Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review.

Hawkinsinuria is an autosomal dominant disorder of tyrosine metabolism. Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) result in an altered HPD enzyme, causing hawkinsin and tyrosine accumulation. Persistent metabolic acidosis and failure to thrive are common features in patients with hawkinsinuria. We present the first known Latin American patient diagnosed with hawkinsinuria, and the tenth reported patient in the literature. We aim to establish clinical practice guidelines for patients with hawkinsinuria. The patient's plasma tyrosine level was 21.5 mg/dL, which is several times higher than the reference value. Mutation analysis indicated heterozygosity for V212M and A33T variants in HPD. In the case of altered tyrosine levels found during newborn screening, we propose exclusive breastmilk feeding supplemented with ascorbic acid. Amino acid quantification is useful for monitoring treatment response. If tyrosinemia persists, protein intake must be decreased via a low-tyrosine diet. Molecular studies can be used to confirm a patient's disease etiology. Further reports are required to elucidate new pathogenic and phenotypic variations to enable the development of an appropriate therapeutic approach.

Utilidad de la estreptoquinasa en un neonato de 990 g con trombosis arterial aguda de femoral izquierda secundaria a colocación de catéter umbilical / Streptokinase use in a neonate of 990 g, with acute thrombosis in left lower extremity secondary to umbilical artery catheter

El uso del catéter arterial umbilical continúa siendo de amplia utilización en los recién nacidos críticamente enfermos, con riesgo de complicaciones como sangrado, arritmias cardiacas, onfalitis, trombosis, sepsis, enterocolitis, hemorragia intraventricular, etc. Presentamos el caso de un neonato prematuro de 990g con enfermedad de membrana hialina grave que presentó, trombosis arterial aguda que involucró el miembro inferior izquierdo, Se manejó con estreptoquinasa (trombolítico) y finalmente la lesión se limitó con pérdida de la articulación tarso-metatarsiana y del calcáneo. El diagnóstico de trombosis en la actualidad se realiza por ultrasonido-doppler, el manejo puede ser heparina, trombolíticos y/o quirúrgico. Existe escasa experiencia con el uso de trombolíticos en la etapa neonatal