In neurofibromatosis type-1 (NF1), cerebrovascular disorders are rarely encountered although vasculopathy is a well-known complication. Several mutations seen in methylenetetrahydrofolate reductase (MTHFR) give rise to the formation of hyperhomocysteinemia and homocystinuria, a considerable risk factor for cardiovascular and cerebrovascular disorders, by leading to enzymatic inactivation. In th...

Neurofibromatosis type 1 is the most frequent phacomytosis. Patients with neurofibromatosis type 1 (NF1) have a high risk to develop benign or malignant tumors of neurogenic or non-neurogenic origin. The association of (NF1) to low-grade fibromyxoid sarcoma (LGFMS) is very rare. These tumors rarely develop at the skull and have a high incidence of local recurrence and distant metastasis. We rep...

A 54 year old woman with neurofibromatosis type 1 (NF-1) was found to have multiple coronary aneurysms. Intraoperative intravascular ultrasound (IVUS) revealed severe coronary disease proximal to the aneurysm that had not been apparent angiographically. An IVUS picture of one of the giant coronary aneurysms is also shown. The vascular manifestations of neurofibromatosis and the causes of corona...

Neurofibromatosis is a common disorder that affects approximately 1 in 3000 persons [1]. Segmental neurofibromatosis is a rare form of the disease in which the cutaneous and neural changes are confined to one region of the body. Because the natural history and genetics of the segmental type may be different from those of the more common forms, it is important to become familiar with this unusua...

Congenital anterolateral bowing of the tibia is a rare deformity that may lead to pseudarthrosis and risk of fracture. This is commonly associated with neurofibromatosis type 1. In this report, we describe a 15-month old male with congenital anterolateral bowing of the right tibia and associated hallux duplication. This is a distinct entity with a generally favourable prognosis that should not ...

Vascular involvement in neurofibromatosis type 1 occurs in approximately 9% of patients in autopsy series (1). Vascular symptoms are usually from renal artery stenosis or cerebral arterial occlusion. Treatment of symptomatic vascular neurofibromatosis has been by medical and surgical means as well as more recently by percutaneous transluminal angioplasty (PTA) (2, 3). We report a case of stenos...

In classical Von Recklinghausen neurofibromatosis (Type I), skeletal defects occur as a result of abnormalities of derivatives of the neuroectoderm and mesoderm. Temporomandibular joint (TMJ) disorders caused by neurofibroma in the joint capsule or disc have not been reported previously in the English language literature. A case of neurofibroma in the TMJ articular disc in a 29-year-old woman w...

Three chromosome 19 markers known to be linked to myotonic dystrophy have been studied in nine families with peripheral neurofibromatosis (Von Recklinghausen's disease). Clear evidence against linkage has been found for all three markers, excluding the peripheral neurofibromatosis gene from the myotonic dystrophy region of chromosome 19. Previous reports of co-inheritance of the two disorders i...

Porphyria cutanea tarda Gaucher's disease von Hippel-Lindau disease Huntington's chorea Polyposis coli Haemochromatosis 21-Hydroxylase deficiency Osteogenesis imperfecta (some forms) Cystic fibrosis Galactosaemia Multiple endocrine neoplasia Ila Sickle cell anaemia and a thalassaemia Acute intermittent porphyria Phenylketonuria (classic) Wilson's disease Retinoblastoma a,-Antitrypsin deficiency...

meningioangiomatosis is regarded as a rare benign hamartomatous condition mostly involving the cerebral cortex and overlying leptomeninges. a strong association of ma with neurofibromatosis type 2 has been documented in published articles. herein we report a case of an otherwise healthy 13-year-old boy with no family history or stigmata of neurofibromatosis who presented with intractable seizur...