RESUMEN
No published case of Wolman's disease has described the prenatal sonographic findings. We present a case in which a third-trimester sonographic examination demonstrated fetal hepatomegaly and bilateral adrenal echogenicity suggestive of diffuse calcification. Wolman's disease, also known as lysosomal acid lipase (LIPA) deficiency, is a rare autosomal-recessive disorder characterized by complete absence of the LIPA enzyme. The diagnosis of Wolman's disease was made postnatally by biochemical testing, which indicated absence of LIPA enzyme activity and gene sequencing, which confirmed homozygosity for the G66V mutation within the LIPA gene. © 2017 Wiley Periodicals, Inc. J Clin Ultrasound 46:66-68, 2018.
Asunto(s)
Enfermedades Fetales/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Enfermedad de Wolman/diagnóstico por imagen , Femenino , Humanos , Embarazo , Tercer Trimestre del EmbarazoAsunto(s)
Codón sin Sentido , Esterol Esterasa/genética , Enfermedad de Wolman/genética , Enfermedad de Wolman/patología , Glándulas Suprarrenales/patología , Exones , Femenino , Humanos , Lactante , Hígado/patología , Bazo/patología , Tomografía Computarizada por Rayos X , Enfermedad de Wolman/diagnóstico por imagenAsunto(s)
Encéfalo/patología , Enfermedad de Wolman/diagnóstico , Encéfalo/diagnóstico por imagen , Femenino , Radioisótopos de Flúor , Fluorodesoxiglucosa F18 , Humanos , Lactante , Marcaje Isotópico , Imagen por Resonancia Magnética , Radiografía , Tomografía Computarizada de Emisión , Enfermedad de Wolman/diagnóstico por imagen , Enfermedad de Wolman/patologíaRESUMEN
We report a case of Wolman's disease that is apparently the first to be reported in a Jordanian infant. The clue to diagnosis was the radiological evidence of bilateral adrenal calcifications and foam cells in bone marrow. The disease was confirmed by skin fibroblast culture which showed decreased 'acid esterase' activity.
Asunto(s)
Enfermedad de Wolman/diagnóstico , Acetilesterasa/metabolismo , Enfermedades de las Glándulas Suprarrenales/diagnóstico por imagen , Examen de la Médula Ósea , Calcinosis/diagnóstico por imagen , Humanos , Lactante , Jordania , Masculino , Radiografía , Enfermedad de Wolman/diagnóstico por imagen , Enfermedad de Wolman/enzimologíaRESUMEN
Plasma concentrations of total and low-density lipoprotein cholesterol are increased twofold to threefold in patients with heterozygous familial hypercholesterolemia. This sustained increase leads to accelerated rates of cholesterol deposition in the coronary arteries and to the development of tendon xanthomas. To assess whether hypolipidemic therapy with lovastatin, alone and in combination therapy with colestipol hydrochloride or nicotinic acid, results in regression of lipid deposits in the tendons of these patients, we have measured Achilles tendon diameters by xeroradiography before and after treatment. In 20 patients treated for a mean of 43 months (during which time plasma cholesterol concentrations decreased from 430 to 247 mg/dL), the diameter of both the left and right Achilles tendons measured at three different locations decreased by 0.55 to 1.5 mm. Larger reductions were seen in the tendons of seven of these patients who were treated for a mean of 64 months and whose mean concentrations of cholesterol fell from 488 to 279 mg/dL. We conclude that effective long-term hypolipidemic therapy leads to diminution in the size of Achilles tendon xanthomas in patients with heterozygous familial hypercholesterolemia and that such therapy is associated with mobilization of tissue stores of cholesterol in these patients.
