Neurofibromatosis tipo I (von Recklinghausen). A propósito de una casuística pediátrica
R. Palencia, R. Nieto, P. Bahillo, Mª. Blanco, Mª. Escorial
Bol. Pediatr. 2002; 42 (181): 201 - 207
Objetivos. Analizar la clínica y radiología de pacientes pediátricos
afectos de NF 1. Pacientes y métodos. Se estudian 33 pacientes
diagnosticados de NF1 según los criterios del NIH. Resultados. Existe
predominio - no significativo- de las mujeres. 28 pacientes (85%)
presentan antecedentes familiares. Las manchas color café con leche son
de presentación constante, asociadas a efélides en el 48,5% . El 36,4%
presentaban fibromas, que eran plexiformes en el 15,5%; la escoliosis
se observó en el 33,3% y el 3% mostraban pseudoartrosis y una
hemihipertrofia facial. El 9% tenía retraso psicomotor, el 30% cefalea,
el 9% crisis convulsivas, el 6% hiperactividad y el 3% temblor. La
presencia de tumores se evidenció en el 12% y de UBOs en el 45% de los
casos estudiados con RM. Conclusiones. La NF1 afecta a todos los
órganos y, por su carácter evolutivo, obliga a efectuar controles
periódicos. Las manchas de color café con leche son una manifestación
constante, por lo que su presencia en un lactante debe alertar al
pediatra para la búsqueda de otras manifestaciones de la enfermedad. La
radiología mostró tumores intracraneales en el 12% de los pacientes y
los UBOs se evidenciaron en el 45% de los que fueron estudiados con RM
encefálica.
Abstract
Objectives. To examine clinical and radiological manifestations in a group of pediatric patients suffering from NF1.
Patients and methods. Thirty-three patients with a diagnosis of NF1
according to NIH criteria underwent clinical and radiological
assessments. Results. In this group, female patients predominate over
male patients (difference non- significant). Twenty-eight patients
(85%) had a positive family history ? 71% in the maternal line, 39% in
the paternal line and 7% in both. Caféau-lait spots were present in
every case (100%), associated with ephelides in 48.5% of the patients.
Fibromas were present in 36.4% of the cases, being plexiform in 15.5%;
scoliosis was observed in 33.3%, and 3% of the cases showed
pseudoarthrosis and facial hemihypertrophy. Nine percent of patients
had a psychomotor retardation, 30% headache, 9% seizures, 6%
hyperactivity and 3% tremor. Brain neuroradiology allowed to detect the
presence of tumors in 12% of the cases and UBOs (high signal intensity
foci) in 45% of the cases studied with this technique; 2 patients had
an arachnoidal cyst and 1 showed hydrocephaly. Conclusions. NF1 can
affect all the organs and, due to its evolutive nature and the
possibility of development of new manifestationes, periodical
assessments are mandatory. Café-au-lait spots are a constant
manifestation with an early onset; that is why, their presence in an
infant should alert the pediatrician to search for other more relevant
signs. Neuro-radiology showed intracranial tumors in 12% of our
patients and UBOs were observed in 45% of those examined by brain RM.
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