ABSTRACT
INTRODUCTION: Behçet's disease is difficult to diagnose in infancy due to the absence of early clinicopathological pathognomonic symptoms. There have been reports of patients in whom the onset of the disease occurred during the first months of their lives. CASE REPORT: We describe here the case of a 12-year-old female from Pakistan whose first symptoms appeared at the age of 6 months in the form of fever and skin lesions. The first neurological symptoms appeared at the age of 5 years in the form of ophthalmoplegia, followed by ataxia and dysmetry. Magnetic resonance imaging of the head was a valuable aid in the study of the vascular alterations. She also presented abdominal pains, arthromyalgia, ulcers in the mouth and severely delayed weight gain. Yet, we were finally guided towards a diagnosis by the appearance of ulcers on the genitals, which do not usually occur until puberty, as well as the findings from the skin biopsy study. The serological study revealed the presence of antigen B08. Establishing therapy with methylprednisolone and later with azathioprine brought about the practically complete remission of the clinical picture. CONCLUSIONS: Behçet's disease, which has been infrequent in our country up till now, is a condition to be taken into account, especially in young female patients from countries with a high incidence rate of oral and genital ulcers, accompanied by neurological symptoms. Knowledge of this syndrome and performing appropriate complementary studies are essential to be able to reach an early diagnosis and for establishing suitable treatment.
Subject(s)
Behcet Syndrome , Adolescent , Adult , Age of Onset , Behcet Syndrome/diagnosis , Behcet Syndrome/epidemiology , Behcet Syndrome/pathology , Behcet Syndrome/physiopathology , Child , Female , Humans , Infant , Magnetic Resonance Imaging , MaleABSTRACT
Introducción. La enfermedad de Behçet es de difícil diagnóstico en la infancia debido a la ausencia de manifestaciones clinicopatológicas patognomónicas precoces. Se han descrito pacientes de inicio desde los primeros meses de vida. Caso clínico. Niña de 12años de origen paquistaní, cuyas primeras manifestaciones aparecieron a los 6 meses en forma de fiebre y lesiones cutáneas. A los 5años surgió la primera manifestación neurológica en forma de oftalmoplejía, posteriormente ataxia y dismetría. La resonancia magnética craneal resultó útil en el estudio de las alteraciones vasculares. También presentó dolores abdominales, artromialgias, úlceras orales y grave retraso ponderal. Pero fueron las úlceras genitales, que no suelen presentarse hasta la pubertad, así como el resultado de la biopsia cutánea, lo que orientó hacia el diagnóstico. El estudio serológico mostró la presencia del antígeno B08. La instauración de tratamiento con metilprednisolona y posteriormente azatioprina supusola remisión prácticamente completa del cuadro clínico. Conclusiones. La enfermedad de Behçet, infrecuente hasta ahora en nuestro país, es una entidad a tener en cuenta, especialmente en niñas procedentes de países con alta incidencia de úlceras orales y genitales, acompañadas de manifestaciones neurológicas. El conocimiento de dicho síndrome y la realización de estudios complementarios adecuados es imprescindible para un diagnóstico precoz y la instauración de un tratamiento adecuado (AU)
Introduction. Behçet's disease is difficult to diagnose in infancy due to the absence of early clinic pathological pathognomonic symptoms. There have been reports of patients in whom the onset of the disease occurred during the first months of their lives. Case report. We describe here the case of a 12-year-old female from Pakistan whose first symptoms appeared at the age of 6 months in the form of fever and skin lesions. The first neurological symptoms appeared at the age of 5 years in the form of ophthalmoplegia, followed by ataxia and dysmetry. Magnetic resonance imaging of the head was a valuable aid in the study of the vascular alterations. She also presented abdominal pains, arthromyalgia, ulcers in the mouth and severely delayed weight gain. Yet, we were finally guided towards a diagnosis by the appearance of ulcers on the genitals, which do not usually occur until puberty, as well as the findings from the skin biopsy study. The serological study revealed the presence of antigen B08.Establishing therapy with methylprednisolone and later with azathioprine brought about the practically complete remission of the clinical picture. Conclusions. Behçet's disease, which has been infrequent in our country up till now, is a condition to betaken into account, especially in young female patients from countries with a high incidence rate of oral and genital ulcers, accompanied by neurological symptoms. Knowledge of this syndrome and performing appropriate complementary studies are essential to be able to reach an early diagnosis and for establishing suitable treatment (AU)
