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Seizure, spinal schwannoma, peripheral neuropathy and pulmonary stenosis - A rare combination in a patient of Neurofibromatosis 1.

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Neurofibromatosis 1 (NF1) is the most common neurocutaneous syndrome. It is estimated to occur in approximately 1 out of every 3300 infants. The manifestations of this condition are diverse and can arise from almost any system in the body. The neurofibroma is the hallmark lesion of NF1 that develops

[Ultrasound-guided Thoracic Epidural and Spinal Anesthesia for the Management of Patients Undergoing Systemic Neurofibroma Resection].

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We report successful anesthetic management of a patient undergoing systemic neurofibroma resection using thoracic epidural and spinal anesthesia. A 40- year-old man (weight 66 kg) with von Recklinghausen's disease and intermittent convulsions was scheduled for large-scale tumor resection on the back

Neurofibromatosis 1-associated panhypopituitarism presenting as hypoglycaemic seizures and stroke-like symptoms.

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A 37-year-old man with a known history of neurofibromatosis 1 (NF1) presented within 2 days of diarrhoeal illness followed by encephalopathy, facial twitching, hypoglycaemia, hypotension, tachycardia and low-grade fever. Examination showed multiple café-au-lait spots and neurofibromas over the

Olfactory ensheathing cell tumor with neurofibroma-like features: a case report and review of the literature.

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A 32-year-old man had seizure attack since April 2008 and radiographic examination revealed a heterogeneous enhancing mass at the left subfrontal region. He underwent craniotomy for tumor removal on October 1, 2008. The tumor, which was grayish white with glistening appearance and rubbery

Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing.

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Neurofibromatosis type 1 (NF1) is a multisystem disease with autosomal dominant inheritance and complete penetrance diagnosed by clinical findings. Cutaneous neurofibromas are present in almost all adult patients in the dermis, epidermis or along the peripheral nerves. Plexiform neurofibromas are

Giant melanocytic nevi with neurocutaneous melanosis masquerading as neurofibromas.

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Neurocutaneous melanosis is congenital melanocytic nevus with neurological manifestations. We report a 4-year-old female child presenting with hyperpigmented and nodular skin lesion associated with developmental delay and convulsions. The child had multiple brownish-black nevi on the face and chest

[Quality of life in children with neurofibromatosis type 1, based on their mothers' reports].

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OBJECTIVE The aim of this study was to investigate health-related quality of life (HRQoL) in children with neurofibromatosis type 1 (NF1) and to determine the factors affecting HRQoL in these children, with particular emphasis on NF1-specific findings and complications. METHODS The patient group

Association of juvenile xanthogranuloma with café-au-lait macules.

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A 2-year-old boy was referred to the dermatology services for the evaluation of yellowish-brown raised lesions over the face of 3 months' duration. In addition, he had multiple asymptomatic hyperpigmented spots over the trunk, which his parents had noticed at the time of birth. His physical and

[Neurofibromatosis in children. Our experience].

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BACKGROUND 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. METHODS The

NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype.

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OBJECTIVE Neurofibromatosis, type 1 (NF1) is an autosomal dominant disorder caused by mutations of the neurofibromin 1 (NF1) gene at 17q11.2. Approximately 5% of individuals with NF1 have a 1.4-Mb heterozygous 17q11.2 deletion encompassing NF1, formed through nonallelic homologous recombination

Tuberous sclerosis associated with neurofibromatosis: report of a case.

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Neurofibromatosis and tuberous sclerosis are phakomatous syndrome diseases. They are both inherited as autosomal dominant diseases. Neurofibromatosis type 1 and tuberous sclerosis very seldom occur together. We report a 16-year-old male who had characteristics of these two diseases. This patient had

A case of Miller-Dieker syndrome in a family with neurofibromatosis type I.

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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

Deletion of the entire NF1 gene causing distinct manifestations in a family.

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We identified a father and son with neurofibromatosis type 1 (NF1) due to a deletion of the entire NF1 gene detected by fluorescence in situ hybridization (FISH). As is the case for others reported to have such large deletions, father and son had severe NF1, including a large number of cutaneous

Dermatopathia pigmentosa reticularis.

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Dermatopathia pigmentosa reticularis is a rare disorder that presents as reticulate pigmentation distributed widely all over the cutaneous surface. Only nine patients with this disease have been described previously. Our patient had no fingernail and toenail prints, a striking finding also noted in

Segmental neurofibromatosis type 1 complicated with multiple intracranial arteriovenous fistulas: A case study.

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Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder that primarily affects the skin and the nervous system. This condition is called segmental NF1 (also called neurofibromatosis type V) when clinical features are limited to one area of the body. Segmental NF1 is generally thought to

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