VON RECKLINGHAUSEN DISEASE. CASE PRESENTATION

Alin Laurentiu Tatu, Florentina Nastase

Abstract



Neurofibromatosis (NF) 1 or von Recklinghausen disease is one of the most common autosomal dominant genetic diseases and is characterized by “café- au-lait” spots and multiple tumors starting from the central and peripheric nervous system.

Clinical case: We present the case of an eight-year-old patient from rural environment first diagnosed with von Recklinghausen disease, based on the presence of three out of the seven diagnostic criteria.

Discussions: The diagnosis is determined on two out of seven criteria: 1) six or more light brown spots larger than 5 mm diameter – pre-puberty or 15 mm diameter – post-puberty; 2) two or more neurofibromas or one plexiform neurofibroma; 3) axillary or inguinal freckling; 4) optic glioma; 5) two or more Lisch nodules; 6) bone injuries: tibia pseudarthrosis or dysplasia of sphenoid wing; and 7) a relative of first degree having NF 1 diagnosis.

Conclusion: The evolution may be different in patients, some having only “café-au-lait” spots and usually considering themselves as being healthy. Interdisciplinary medical examination is essential for a complete diagnosis and setting up a treatment.


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