Profile of the Patients with Myelomeningocele from the Associação de Assistência à Criança Deficiente (AACD) in São Paulo – SP, Brazil

Abstract

Myelomeningocele (MMC) is the most frequent of the Neural Tube Defects, with 85% of the cases. The etiology is unknown, but it has genetic and environmental characteristics. The diagnosis can be achieved in the prenatal period through the morphological ultrasonography. The closing of the defect within the first hours after birth is recommended as well as the early control of hydrocephalus. Objective: To describe the profile of the patients treated at the Myelomeningocele Clinic of the Assistance Association to the Defective Child - AACD – SP and assess their clinical condition upon admission at the Institution, aiming at verifying whether the early diagnosis has been attained and improving treatment procedures. Methods: To review the files of patients seen at the initial assessment of the MMC Clinic of AACD – SP during the year of 2000, aged younger than one year. The information was obtained from patients’ files through a research protocol and consisted of personal data, neurological level at the first assessment, prenatal diagnosis, age at the closing of the defect and presence or absence of ventriculoperitoneal shunt (VPS). Results: A total of 230 patients were assessed in the year 2000. Of these, 64 (27%) were younger than 1 year at the initial assessment. Mean age at the initial evaluation was 5 months and 44% of the patients were females, whereas 56% were males. Diagnosis at the prenatal period had not been achieved in 37% of the patients. The closing of the defect was performed within the 24 hours after birth in 51% of the patients. Only 17% of the patients had not undergone VPS at the time of the initial assessment. The neurological assessment at the initial evaluation disclosed 35% thoracic, 29% high lumbar, 24% low lumbar, 11% asymmetric and no patient at the sacral level. Conclusion: The AACD - SP is a Reference Center in the treatment of MMC and this might account for the fact that the center receives a large number of children with higher functional levels. It is important to try to stimulate not only the prevention, but also the diagnosis and early treatment of this pathology, aiming at decreasing its impact on society. The lack of or late diagnosis of MMC was an expected finding in the present study, as the morphological ultrasound is not routinely performed in Basic Health Units in our country during the prenatal follow-up. The survival of patients with MMC has increased due to the early closing of the defect and hydrocephalus control through VPS, associated with posterior control of the neurogenic bladder.