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.

Influence of nutritional status on the pharmacokinetics of acetylsalicylic acid and its metabolites in children with autoimmune disease.

BACKGROUND: It is unknown whether nutritional status associated with autoimmune disease alters the pharmacokinetics of acetylsalicylic acid (ASA) and its metabolites. OBJECTIVE: We studied the effects of the nutritional status of children with autoimmune disease on the disposition of ASA and its metabolites. DESIGN: A prospective, open-label study was performed with 21 children aged 3-15 y who required ASA therapy. Children received 25 mg ASA/kg orally. Blood samples were drawn before and 0.5, 1.0, 2.0, 4.0, 8.0, 12.0, and 24.0 h after ASA administration; urine samples were collected at different intervals. ASA and its metabolites were measured in plasma and urine. Nutritional status was assessed previously. RESULTS: The ASA maximum plasma concentration, area under the curve, and total clearance were significantly lower in underweight children than in normal-weight children. The elimination rate constants of gentisic acid (GA), salicyluric acid (SUA), and salicylic acid (SA) in plasma were slower for underweight children than for normal-weight children. The distribution volume of SUA increased significantly (r = 0.92) when the deficit percentage in weight-for-height increased. Underweight children excreted less GA and SA, but more SUA, than did normal-weight children. CONCLUSIONS: These observations suggest a decrease in the hydrolysis and oxidative reactions of the metabolic pathway of ASA and its metabolites in underweight children. The study illustrates the need for pharmacokinetic data to establish the individual doses of drugs, particularly in conditions that alter nutritional status.

[The abused child: some ethical considerations on its care]. / El maltrato del niño: algunas consideraciones éticas sobre su atención.

An analysis in being made on the prevalent condition of abused children on a world wide level and in Mexico. As far as the importance of the theme is concerned, and the information that has been given to the different professional groups that deal with this social, medical problem, some basic facts of the syndrome are stressed. The participation that medical and paramedical community, government and society have are mentioned in order to achieve an integral solution to each case. Some ethical concepts are put forth and their consequences, whether they are realized or not in the attention given to any kind of battered child cases.

[Antiphospholipid syndrome: a new diagnostic option in rheumatology in children. Analysis of 3 clinical cases]. / Síndrome antifosfolípido: nueva opción diagnóstica en la reumatología pediátrica. Análisis de tres casos clínicos.

There are some patients with a clinical picture that suggests to be a rheumatological problem. However, it does not have all the criteria to be accepted such as specific problems like systemic lupus erythematosus, juvenile rheumatoid arthritis, etc. Now we know that a relation between high levels of antiphospholipid antibodies exist in these special patients and the name of the disease is antiphospholipid syndrome. This problem can be primary or secondary. This disease has been studied mainly in adults with SLE an there is not a description of this syndrome in national pediatric literature. For this reason we present three clinical cases that permit us to review both forms of the syndrome. In this way we alert want to the pediatric community about this topic, and if the number of cases increases, it will improve the knowledge and prognosis of the patients at this age.

[Pneumopathy in children with juvenile rheumatoid arthritis]. / Neumopatía en niños con artritis reumatoide juvenil.

In the National Institute of Pediatric were studied 35 patients with juvenile rheumatoid arthritis, in a prospective form, in order to asses pulmonary manifestations. Arthritis had between 5 months to five years of clinical evolution. The radiologic patterns of the lung correlated well with respiratory tests, without correlation with pulmonary gammagram which was normal in all the cases. Symptoms were not characteristic of any type of pulmonary lesion.

[Neurologic involvement in juvenile rheumatoid arthritis]. / Compromiso neurológico en la artritis reumatoide juvenil.

The neurologic complication seen in children with juvenile rheumatoid arthritis (JRA) has hardly been studied for which therefore its prevalence is unknown. Some of the clinical manifestations surrounding this event have been studied and have been divided into the following two groups: cervical articular spinal disease and extra-articular manifestations, more commonly seen in adults, the atlas-axoidal subluxation and the neuropathies. A group of 213 children diagnosed as having JRA according to the criteria setforth by the American Association of Rheumatology and followed by the Department of Internal Medicine of the National Institute of Pediatrics, 10 patients were found to have neurologic symptomatology (4.6%). Their arthritis was studied as well as their association with activity data and seropositivity. We found 6 female and 4 male patients with neurologic manifestations; their ages ranged from 7 to 14 years. Six of them were diagnosed with sero-positive polyarticular JRA and the other four with polyarticular sero-negative. All patients showed some activity and the appearance of the neurologic complications ranged between two months and seven years. No correlation was found between the beginning of the arthritis and the neurologic symptomatology, their sex or the type of arthritis. Seven of the cases showed peripheral neuropathy. Two cases had atlas-atloid subluxation and another child showed having cervical column inflammation with a rheumatoid pannus.(ABSTRACT TRUNCATED AT 250 WORDS)

[Rheumatic fever. The clinical profile of a persistent disease]. / Fiebre reumática. Perfil clínico de una enfermedad persistente.

Clinical and social aspects of patients with rheumatic fever that were studied in the Internal Medicine Department of the "Instituto Nacional de Pediatría" during the last decade were analyzed. Variations observed in the clinical profile all around the world and the sudden and unexpected outbreak of the disease in the United States made this revision necessary so that the pediatrician remains actualized and aware. Damage to the heart is as always a major concern. Laboratory and radiological tests necessary to sustain the clinical diagnosis and those needed for further evaluation are discussed. To mention some social aspects regarding this group is essential because of the great difference between our patients and those recently seen in the United States.

[Abdominal complications of systemic lupus erythematosus]. / Complicaciones abdominales en el lupus eritematoso sistémico.

An analysis is done on the description of lupus erithematous and its diagnostic criteria, while emphasizing abdominal manifestations, its variations as well as the importance in its early detection for opportune treatment. Three patients with intestinal pneumatosis, pancreatitis and intestinal perforation, are described.

[Munchausen syndrome in children: report of 2 cases]. / Síndrome de Munchausen en niños: informe de dos casos.

We report the existence of two cases of an infrequently know form of child abuse, Munchausen syndrome "by proxy" treated in the Department of Internal Medicine of the National Institute of Pediatrics. We have considered it necessary to emphasize the way this clinical entity is presented, pointing out the exact clinical data and how the relatives referred to them when faced with the treating physician, the number of people involved in treating the children as well as the exagerated number of laboratory and X-ray studies performed. The discrepancy in terminology to point to this disease, allows for the use of the term "Munchausen syndrome in children" to differentiate it from that used in psychiatry. The need to alert the medical community who treats these children on this rarely seen disease, will allow for its recognition and early treatment which avoid a reinforcement of the perpetrators attitudes.

[Endrin poisoning]. / Intoxicación por endrín.

We present the case of a fifteen months female patient, who accidentally ingested "Endrin Helios" (cyclodiene organochlorinated pesticide) surviving this event. Clinical manifestations were generalized seizures without neither neurologic or hepatic damage. A review is made about the mechanism of intoxication with the toxic and also about the publications dealing with endrin.

[Algorithm of battered children at entrance to a third-level pediatric hospital center]. / Algoritmo del niño maltratado a su ingreso a un centro hospitalario pediátrico de tercer nivel.

Many factors intervene in the diagnosis and treatment of the battered child, including all types of maltreatment. This factors are related with the patient and his social familiar background. An algorithm was established at the Department of Internal Medicine of the National Institute of Pediatrics (INP) during 10 months, that indicates the steps to be followed when a patient with suspicion of maltreatment is hospitalized. The patients were compared with others, treated with the same problem, hospitalized in other services. 37 patients were studied from which, 17 were physically assaulted, 3 sexually abused, 5 socially deprived, 9 psychologically deprived and in 3 patients maltreatment was discharged. The final algorithm signals the routes to be followed when this type of patients enter a pediatric hospital. Battered child; algorithm in.

[Endocrine behavior of battered children in the acute stage of the aggression]. / Comportamiento endocrino del niño maltratado en la fase aguda de la agresión.

To date the cause of growth retardation of children who have suffered physical abuse and emotional deprivation is unknown. Hypophyseal disturbances in these patients have been proposed of the cause but there are still several concerns on the dynamics of growth hormone secretion in these children. In this study, eleven out of sixteen patients had a low height without important diminution of corporal weight. Growth hormone under basal conditions was found to be elevated in battered children compared with a control group (15.2 +/- 4.7 ng/mL vs 9.6 +/- 1.9 ng/mL, p = 0.025). Two weeks after hospitalization a tendency towards normalization was apparent (13.8 +/- 3.0, NS vs controls). Cortisol, thyroid hormones T3 and T4 as well as thyrotrophin did not show significant changes under basal conditions with respect to control patients although there were some isolated cases with abnormal values. While chronic stress could adversely affect hypophyseal trophic hormone secretion, our study did not show either this were effect nor a clear association between growth retardation and a characteristic abnormal endocrine pattern. It seems that the cause growth and developmental retardation in battered children is of a multifactorial.

[Hepatosplenomegaly of unknown etiology: clinical examination in making a diagnosis in 57 cases]. / Hepatoesplenomegalia de etiología desconocida: abordaje clínico para su diagnóstico en 57 casos.

Fifty-seven patients with the diagnosis of hepatosplenomegaly of unknown cause were studied. Most of the patients were infants and preschool age children. They were evenly distributed by sex. The patients were not undernourished nor did they have low height. However if such was the case, they were usually patients with a metabolic or neoplastic problem. Psychomotor retardation, paleness, jaundice and bleeding were the most common signs and symptoms. Hepatic function tests, complete blood count and urinalysis helped to establish the cause of hepatosplenomegaly in 19 of the 57 patients. Other studies only helped to establish the diagnosis of visceromegaly of unknown cause. Liver biopsy, bone marrow biopsy and a metabolic study were useful to establish the diagnosis in 34 cases. Infectious, metabolic and neoplastic problems were the usual cause for visceromegaly.