Estudio clínico y molecular en pacientes cubanos con neurofibromatosis tipo i

Introducción: La neurofibromatosis tipo i es una enfermedad hereditaria, autosómica dominante, multisistémica, progresiva con penetrancia completa y expresividad variable. El análisis de las familias con marcadores moleculares permite realizar el diagnóstico por métodos indirectos. Objetivos: Estudiar dos familias cubanas con al menos un caso de neurofibromatosis tipo i e identificar los alelos resultantes del polimorfismo para el diagnóstico molecular. Métodos: Se realizó un estudio descriptivo a dos familias con al menos un caso de neurofibromatosis tipo i. Se extrajo el ADN con la técnica de precipitación salina y fue utilizada la reacción en cadena de la polimerasa para la amplificación del fragmento de interés. Se realizó la digestión enzimática con la enzima Rsai para analizar los alelos del polimorfismo estudiado y posteriormente hacer la electroforesis en gel de agarosa al 2 %. Resultados: Las manifestaciones clínicas más frecuentes fueron las manchas color café con leche, pecas axilares e inguinales y lesiones óseas. Se detectaron los alelos 1 y 2 al analizar el polimorfismo en las muestras. Las frecuencias alélicas fueron 38,5 % y 61,5 % respectivamente. Conclusiones: Fueron identificadas las principales manifestaciones clínicas en los pacientes. La técnica para el análisis del polimorfimo permitió el estudio molecular en las familias con neurofibromatosis tipo i. Se detectaron los alelos del marcador molecular y sus frecuencias. Se realizó el diagnóstico molecular de los individuos sospechosos.

Introduction: Neurofibromatosis type i is a hereditary, autosomal dominant, multisystemic, progressive disease with complete penetrance and variable manifestation. The analysis of families with molecular markers allows diagnosis by indirect methods. Objectives: To study two Cuban families with at least one case of neurofibromatosis type i and to identify the alleles resulting from the polymorphism for molecular diagnosis. Methods: A descriptive study of two families with at least one case of neurofibromatosis type i was performed. DNA was extracted with the saline precipitation technique and polymerase chain reaction was used for amplification of the fragment of interest. Enzymatic digestion was performed with the RsaI enzyme to analyze the alleles of the polymorphism studied and then to perform electrophoresis in 2% agarose gel. Results: The most frequent clinical manifestations were café-au-lait spots, axillary and inguinal freckles and bone lesions. Alleles 1 and 2 were detected when analyzing the polymorphism in the samples. The allele frequencies were 38.5 % and 61.5 % respectively. Conclusions: The main clinical manifestations in patients were identified. The technique for polymorphism analysis allowed the molecular study in the families with neurofibromatosis type i. The alleles of the molecular marker and their frequencies were detected. Molecular diagnosis of suspected individuals was performed.

Neurofibromatosis laríngea: a propósito de un caso / Laryngeal neurofibromatosis: a case report

Resumen El neurofibroma laríngeo es poco frecuente, representa menos del 0,1% de las neoplasias benignas de la laringe. Puede presentarse aislado, o más comúnmente asociado a neurofibromatosis tipo I. Se presenta el caso de un paciente varón de 40 años, ya diagnosticado de neurofibromatosis tipo I, que presenta masa supraglótica submucosa asintomática, diagnosticada como hallazgo casual en una intubación por una cirugía previa programada.

Abstract Laryngeal neurofibroma is rare, representing less than 0.1% of benign tumors of the larynx. It can occur in isolation or more commonly associated with type I neurofibromatosis. The case of a 40-year-old male patient, already diagnosed with type I neurofibromatosis, is presented with an asymptomatic submucosal supraglottic mass, diagnosed as a chance finding in intubation due to a previous scheduled surgery.

Oral Lesions in Neurofibromatosis Type I: Report of a Case and Clinical Implications.

Neurofi broma is a benign peripheral nerve sheath tumor and one of the most frequent tumors of neural origin. Its presence is one of the main clinical criteria for the diagnosis of neurofi bromatosis Type I (NF-I). NF-I is a hereditary disorder inherited as an autosomal dominant trait and the patients present with skin lesions, i.e., café au lait spots and neurofi bromas. Diagnosis is mainly based on a series of clinical criteria. NF-I may present with defi nite oral lesions, which mandate the dental surgeons with the responsibility of accurate diagnosis. Th e paper emphasizes the role of an oral diagnostician in the recognition of NF-I in a family.

Case Reports and Estimated Prevalence of Adrenal Pheochromocytoma in Patients with Neurofibromatosis Type I in Korea

We report three patients with adrenal pheochromocytoma who were associated with type I neurofibromatosis. Two of them were asymptomatic, but one case involved hypertension. We reviewed medical records and adrenal imaging, and estimated the prevalence of adrenal pheochromocytoma among neurofibromatosis type I patients in one university hospital in Korea. A total of 658 patients were coded for neurofibromatosis type I (Q85.0 with International Classification of Diseases 10 version) with clinical impression, but only 371 were confirmed via 1997 National Institute of Health criteria. Adrenal images were generated in 203 patients, and 3 of them were diagnosed with pheochromocytoma. According to the results of this study, the estimated prevalence of adrenal pheochromocytoma in type I neurofibromatosis was 0.30-1.48%.

Neurofibromatosis: Neurofibroma plexiforme localizado en mama. A propósito de un caso / Neurofibromatosis: Plexiform Neurofibroma Localized In Mamma. A Propos Of A Case

La Neurofibromatosis fue descrita por Von Recklinghausen en 1882. Es una genodermatosis autosómica dominante con alta penetrancia, expresividad variable y curso progresivo; se calcula que en el 50% de los casos se deben a mutaciones espontáneas (de novo), con una incidencia de 1/3000 recién nacidos. Clínicamente se manifiesta por el compromiso de los tejidos derivados del neuroectodermo y mesodermo. Muestra alteraciones oculares, neurológicas, de partes blandas, cutáneas, óseas, endocrinológicas y lesiones viscerales. En la actualidad se admiten dos formas clínicas principales: la Neurofibromatosis clásica o de tipo I que representa el 85-90 % de los casos y la Neurofibromatosis tipo II (Neurofibromatosis del acústico bilateral) muy poco frecuente.

The Neurofibromatosis was described by von Recklinghausen in 1882. It is a dominant autosomic genodermatosis with a high penetration, variable clinic and progressive course; it is calculate, that in 50% of the cases the origin is a spontaneous mutations (novo). The incidence is 1/3000 newly born. The clinical manifestations are: the compromise of tissues derived from neuroectoderm and mesoderm. It also has ocular symptoms, visceral injuries, neurological alterations and endocrinological pathologies. Soft pars, cutaneous tissue and bones are affected. At the present time two main clinical forms are admitted: the Classic Neurofibromatosis or type I, that represents 85-90% of the cases and the Neurofibromatosis type II (Neurofibromatosis of the bilateral hearing aid) that it ´s not so frequent.

Rare association of Turner syndrome with neurofibromatosis type 1 and tuberous sclerosis complex.

We report a rare association of Turner syndrome with both Neurofibromatosis type I and Tuberous Sclerosis. The patient had XOkaryotype with Turners stigmata and also had features of Neurofibromatosis 1 in the form of significant café-au-lait spots and Plexiform neurofibroma along with typical features of Tuberous Sclerosis complex. Pedigree analysis revealed that the elder brother of the proband in the family also suffered from Tuberous Sclerosis without the manifestation of Neurofibromatosis or any other genetic disorders. We hypothesize that these associations could be due to new independent mutations and also increased maternal and paternal age in a pre-disposition of Turner syndrome.

A Lumbar Disc Herniation Misdiagnosed as A Neurofibromatosis Type I: A Case Report

We describe a rare case of an extradural disc herniation mimicking an extradural spinal tumor radiologically. It is often quite difficult to differentiate a sequestered disc from an extradural tumor when the discal fragments are migrated away from the origin. Distinguishable features of clinical and radiological characteristics between sequestered discs and benign intraspinal tumors were discussed. Although a well enhancing spherical mass in the spinal canal is routinely diagnosed as tumors, a free sequestered disc fragment also should be taken into consideration. This case demonstrates the role and the importance of contrast magnetic resonance imaging and of a clinical history in the diagnosis of disc herniation.

A Case of Early Gastric Adenocarcinoma and Intraabdominal Schwannoma in a Patient with Neurofibromatosis Type I / 대한소화기내시경학회지

Neurofibromatosis is an autosomal dominant hereditary disorder with an overall incidence of one in 3,000~4,000, and type 1 (Von Recklinghausen's neurofibromatosis) characterized by the presence of multiple cutaneous neurofibromas, axillary and groin freckling, and cafe- au-lait spot. The neurofibromatosis type 1 gene is a tumor suppressor gene. Patients with the neurofibromatosis type 1 are at increased risk of developing nervous system neoplasm, including plexiform neurofibromas, optic gliomas, ependymomas, meningiomas, astrocytomas, and pheochromocytomas. Neurofibromas may undergo secondary malignant degeneration and sarcomatous changes. Patients with neurofibromatosis type 1 show a high incidence of Wilm's tumor, rhabdomyosarcoma, nonlymphocytic leukemia, and pheochromocytoma but the gastrointestinal involvement appears to be relatively rare and usually consists of neurofibroma, ganglioneuroma, and leiomyoma. We have identified a case of early gastric adenocarcinoma and intraabdominal schwannoma in a 65-year-old man afflicted with neurofibromatosis type 1.

A Case of Moyamoya Disease with Neurofibromatosis Type I / 소아과

Neurofibromatosis type I is an autosomal dominant disorder with varied manifestations in bone, soft tissue, the nervous system and skin. This is characterized by cafe-au-lait spots, neurofibromas, Lisch nodules, optic glioma, bony displasia, and intertriginous freckling. One of the more serious aspect of the disease relates to the arterial involvement. Vascular changes in neurofibromatosis may occur in any arterial tree from the proximal aorta to the small arteries but these changes are most common in the renal arteries, aorta, celiac arteries and mesenteric arteries. Of the many complications observed in neurofibromatosis type I, cerebrovascular lesions may be the least appreciated. About 40 cases of neurofibromatosis type I associated with occlusive cerebrovascular disorders have been reported in the literature, but MRI and angiographic findings typical of moyamoya disease are rarely described. We experienced a case of moyamoya disease associated with neurofibromatosis type I in a 3-year-old girl who of complained gait disturbance and paraparesis and showed findings typical of moyamoya disease on MRI and carotid angiogram.

A case of adenocarcinoma, signet ring cell type, in 2nd portion of duodenum associated with neurofibromatosis type I / 대한내과학회지

The neurofibromatoses are a rare group of hereditary diseases of autosomal dominant fashion with the overall incidence of one in 3,000~4,000 and with two distinct forms, type I (Von Recklinghausen's neurofibromatosis) characterized by skin lesions including multiple cutaneous neurofibromas, axillary and groin freckling, and cafe-au-lait spots and type II by the presence of bilateral vestibular schwannomas. The neurofibromatosis type I is associated with the mutation of NF-I gene on chromosome 17q 11.2, which has a tumor suppressive role and with resultant development of the wide variety of tumors with the malignant incidence of about 2~16 %. Although the cases of malignant tumors in the neurofibromatosis type I have been reported in various tumors with the neural origin, lymphoma, pheochromocytoma and some cases of gastrointestinal tumors, the gastrointestinal tumors were found in only hepatobiliary system and large and small bowels and the cases of the malignant tumors of upper GI origin in duodenum and stomach have not been reported yet in Korea. We report a case of a 64-year-old man admitted with epigastric pain and diagnosed to adenocarcinoma, signet ring cell type, in 2nd portion of duodenum associated with neurofibromatosis type I.

Solitary Malignant Gastrointestinal Stromal Tumor Associated with a Neurofibromatosis Type I

From the Department of Dermatology, College of Medicine, The Catholic University of Korea, Kangnam St. Mary's Hospital, 505, Banpo-Dong, Seocho-Gu, 137-040, Seoul, Korea, Gastrointestinal stromal tumors are usually late manifestations of neurofibromatosis (von Recklinghausen's disease) and most become clinically apparent in middle-aged patients as multiple benign tumors. To our review of the literature, solitary malignant stromal tumor of gastrointestinal tract is exceptionally rare in von Recklinghausen's disease. We herein present a case of solitary jejunal stromal tumor in a 50-year-old woman with NF1, which histopathologically showed a malignant change and combined smooth muscle-neural type.

Malignant Peripheral Nerve Sheath Tumor of the Cauda Equina in Type I Neurofibromatosis: Case Report

We report a case of malignant peripheral nerve sheath tumor in the cauda equina, which was associated with neurofibromatosis type I. The tissue specimen acquired from the mass of cauda equina was transformed from benign to malignant form within 3 months. We report this case with review of the literatures.

Sphenoid Dysplasia in the Absence of Neurofibromatosis Type I: Case Report

The authors report a case of a 24-year-old man with unilateral sphenoid dysplasia in the absence of NF-I. Preoperatively, the patient was presented with pulsating exophthalmos and headache. The patient underwent cranioorbital sphenoid wing reconstruction with split calvarial bone graft. Postoperatively, he showed relieved headache and significant reduction of exophthalmos by exophthalmometry. There were no evidence of osteomyelitis and neurologic complication.

MRI study of neurofibromatosis type I / 中华放射学杂志

Objective To review the MR image findings in patients with neurofibromatosis type 1 (NF1) and to analyze the MR sequences and their diagnostic value so as to establish an adequate MR imaging protocol to supply the valuable imaging data for the diagnosis of NF1 Method Thirty patients fulfilling the NIH diagnostic criteria for NF1 were examined with the following MR imaging protocol, which mainly included: Axial SE T 2WI; Sagittal SE T 1WI without contrast; Axial or Sagittal SE T 1WI with contrast; Axial or Coronal FLAIR At the same time the characteristics of the disease including sites, numbers, shapes, and changes of intensity and enhancement of the lesions were recorded and analyzed Results There were three forms of lesions being demonstrated on MRI: (1) Multiple intracranial hamartomas: Hyperintense lesions on T 2WI and FLAIR images in 25 out of 30 patients (83%), which mainly located in the globus pallidus, cerebellums, and brainstems There was no definite enhancement with Gadolinium 20 out of 25 patients (80%) showed diffuse higher intensity in the region of hippocampus or parahippocampus gyrus, thalamus, and around the aqueduct (2) Optic pathway or hypothalamus glioma: Enlargement or/and elongation of the optic nerves and optic chiasms on STIR images; Masses in the region of the optic chiasm or hypothalamus with mixture high intensity on T 2WI and FlAIR images Significant and irregular enhancement was seen on SE T 1WI (3) Multiple neurofibromas in the spine: Multiple bulky tumours extending along the spinal nerves were shown on SE T 2WI and STIR images with higher signals Conclusion MR is suitable for routine imaging investigation in diagnosis and follow up of NF1 Our MR imaging protocol for NF1 could show multiple abnormalities of NF1 better

A Case of Gliosarcoma Associated with Neurofibromatosis Type 1

A rare case of gliosarcoma with neurofibromatosis typeI is presented. The patient was a 33-year-old woman who had headache and vomiting for one week. Multiple neurofibromas over her whole body with many cafe-au-lait spots were present since childhood. At admission, she had no focal neurological deficit and ophthalmologic examination revealed bilateral Lisch nodules. Brain CT and MRI revealed a heterogeneously enhancing mass in the left fronto-parietal region with marked peritumoral edema and mass effect. The tumor was removed gross totally and a gliosarcoma was diagnosed histopathologically. Post operative course was uneventful with resolution of symptom, followed by radiotherapy with 60 Gy. A brief overview is given of this rare case together with the pertinent literature.

A Case of Pseudoaneurysm in Neurofibromatosis Type I / 대한이비인후과학회지

Neurofibromatosis type I(NF-1) is a genetic disorder that usually identified clinically by cafeau-lait spots, and cutaneous neurofibromas. Vascular abnormalities are also associated with von Rechlinghausen neurofibromatosis. Whereas renal and gastrointestinal system lesions are common, involvement of the craniocerebral vessels is relatively rare. More than 85% of the reported lesions are of a purely occlusive or stenotic nature, including progressive arterial occlusive disease. Aneurysms are the second most frequently reported vascular abnormality in NF-1. Recent reported cases of extracranial vertebral artery aneurysms and carotid artery aneurysms have been treated by endovascular detachable balloon technique, and yielded good result. The authors experienced a case of pseudoaneurysm in NF-1 patient who complained of sudden-onset neck swelling. That was identified by doppler sonography, and then angiographic embolization was done.

Pseudo-Mascularization of the Phallus: The Clitoral Involvement of von Recklinghausen`s Neurofibromatosis / 대한비뇨기과학회지

Von Recklinghausen`s neurofibromatosis is an unusual disorder with a wide variety Of manifestations. The initial findings may at times involve the female genitalia. When the phallus is affected, the urologist has an opportunity for the establishment of an accurate diagnosis as well as for cosmetic correction. We report a case of neurofibromatosis with an involvement of clitoris in 1l-year-old girl.

A case of atypical neurofibromatosis type 1

No abstract available.