OBJECTIVE: Neurofibromatosis type I (NF1), Tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS) are the most common neurocutaneous syndromes. The purpose of this study is to evaluate clinical neuroradiological manifestations patients diagnosed with NF1, TSC, SWS.MATERIAL AND METHODS: In our clinic, records 15 SWS were retrospectively reviewed between December 2017 May 2019. Clinical...

A 9-year-old girl presented with a firm occipital swelling. She had multiple café-au-lait lesions without other clinical features or family history of neurofibromatosis type 1 (NF1). MRI showed subcutaneous soft tissue mass in the left occipitotemporal region with “target sign” suggestive of plexiform neurofibroma (figure 1). There were supra and infratentorial T2-weighted hyperintense lesions,...

LEOPARD multiple congenital anomaly syndrome inherited in an autosomal dominant manner. LEOPARD is an acronym for Lentigines, Eletrocardiographic conduction defects, Ocular hypertelorism, Pulmonary valve stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness. Clinical diagnosis is primarily based on multiple lentigines, typical facial features, and the presence of hypertr...

A 25-year-old man presented for evaluation of aphasia and generalized seizures. Examination revealed café au lait macules, axillary freckling, and bilateral Lisch nodules. Surgical history included excision of an upper extremity plexiform neurofibroma and optic glioma resection followed by whole-brain radiation 20 years previously. His mother and maternal grandmother had also been diagnosed wit...

McCune-Albright syndrome is a rare fibro-osseous syndrome characterised by a classic triad of fibrous dysplasia (FD), café-au-lait macules and various underlying endocrinopathies. This case report describes how a patient was rediagnosed by a general dental practitioner following attendance for a routine dental examination. The patient had been previously diagnosed with the condition 28 years ea...

The cause of hyperpigmentation usually is traced to the activity and presence of melanocytes. Café au lait macules may be solitary benign findings or may indicate the presence of neurofibromatosis with its associated complications. Diffuse hyperpigmentation should prompt a search for offending medications or systemic diseases such as hemochromatosis, hyperthyroidism, and Addison's disease. In t...

Case report: In an eight-year-old boy who was diagnosed with FA seven months back, blast cells in peripheral blood were detected following a respiratory illness. Physical examination revealed polydactyly, hyperpigmentation of the tongue, café au lait macules and hepatosplenomegaly. Bone marrow morphology and flow cytometry were performed, which suggested the diagnosis of AML M4. After providing...

Neurofibromatosis 1, an autosomal dominant neurocutaneous disorder characterized by café-au-lait macules, Lisch nodules, neurofibromas, and learning disabilities, affects approximately 1 in 3000 people. Unlike other neurocutaneous disorders such as tuberous sclerosis, epilepsy is not a common clinical feature, occurring in 3.8–7% of NF1 patients. Rarely, case reports have described patients wit...