Mexican consensus on lysosomal acid lipase deficiency diagnosis. / Consenso mexicano sobre el diagnóstico de la deficiencia de lipasa ácida lisosomal.

INTRODUCTION: Lysosomal acid lipase deficiency (LAL-D) causes progressive cholesteryl ester and triglyceride accumulation in the lysosomes of hepatocytes and monocyte-macrophage system cells, resulting in a systemic disease with various manifestations that may go unnoticed. It is indispensable to recognize the deficiency, which can present in patients at any age, so that specific treatment can be given. The aim of the present review was to offer a guide for physicians in understanding the fundamental diagnostic aspects of LAL-D, to successfully aid in its identification. METHODS: The review was designed by a group of Mexican experts and is presented as an orienting algorithm for the pediatrician, internist, gastroenterologist, endocrinologist, geneticist, pathologist, radiologist, and other specialists that could come across this disease in their patients. An up-to-date review of the literature in relation to the clinical manifestations of LAL-D and its diagnosis was performed. The statements were formulated based on said review and were then voted upon. The structured quantitative method employed for reaching consensus was the nominal group technique. RESULTS: A practical algorithm of the diagnostic process in LAL-D patients was proposed, based on clinical and laboratory data indicative of the disease and in accordance with the consensus established for each recommendation. CONCLUSION: The algorithm provides a sequence of clinical actions from different studies for optimizing the diagnostic process of patients suspected of having LAL-D.

[Congenital and neonatal varicella. A report on 9 cases]. / Varicela congénita y neonatal. Presentación de nueve casos.

Varicella infection in the first month of life is rare. Neonates may be infected through the placenta or in the perinatal period. In Mexico, the experience with neonatal varicella infection is limited; on the other hand this disease may be misdiagnosed in the neonate. The purpose of this work is to inform nine patients which presented varicella in the neonatal period; in six cases the disease was observed after the 10th but before the 30th day of life; in the remaining cases, the disease was present before the 10th day. Only one patient was premature. Five patients developed varicella in the hospital; in three cases, the mother presented the disease nine, eight, and one day prior delivery; one patient was exposed to varicella in his home. Four patients died but only in one case the death was attributed to varicella.

Histological differences between rootlets sectioned during selective posterior rhizotomy by two surgical techniques.

During selective posterior rhizotomy, for the treatment of spasticity in infantile cerebral palsy, the rootlets to be divided are chosen by the type of electromyographic response elicited by intraoperative electrical stimulation. Two different surgical techniques were used for exposing the lumbar roots. The first approach was to expose the conus medullaris through a T 12-L 1 laminectomy, while the other approach to the dorsal roots was distally in the cauda equina through a L 2-L 3 to S1 laminectomy. Although the clinical results obtained with either of them are not very different, there is anatomical evidence that suggests that the histological structure of the divided rootlets may be different in the two techniques. We designed our study to determine of a significant difference in the number of large myelinated fibers was found between rootlets divided close to the conus medullaris and those divided distally in the cauda equina. Two groups of five children with spasticity secondary to cerebral palsy where randomly designed to be operated upon by one of the techniques. The divided rootlets were processed with standard histological techniques and the large myelinated fibers were counted on enlarged (40 x) photomicrograph of the rootlet. A significantly (p less than 0.001) larger number of large myelinated axons was found in the rootlets dissected and divided close to the conus medullaris.