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PubMed1977

[Trigemino-facial reflex as a diagnostic aid in Recklinghausen's neurofibromatosis].

The blink reflex evoked by unilateral electrical stimulation was studied in 7 patients with Neurofibromatosis and 50 normal persons. Studing data of the early R1 reflex, there was no difference between normal persons and patients with von Recklinhausen disease. A slightly, but significantly increased reflex latency of the direct R2 was recognized in the majority of the patients with Neurofibromatosis.

Adolescent↗
PubMedDate not supplied

Neurofibromatosis of lid and orbit in early childhood.

Fifty cases of neurofibromatosis of lid and orbit that were followed up from early childhood for about 20 years showed: 1. Age at which cases firstly seen by ophthalmologist in 10 percent at first, in 20 percent between two and four; in 30 percent betweeen five and 12; in 30 percent between 13 and 17; and in 10 percent after 17 years. 2. The most common lesion in a unilateral orbital and upper lid swelling with ptosis in 30 percent; with added swelling of temporal region and eyebrow in 30 percent; with added swelling of cheek in 30 percent. Only unilateral swelling at root of nose in four percent; eyebrow in two percent; or temporal atrophy in two percent. 3. Associated cafe au lait patches are found in 70 percent, and multiple neurofibromata of skin in 50 percent. 4. Malignant transformation to neurofibrosarcoma occurs in six percent. 5. X-ray changes of the bony orbit: absent in 60 percent; congenital since birth in 20 percent-the lesser and greater wings of the spehenoid bone are most commonly absent; and due to pressure of growing neurofibromatosis of orbit in 20 percent.

Adolescent↗
PubMed1977

[Central nervous manifestations of neurofibromatosis in children (author's transl)].

Serious central nervous manifestation of neurofibromatosis have been reported in 11 children aged 1,5-12 years. According to the present literature we conclude: 1. Central nervous lesions of neurofibromatosis are common even in childhood. 2. About two thirds of these patients suffer from brain tumors. 3. The tumors involve the suprasellar region in many cases. 4. By this localisation endocrine manifestations, especially precocious puberty, are frequent.

Astrocytoma↗
PubMed1982

[Colonic localization of pseudopolypoid type disclosing Recklinghausen's neurofibromatosis].

A case of colonic Recklinghausen neurofibromatosis found in a forty-two-year-old woman is presented. Only the colon was affected. The first symptom was rectal bleeding. Widespread polypoid lesions involving the rectum, sigmoid, left colon and part of the transverse colon were demonstrated upon barium enema and rectosigmoidoscopic examinations. As demonstrated by a review of the medical literature, colonic involvement in Recklinghausen disease is very infrequent and forms restricted to the colon are exceptional. The pathologic findings and the clinical, radiological and endoscopic features in colonic neurofibromatosis are described. It seems that total colectomy should be advocated. Our patient underwent total colectomy ten years ago and has experienced neither recurrence nor other manifestations of Recklinghausen disease.

Adult↗
PubMedDate not supplied

Enhanced viral transformation of skin fibroblasts from neurofibromatosis patients.

Enhanced viral transformation of cultured skin fibroblasts (SF) from patients with neurofibromatosis (NF) was observed, compared with cultures established from normal, age-matched controls. Cultures of skin fibroblasts from persons with and without clinical NF in families in which the disorder had been diagnosed were examined for transformability by Kirsten murine sarcoma virus. The viral transformation results were compared with those obtained with SF cultures initiated from controls in families without history of any disorder with an hereditary component, or cancer. The data show that 63 percent of cultures from patients with clinical NF were transformed, compared with 7 percent of control cultures (P = less than 0.0054). Cultures of skin fibroblasts from persons without the classical features of NF, but in families in which the disorder had been recognized, also exhibited a relatively high transformation rate, since 75 percent were transformed. Neurofibromatosis can be included among other hereditary disorders in which enhanced transformability of cultures of SF by an oncogenic virus may be demonstrated.

Adult↗
PubMed1984

Megacolon and neurofibromatosis: a neuronal intestinal dysplasia. Case report and review of the literature.

This study presents the case of a patient with neurofibromatosis and megacolon. A diffuse, but patchy abnormality of neural tissue was present throughout the colon, especially in the myenteric plexus, but also in the submucosal plexus, smooth muscles, and lamina propria. This consisted of (a) a marked decrease in the number of argyrophilic neurons within the myenteric plexus, enlargement and deformity of those neurons present, and a marked increase of nerve fibers and nerve tract size in the myenteric plexus; (b) a proliferation of neurons and nerve fibers within the smooth muscle and submucosa; and (c) a proliferation of nerve fibers within focal areas of the lamina propria. The relationship of this case to previously reported cases of neuronal intestinal dysplasia and plexiform neurofibromatosis is discussed. Surgical treatment may be necessary and the surgical options are reviewed.

Colonic Neoplasms↗
PubMedDate not supplied

[Von Recklinghausen's neurofibromatosis and pregnancy and the puerperium].

On the basis of a personal case and a review of the literature, the authors describe the particular features of the association of neurofibromatosis and pregnancy. With the exception of a few severe forms of the disease, pregnancy is possible in the majority of patients with neurofibromatosis, although there is a risk of hypertension of pregnancy. The rate of abortion is a little higher than in the general population.

Abortion, Spontaneous↗
PubMed1981

[Hypogonadism, basillary impression, subluxation of the lenses, and other clinical manifestations in a case of neurofibromatosis (author's transl)].

A case of neurofibromatosis with varied clinical symptoms due to parental consanguinity is reported. The patient presented the following manifestations: mental retardation, curved tibias, kyphoscoliosis, basillary impression with pyramidal syndrome and parkinsonism, subluxation of the lenses, bilateral blindness, and hypogonadism. Subluxation of the lenses and hypogonadism deserve special mention because of the rarity of their presentation in this disease. The hypogonadism was of the hypogonadotrophic type without evidence of pituitary or gonadal tumor. The possible causes of endocrine dysfunction in neurofibromatosis are discussed. The more likely hypothesis explains endocrine dysfunction on the basis of an elongation of the pituitary stem; if such abnormality was caused by gliosis of the optic chiasma, an explanation would be apparent for the bilateral blindness presented by our patient since infancy. The alterations of the nervous, endocrine, and osteoarticular systems, and the ocular manifestations that can be present in von Recklinghausen's disease are also reviewed.

Blindness↗
PubMed1981

Neurofibromatosis. A clinical and genetic study of 96 cases in Gothenburg, Sweden.

Ninety-six persons, living in Gothenburg, Sweden, on the first of January 1978 and known by the health services as cases of neurofibromatosis, were investigated concerning clinical and genetic aspects of the disease. Close relatives were also interviewed and examined. The diagnostic criteria were operationally defined according to number of café-au-lait spots and/or neurofibromas. The prevalence of neurofibromatosis was estimated to be 0.02%. The following findings were made in the patients: axillary freckling (48%), neurological symptoms (30%), epilepsy (3-9%), sarcoma (4%), pheochromocytoma (3%), osseous dysplasias (12%), subnormal intelligence (45%) and psychiatric symptoms (33%). The genetic analysis revealed a dominantly inherited disease with full penetrance and a very high mutation frequency, at least 4.3 X 10(-5). Questions commonly encountered during counselling are discussed.

Adolescent↗
PubMed1982

The spectrum of pheochromocytoma in hypertensive patients with neurofibromatosis.

We have found an appreciable number of pheochromocytomas in patients with neurofibromatosis and concurrent hypertension (ten of 18 cases). At diagnosis, the patient age range was 15 to 62 years, the clinical appearance of the neurofibromatosis did not predict who would and who would not have pheochromocytomas, but the age at diagnosis was helpful in that our younger patients tended to have causes of hypertension other than pheochromocytoma. However, several causes of hypertension may coexist. The biochemical findings were highly diagnostic. The pheochromocytomas secreted epinephrine as well as norepinephrine and resided in or next to the adrenal gland. Where pheochromocytoma is the cause of hypertension, its resection generally results in a better control of hypertension than that obtained in patients whose BPs were elevated from other unknown causes.

3-Iodobenzylguanidine↗
PubMed1982

Gastrointestinal manifestations of neurofibromatosis in children: a report of two cases.

Two patients with von Recklinghausen's disease (neurofibromatosis) involving the gastrointestinal tract are described. The manifestations of the disease were very different in each patient. In the first, the similarity of the diffuse abdominal form of plexiform neurofibromatosis to childhood sarcoma is emphasized. In the second, megacolon with a transition zone in the lower sigmoid colon producing a pseudo-Hirschsprung's appearance was present.

Adolescent↗
PubMed1982

Probable clonal origin of neurofibrosarcoma in a patient with hereditary neurofibromatosis.

A neurofibroma, a fibroma, a primary neurofibrosarcoma, and four neurofibrosarcoma metastases from a woman with hereditary neurofibromatosis who was heterozygous (GdB/GdA-) for the X-linked enzyme glucose-6-phosphate dehydrogenase were studied to determine the number of cells from which the tumors developed. Both enzyme types were observed in the benign tumors in proportions similar to those present in seven different normal tissues studied. These findings indicated that the benign tumors arose from many cells. In marked contrast, only type A activity was detected in the primary neurofibrosarcoma and in all of the metastases. Two or more steps probably were involved in the development of neurofibrosarcoma in this patient: the inherited genetic mutation producing neurofibromatosis and a rare event or combination of events that permitted a single cell to undergo malignant proliferation.

Adult↗
PubMed1995

Spontaneous involution of optic pathway lesions in neurofibromatosis type 1: serial contrast MR evaluation.

PURPOSE: To evaluate with contrast MR the evolution in size, signal, and contrast enhancement of optic pathway lesions in four patients with neurofibromatosis type 1. METHODS: The four reported patients are children with ages ranging from 21 months to 13 years affected by neurofibromatosis type 1 and optic pathway lesions. No treatment of the optic pathway lesions was carried out in these patients. They have been followed by serial contrast MR. RESULTS: In all patients a change in size, signal, and enhancement of optic pathways lesions was noted with time, and in the last follow-up study a marked reduction in size and enhancement of optic pathway lesions was observed in all cases. CONCLUSIONS: Modification and regression of optic pathway lesions with spontaneous disappearance of the enhancement is demonstrated. This finding could have a crucial influence on the therapeutic approach of the optic pathway lesions.

Adolescent↗
PubMed1995

A functional assay for heterozygous mutations in the GTPase activating protein related domain of the neurofibromatosis type 1 gene.

The GTPase-activating protein related domain of the human neurofibromatosis type 1 protein (NF1GRD) can down-regulate RAS in Saccharomyces cerevisiae. Using a technique termed the FASAY method, for Functional Analysis of Separated Alleles in Yeast, we designed a rapid method for detection of heterozygous NF1GRD loss-of-function mutations. In our method, PCR amplified NF1GRD cDNA is directly cloned into a centromeric vector by homologous recombination in a cdc25 temperature-sensitive mutant strain expressing human Ha-ras. This strain is dependent on the Ha-ras for growth, allowing a simple growth assay for NF1GRD loss-of-function mutations. In a test of our method, two alternatively spliced NF1GRD cDNAs (type I and II) inhibited yeast growth whereas four mutants with amino acid substitutions at highly conserved residues did not. This simple method thus permits the rapid screening for heterozygous germline or somatic NF1GRD mutations. In an initial application of this method, no mutations disrupting NF1GRD function were detected in lymphoblasts from 11 previously untested neurofibromatosis type 1 patients.

Base Sequence↗
PubMed1995

[Bladder tumor associated with von Recklinghausen's neurofibromatosis: a case report].

A 47-year-old female was admitted to our hospital complaining of macrohematuria. The patient had a history of von Recklinghausen's disease. Her skin showed multiple cafe-au-lait spots and neurofibromatosis. Thorough examinations were done. Urine cytology was positive. Intravenous pyelography and cystography demonstrated an irregular wall of the bladder. A computerized tomographic scan demonstrated a 7 cm nodular mass. Cystoscopy revealed a papillary tumor on the right lateral and anterior wall of the bladder. She was diagnosed as having a bladder tumor in von Recklinghausen's neurofibromatosis. Total cystectomy was performed. Histopathological diagnosis was transitional cell carcinoma with squamous cell carcinoma (Grade III, pT3N2N0). Fifty three cases of von Recklinghausen's disease in the literature were accompanied with malignancy.

Carcinoma, Squamous Cell↗
PubMed1994

A boy with neurofibromatosis 1 and Poland anomaly.

Von Recklinghausen neurofibromatosis (NF1) is one of the most common autosomal dominant disorders and has one of the highest mutation rates of a single human locus. The NF1 gene has recently been mapped to proximal 17q. Poland anomaly consists of the combination of unilateral aplasia of the sternal head of the pectoralis major muscle and an ipsilateral anomaly of the hand. Although other defects may occur in patients with Poland anomaly, neurofibromatosis 1 has not been reported. We have seen a boy with these two disorders.

Child, Preschool↗
PubMed1994

A case of Recklinghausen neurofibromatosis associated with membranous nephropathy.

A 68-year-old woman who had a history of Recklinghausen neurofibromatosis from 1964 showed nephrotic syndrome in 1989. Renal biopsy revealed membranous nephropathy. Various suspected causes of secondary membranous nephropathy were not found. Coexistence of Recklinghausen neurofibromatosis and membranous nephropathy has rarely been reported.

Aged↗