ABSTRACT
AIM: Review of hereditary spherocytosis diagnosed in infants younger than two months and their follow up. PATIENTS AND METHODS: Retrospective study of 18 infants younger than two months diagnosed from 1973 to 1995. RESULTS: Diagnosis was established in the first week of life in 50% of the patients. Hereditary pattern was autosomic dominant in 94% of the cases. Anaemia was observed in all the patients and hyperbilirubinemia in only 44%, although the latter was the clinical presentation in patients diagnosed at younger age. Exchange transfusion was performed in 3 children (1 with the severe form and 2 with the typical form of the disease). During the first 6 months of age, 55% of infants presented hemolytic crises that required transfusion in 91% of them. Both periodicity of crises and transfusions decreased to 38 and 44% respectively after the first year. Splenectomy was performed in the 3 children with severe forms and in 6 with typical forms (mean age 8 years and 3 months). No cholecystectomy was required so far. CONCLUSIONS: The authors believe that neonatal spherocytosis does not implicate worse prognosis at follow up. Blood support is higher during the first year of life. Elective splenectomy depends on age and transfusional requirements.
Subject(s)
Spherocytosis, Hereditary/diagnosis , Female , Humans , Infant , Infant, Newborn , Male , Retrospective StudiesABSTRACT
OBJETIVO: Revisión de los niños diagnosticados de esferocitosis hereditaria (EH) antes de los 2 meses de edad y su evolución. PACIENTES Y MÉTODOS: Estudio retrospectivo de 18 pacientes diagnosticados en los primeros 2 meses de vida entre 1973 y 1995.RESULTADOS: La mitad de los pacientes fueron diagnosticados en la primera semana de vida. Se encontró el patrón de herencia autosómica dominante en el 94 por ciento. Se objetivó anemia en el 100 por ciento de los pacientes e ictericia en el 44 por ciento, aunque esta última fue la presentación clínica más frecuente en las formas precoces. Al diagnóstico, 8 pacientes precisaron transfusión de hematíes. De los 3 que precisaron exanguinotransfusión únicamente uno evolucionó a la forma grave de la enfermedad. Se objetivaron un mayor número de crisis hemolíticas (55,5 por ciento) y de necesidades transfusionales (91 por ciento) durante los primeros 6 meses de vida, con disminución a partir del primer año (38 y 44 por ciento, respectivamente). Mientras que en los 3 pacientes con formas graves y en 6 con formas típicas se practicó la esplenectomía a una edad media de 8 años y 3 meses, ninguno de los pacientes ha precisado colecistectomía hasta la fecha. CONCLUSIÓN: No se encuentra una relación clara entre el inicio precoz de la EH y la evolución a formas graves. Las necesidades transfusionales son mayores durante el primer año de vida, con un comportamiento más benigno a partir del mismo. La indicación de esplenectomía viene condicionada por los requerimientos transfusionales y la edad del niño (AU)
Subject(s)
Male , Infant , Infant, Newborn , Female , Humans , Spherocytosis, Hereditary , Retrospective StudiesABSTRACT
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.
