NEUROFIBROMATOSI TYPE 1 ASSOCIATED TO COGNITION DEFICIT, HYDROCEPHALY, BONE DYSPLASIA AND ELEPHANTIASIS.

An  Fac Med. 2009; 70 (3): 205.10. PDF .
Neurofibromatosis type 1 associated to cognition deficit, hydrocephaly, bone dysplasia  and elephantiasis
Julio Ramírez 1,2, Gustavo Wong 3, Victor Mechán1,4, Cesar Durán 5, Gustavo Cerrillo 6,Gerardo Ronceros 7,8, Isabel Ballena 9, Miguel Llanos10

1 Docente de la Facultad de Medicina, Universidad Nacional Mayor de San Marcos. Lima, Perú.
2 Servicio de Medicina Interna, Hospital Nacional Dos de Mayo. Lima, Perú.3 Servicio de Neurología, Hospital Nacional Dos de Mayo. Lima, Perú.4 Servicio de Hematología, Hospital Nacional Dos de Mayo. Lima, Perú.
5 Servicio de Oftalmología, Hospital Nacional Dos de Mayo. Lima, Perú.6 Servicio de Anatomía Patológica, Hospital Nacional Dos de Mayo. Lima, Perú.
7 Departamento de Patología Clínica, Hospital Nacional Dos de Mayo. Lima, Perú.8 Instituto de Investigaciones Clinicas, Facultad de Medicina, Universidad Nacional Mayor de San Marcos. Lima, Perú.9 Servicio de Radiología, Hospital Nacional Dos de Mayo. Lima, Perú.10 Alumno del 5° Año de la Escuela Académico Profesional de Medicina, Facultad de Medicina, Universidad Nacional Mayor de San Marcos. Lima, Perú.

Abstract. We report the case of a 31 year-old male from Cajamarca, Peru, with cognitive problems since childhood, who at 12 year-old developed increased volume and deformation of his right lower limb and to a lesser extent of his left, associated to massive skin folding, growth of subcutaneous nodules, elephantine look due to nerve cords formation in thigh and leg, pain and functional walking limitation. Concomitantly generalized skin café au lait spots, subcutaneous nodules, and Lisch nodules in both irides. Magnetic resonance and contrast TAC revealed abundant uniform plexiform nodules in abdomino-pelvic cavity forming masses and cords that continued throughout his thigh as lumps and cords. In addition,the patient presented bone dysplasia (thinning of femur and tibia cortex, pseudoarthrosis, new left cotyle formation). Contrast magnetic resonance showed triventricular normotensive hydrocephalus.

Key words: Neurofibromatosis 1; hydrocephalus; cognition disorders; bone dysplasia; elephantiasis.