In 100 patients studied personally by the authors 44 per cent presented with deafness and this was unilateral in the majority (35/44). Deafness was accompanied by tinnitus in a further 10 per cent and muscle weakness or wasting was the first symptom in 12 per cent. Less common presenting symptoms were seizures (8 per cent), vertigo (8 per cent) numbness and tingling (2 per cent) and blindness (1 per cent). Eleven patients were diagnosed asymptomatically through screening. Café au lait spots occurred in 43 per cent (n = 43) but only one case had six. Skin tumours were detected in 68 per cent (68/100) and 38 per cent (34/90) had an identifiable lens opacity or cataract. The mean age at death in 40 cases was 36.25 years and all but one death was a result of a complication of neurofibromatosis. There are marked inter-family differences in disease severity and tumour susceptibility.

Adult↗
PubMed2003

[Small bowel neurofibromatosis in Von Recklinghausen's disease. A rare cause of emergency surgery].

Two cases of small bowel neurofibromatosis in patients with Von Recklinghausen's disease are reported. Diagnosis of small bowel neurofibromatosis was made on the occasion of a complication for the two cases. We insist on the difficulty of diagnosis as well as in presence or not of complications. Treatment of these most often benign tumours remains surgical based on a segmental small bowel resection.

Adult↗
PubMed2005

Spontaneous hemothorax caused by a ruptured intercostal artery aneurysm in von Recklinghausen's neurofibromatosis.

Aneurysms arising from an intercostal artery are very rare vascular malformations in von Recklinghausen's neurofibromatosis, which often have a silent clinical presentation and are difficult to diagnose before rupture. We report a case of von Recklinghausen's neurofibromatosis with massive hemothroax caused by spontaneous rupture of an intercostal artery aneurysm in a 29-year-old man. The diagnosis was eventually confirmed by percutaneous angiography and treated with endovascular embolization. During a 10-month follow-up period, the patient had a satisfactory recovery. This case illustrates that angiography and possible endovascular embolization should be the first strategy in managing hemothorax in patients with von Recklinghausen's disease.

Adult↗
PubMed2005

Epigastric pain in a patient with neurofibromatosis type 1.

Patients with neurofibromatosis type 1 are at increased risk of developing carcinoid tumours of the duodenum, particularly in the ampulla of Vater. Aggressive surgery with pancreatoduodenectomy is recommended for all ampullary carcinoid tumours because of their propensity to metastasise. We report a case of a 43-year-old woman with neurofibromatosis type 1, who presented with recurrent epigastric pain for 15 months. Evaluation using magnetic resonance cholangiopancreatography and side-viewing duodenoscopy revealed a submucosal tumour at the ampulla of Vater causing pancreatobiliary ductal obstruction and dilation. The ampullary tumour was overlooked initially by forward-viewing endoscopy. The patient subsequently underwent pancreatoduodenectomy. Histological examination of the surgically resected specimen confirmed the presence of a carcinoid tumour, with metastasis to peri-pancreatic lymph nodes. She remained asymptomatic 10 months after surgery.

Abdominal Pain↗
PubMed2005

[Type 1 neurofibromatosis and epilepsy].

Epilepsy has been rarely reported with type 1 neurofibromatosis (Reckling Hausen disease). It may occur in 3 to 6% of cases. We report in this study three cases of patients with type 1 neurofibromatosis associated with epilepsy. The patients were respectively 23, 30 and 35 years old. Epilepsy was focal and complex in one patient, generalized in one case and simply focal in another one. Cerebral MRI showed sphenoidal dysplasia and temporal lobe ectopy compressing orbital structures in one patient and normal in the other cases. We discuss trough these three cases the relationship between Reckling Hausen disease and epilepsy.

Adult↗
PubMed2005

Pneumosinus dilatans and orbital meningioma in neurofibromatosis type 2.

We report on a 9-year-old boy with neurofibromatosis type 2 and a progressive proptosis of the left eye. Imaging studies revealed a pneumosinus dilatans of the left ethmoidal and frontal sinuses and an adjacent left orbital mass. Incision biopsy of the orbital mass showed a meningiothelial meningioma. Orbital and intracranial meningiomas are frequently associated with pneumosinus dilatans. This report illustrates the relationship of pneumosinus dilatans, intra-orbital meningioma and neurofibromatosis type 2.

Child↗