Case report
Type 1 Neurofibromatosis: Clinical, Pathological and Radiological Correlation
Kristina Potočki
Jurica Papa
Zlatko Sabol
Abstract
Type 1 neurofibromatosis is a phacomatosis inherited as an autosomal dominant disorder. It is characterized by the occurrence of hamartomas and tumors on the body, particularly on the nervous system and skin. The clinical criteria for its diagnosis include the following findings: six or more cafe-au-lait spots of 35 mm in diameter on the skin, two or more neurofibromas, spots in the axillary or inguinal region, optic nerve gliomas, two or more hamartomas of the iris, and characteristic changes of bones and brain. The pathologist's finding is predominated by the occurrence of neurofibromas along peripheral and cranial nerves, optical gliomas, policystic astrocytomas of the brain, and hamartomas of the brain and iris. During a 15-year period, 166 children with type 1 neurofibromatosis were examined and radiologically evaluated. Classical radiological bone x-rays were made, along with brain and spine CT and MR. Dysplasia of the greater wing of the sphenoid bone was detected on bone tissue accompanied by deformation of the orbit and middle cranial fossa, wedge-formed vertebrae, expanded intervertebral foramina, and cystic masses in other bones. In the brain parenchyma, hamartomas, policystic astrocytomas and optic nerve gliomas were detected along with neurinomas of the cranial and spinal nerves. Based on the clinical, laboratory and radiologic follow-up of the patients with type 1 neurofibromatosis, the need is stressed for a multiple approach to the diagnosis and treatment of neurofibromatosis.
Keywords
Hrčak ID:
14774
URI
Publication date:
10.6.2002.
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