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Objective: Our objective was to evaluate the efficiency of a single surgical intervention in patients with symptomatic interventricular septal defects during the first six months of life., Patients and Methods: Between 1989 and 1997, 42 patients, 20 males and 22 females with an average age of 3.9 +/- 0.3 months and an average weight of 4 +/- 0.4 kg, were operated. Seven suffered from Down's syndrome. All of the patients became symptomatic during the first two months of life. The defect was localized by using Echo-Doppler in all of the cases. Thirty-six had perimembranous ventricular septal defects, 2 were muscular, 3 multiple and 1 was infundibular. The average defect size was 8 +/- 1.2 mm. A catheter was placed in 34 patient with the following results: Left to right shunt with 2.2 +/- 1.2, right ventricle systolic pressure of 57 +/- 20 mmHg (16 with systemic pulmonary pressure) and an average pulmonary pressure of 38 +/- 1.8 mmHg. The average pulmonary vascular resistance was 28 +/- 1.8 U/m2. Deep hypothermia (18 degrees C was applied during the surgery and the average cardiac arrest time was 31 +/- 4 minutes., Results: None of the patients died during or after the surgical procedure. Patients required minimum ionotropic support during the first hours. The average time in the intensive care unit was 3.5 +/- 0.6 days, with an average hospitalization time of 11.2 +/- 2.1 days. Immediate complications included one hypertensive crisis, four junctional ectopic tachycardias, two atrio-ventricular blocks, 1 transient arrhythmia, two atelectasia-pneumonias, two patients with stridor and two sternal infections. During the follow-up period, two patients required a second intervention to repair the patch., Conclusions: We believe that one-time surgery is adequate to correct symptomatic ventricular septal defects.

The detailed clinical history of a patient with a partial cytochrome c oxidase (COX) deficiency, which was demonstrated both in muscle and liver tissues, is presented. The review of the 27 pediatric cases published shows the multisystemic involvement of this enzyme deficiency and its vast clinical heterogeneity. In addition to the classical findings (myopathy, Debré-DeToni-Fanconi syndrome and lactic acidosis), our patient presented: Neurosensorial hearing loss, feeding problems, failure to thrive and hypertrophic myocardiopathy. Clinical or neuroradiological findings suggestive of Leigh's syndrome were not found despite her partial COX deficiency, neurosensorial hearing loss has been observed in four other patients with COX deficiency. Therefore, this enzyme deficiency should be considered in the differential diagnosis of neurosensorial deafness in infancy.

Bone marrow transplant has proved to be an effective treatment in some hereditary metabolic diseases and, especially, in mucopolysdaccharidosis (MPS). A 9-year-old girl, of consanguineous parents, with MPS Type I, Hurler-Scheie syndrome, received a BMT from her heterozygous, HLA-compatible mother. -L-iduronidase activity in leukocytes and fibroblasts was undetectable and glycosaminoglycans (GAG) excretion in urine was very high. BMT conditioning treatment consisted of Busulfan (16 mg/kg) and Cyclophosphamide (120 mg/kg); clinical course was uneventful. Sixty days post-BMT iduronidase activity in leukocytes was similar to that of the donor and GAG levels were normal at 12 months. Echocardiography showed regression in hypertrophic myocardiopathy. Previously enlarged and vacuole-filled skin fibroblasts became reduced in size and vacuole content. The most notable clinical effects were: improved facial features, increased height, disappearance of visceromegalies, gradual clearing of corneal opacities with improved vision and reduced joint stiffness. It is concluded that the gradual deterioration in patients with MPS-I may be arrested and many clinical features improved by BMT.

Twenty seven newborn with serious meconial aspiration syndrome are studied. Two groups are stablish weather they require or not mechanical ventilation during evolution. When comparing various perinatal and clinical data, only the Silverman test showed statistically significant differences; pH and gases in blood during the first hours of life did not showed differences. Pneumothorax incidency in both groups was 33%. Twelve newborn required mechanical ventilation. The starting age was 24 hours of life range 3-54 hours. Most frequent indication was hipoxemia and apnea. Use of intermitent positive pressure improved PaCO2 with a light increase in PaO2 though it also increased alveolo-arterial oxygen gradient. Hipoxemia was the most relevant data in evolution of these patients. In seven cases continuous distending pressure was applied, with a light increase in PaO2 only in three patients. No patient suffered pneumothorax during mechanical ventilation. In patients with mechanical ventilation mortality was 25%. The possibility of an addition in certain cases of pulmonary hypertension with right-to-left shunting ductal and atrial is reported.

Two newborns with abdominal perforation during peritoneal dialysis are presented. The first probably before dialysis and the second iatrogenic. Both needed surgical intervention. Incidence in children in comparation with adults is discussed. Severe clinic complications of both patients that needed complete parenteral nutrition, mechanic ventilation and treatment of Candida sepsis are comented. Both survived without sequels in spite of severe complications.

To determine the incidence of renal involvement in Schönlein-Henoch syndrome, authors enrolled in a prospective study all children admitted with this diagnoses from 1971 through 1978. They followed-up 112 patients, which represented the 2 per one thousand of the total hospital pediatric admission in the same period; 22 patients (19.6%) developed renal involvement. After two years of follow-up they observe one patient with progressive renal failure, four with minor urinary abnormalities and 17 asymptomatics. The single patient with renal failure represents the 4.5% of the patients with Schönlein-Henoch nephropathy and the 0.9% of the total affected with this syndrome.

We report the case of an infant with facial dysmorphism, congenital hydrocephalus, severe hypotonia and absence of psychomotor development, with ocular and cerebral malformations consistent with the diagnosis of Walker-Warburg syndrome (WWS). Investigations included a cerebral CT scan indicative of type II lissencephaly and a muscular biopsy which showed findings of muscular dystrophy. The association of hypotonia, developmental delay and seizures with a neuronal migration disturbance and retinal involvement raised the suspicion of a peroxisomal disorder. The pertinent biochemical investigations, however, were negative. The features of this syndrome are reviewed, emphasizing the similarities with other related disorders as cerebro-oculo-muscular syndrome. We suggest that muscle involvement should be investigated in every case of WWS.

Maternal, perinatal and neonatal factors of 27 newborns of heroin addicted mothers were reviewed between 1980 and 1984. Results were compared with a control group of 2,587 normal newborns. A progressive increase in number of cases was observed in the last years. Mean age of heroin-addicted mothers was significant lower than control group (p less than 0.001). Only 18.5% were under obstetrical control for at least 4 times (p less than 0.001) and 40.7% had antecedents previous abortions (p less than 0.025). Four cases of maternal syphilis were diagnosed and also four mother were positive to HBsAg; statistical difference in both cases was highly significant with respect to control group (p less than 0.001). A higher index of premature rupture of membranes (11.1%, p less than 0.001) and cesarean sections (25.9%, p less than 0.001) was appreciated. No significant difference was observed attending to fetal presentation, instrumental delivery, Apgar test scores and pH of umbilical artery (p greater than 0.05). A higher incidence of preterm (18.5%, p less than 0.01) and small for gestational age babies (44.4%, p less than 0.001) was ascertained. Pregnancy control and no smoking habit might influence birth weight (p less than 0.001). Neonatal withdrawal syndrome was present in 44.4% and was related to mother's last dose and secondary to degree of heroin abuse (p less than 0.025).

Three patients with Meconium Aspiration Syndrome (S.A.M.) and severe hypoxemia are reported. From the first hours of life they needed mechanical ventilation, showing no improvement in PaO2 in spite of usual respiratory support measures. In one case, pulmonary hypertension and ductal right to left shunt through ductus arteriosus and foramen ovale was objetivated by cardiac catheterization. Following intravenous prefusion of a pulmonary vasodilator (Tolazoline) patients showed a clinical amelioration and a definite increase in PaO2. Results and evolution with the use of this drug are commented.