RESUMEN
PURPOSE: To report the endovascular treatment of a spontaneous scalp arteriovenous fistula (AVF) in a child with Hartnup disease. CASE REPORT: A 6-year-old girl with Hartnup disease presented with recurrent attacks of intense, migraine-like, right-sided headache; a tender, pulsatile small mass was observed in the scalp. Selective digital subtraction angiography revealed a high-flow scalp AVF fed by the frontal branch of the right superficial temporal artery draining via the scalp veins. Endovascular treatment was performed by direct puncture of the distal feeding artery and injection of 2 mL of a 50% mixture of N-butyl-cyanoacrylate and Lipiodol. Serial arteriograms performed 6 months and 2 years later documented complete resolution of the lesion. The patient has had no recurrence of clinical symptoms or local signs for recanalization. CONCLUSIONS: Scalp AVFs may progress in size, causing significantly disabling symptoms, particularly in children. We recommend endovascular treatment at the earliest possible stage.
Asunto(s)
Fístula Arteriovenosa/terapia , Embolización Terapéutica , Enfermedad de Hartnup/complicaciones , Cuero Cabelludo/irrigación sanguínea , Arterias Temporales , Angiografía , Fístula Arteriovenosa/diagnóstico por imagen , Niño , Enbucrilato/uso terapéutico , Femenino , Enfermedad de Hartnup/diagnóstico por imagen , Humanos , Flebografía , Arterias Temporales/diagnóstico por imagen , Adhesivos Tisulares/uso terapéutico , Resultado del TratamientoRESUMEN
A severely affected case of Hartnup disease is reported, where the patient responded rapidly to nicotinamide. This supports the view that all the clinical features, except reduced stature from general nutritional defect, are secondary to tryptophan and nicotinamide deficiency rather than to an unknown toxic factor. Severe malabsorption of both tryptophan and phenylalanine was demonstrated. The dipeptide carnosine was absorbed normally whereas when the two constituent amino acids, beta-alanine and L-histidine, were ingested, absorption of the former was normal but that of the latter was grossly defective. The suggestion is advanced that in cases of Hartnup disease protein nutrition is maintained by intestinal uptake of amino acids as oligopeptides rather than as free amino acids. By contrast, both modes of absorption are probably important in normal subjects. Radiology of the small intestine is abnormal in Hartnup disease when a large amount of protein is admixed with the barium meal.