[Ocular findings in children with mucopolysaccharidosis]. / Hallazgos oculares en niños con mucopolisacaridosis.

OBJECTIVE: to describe the ocular findings in children with mucopolysaccharidosis at the Ophtalmology department. METHODS: clinical, descriptive, retrospective, transversal, and observational study was done. The cohort included patients under 16 years old, treated at the Hospital General, Centro Médico Nacional La Raza, with diagnosis of mucopolysaccharidosis. The variables were age, gender, damaged eye, visual acuity, ocular findings, type of mucopolysaccharidosis. RESULTS: there were 11 patients with mucopolysaccharidosis, 10 of them (90.9 %) full filled the inclusion criteria; nine were men. Mean age was 5.5 ± 2.8 years. There were ocular findings in both eyes in 60 % of the patients, 10 % of them in just one eye. The most frequent finding was corneal opacity (70 %), bilateral in 85.7 %, and in a single eye in 14.3 %. The ocular findings (40 %) were common in mucopolysaccharidosis type I. CONCLUSIONS: there is visual sequels secondary to mucopolysaccharidosis. It is important to study the ocular disorders in order to treat it timely and give to patients the immediate rehabilitation to improve the quality of life.

[Perinatal encephalopathy sequelae identified by a neurobehavioral scale in one year old infants]. / Secuelas de encefalopatía perinatal identificadas con una escala de desarrollo neuroconductual.

OBJECTIVE: to identify neurodevelopmental sequelae in one year old infants with perinatal encephalopathy utilizing the neurobehavioral scale named Vanedela. METHODS: a cohort of 75 newborns with perinatal encephalopathy was assessed with a neurobehavioral follow-up scale at age of 1, 4, 8 and 12 months. A distinction was made between functional, structural and combined encephalopathy. Two groups of neurodevelopmental outcome at one year were identified: with or without sequelae. Nonparametric statistics was used. RESULTS: infants with functional encephalopathy had the best scores, followed by those with structural encephalopathy, while infants with a combined encephalopathy had the lowest scores. At one year of age, the group with neurobehavioral sequelae exhibited the lowest scores and retarded growth. At the same age, the group with functional encephalopathy exhibited no neurobehavioral sequelae, and reached better scores and growth. CONCLUSIONS: the neurobehavioral follow-up scale is able to identify the neurodevelopmental sequelae at the age of one year in infants with perinatal encephalopathy. The application of Vanedela in the clinical field requires of little time, its results are trustworthy and very useful for the neurobehavioral follow-up assessment.

[Clinical and metastatic characteristics in retinoblastoma]. / Características clínicas y metastásicas en retinoblastoma.

BACKGROUND: retinoblastoma is an intraocular malignancy of the childhood. Tumor invasion and metastases are the cause of mortality. The objective was to determine the clinical characteristics, the appearance and site of metastases in patients with retinoblastoma. METHODS: descriptive, observational, retrospective and cross-sectional study was carried out. We reviewed 86 patients with retinoblastoma. RESULTS: the average age was 24.5 months. There were 51.2 % women. 75.6 % had unilateral presentation and 24.4 % bilateral; two of these were trilateral The clinical manifestation were leukokoria, strabismus and glaucoma. We found metastatic disease in 18 patients (20 %), being the central nervous system (CNS) and bones frequently affected. The metastases odds ratio was 3.50 associated to choroidal invasion; 6.25 for patients with invasion to optical nerve with edge with tumor; 3.75 for which they had choroidal invasion and optic nerve with free edge and 5.62 for patients with choroidal invasion and optic nerve with surgical edge with tumor. CONCLUSIONS: choroidal invasion and surgical edge with tumor showed a greater relative risk for development of metastatic disease. The sites commonly affected were the CNS and bones.

[Peroxisomal D-bifunctional enzyme deficiency. A case report]. / Deficencia enzimática D-bifuncional peroxlsomal. Caso clínico.

Newborn was referred with diagnosis of neonatal epilepsy. Medical team could suspect and confirm D-bifunctional peroxisomal enzymatic deficiency diagnosis. It was made by family antecedents, severe neonatal hypotonia, uncontrolled neonatal seizures, craniofacial dysmorphic features, psychomotor retardation, neuronal migration defect and a positive peroxisomal panel. The full study in skin fibroblasts involved enzyme analysis, complementation studies and DNA analysis. The accumulation of very long chain fatty acids, partial deficiency in phytanic acid oxidation, and abnormal morphology of peroxisomes was consistent with a defect in peroxisomal fatty acid oxidation, involving D-bifunctional protein. It is very important to make a diagnosis of this innate error of metabolism in order to give preconceptional genetic counseling, to identify recurrence risk and to perform mutation analysis for the D-bifunctional protein gene, and to offer the prenatal diagnosis.

Epidemiological characteristics of retinoblastoma in children attending the Mexican Social Security Institute in Mexico City, 1990-94.

The object of this study is to present descriptive epidemiological characteristics of retinoblastoma (Rb) in children aged 0-14 years, seen at the Mexican Social Security Institute hospitals in Mexico City (MC) from 1990 to 1994. This is a retrospective, observational hospital survey. Clinical records of 52 Rb cases were reviewed; 39 were patients who did not reside in MC (non-residents), and 13 were MC residents. The study period was 1990-94. The male/female ratio (M/F) was 1.6. Average annual incidence (AAI) was estimated by age and sex (rates per 1000000). Annual average percentage change (AAPC) in incidence rates was estimated in children from 0 to 14 years. The AAI for MC residents was 3.2; the highest rate being for those <1 year olds (rate of 20.8); AAPC was 6.9% [95% CI -27.5, 57.4]; the highest incidence was for the south-eastern region of MC residents (rate of 5.9); 13 cases (25%) were diagnosed at stage III or IV, and 11 cases (21.2%) were bilateral. Incidence of Rb is similar to that in developed countries and shows no increasing trend. Patients from communities outside MC are more frequently diagnosed at stages III and IV.