TITLE:
Late Diagnosis of Anorectal Malformations in Children
AUTHORS:
Sejdi Statovci, Salih Grajçevci, Murat Berisha, Gani Çeku, Isber Ademaj, Kujtim Ukeperaj
KEYWORDS:
Delayed Diagnosis, Anorectal Malformations, Constipation
JOURNAL NAME:
Surgical Science,
Vol.6 No.3,
March
19,
2015
ABSTRACT: Anorectal malformations (ARM) include a wide spectrum of congenital
defects of the anus, anal canal and rectum, which are often associated with
congenital anomalies of other organ systems. They appear with different
clinical presentations ranging from simple imperforate anal membrane to very
complex defects. They are usually detected immediately after birth or early at
neonatal age, but some patients with the milder defects are diagnosed at a
later age. Objectives: The aim of this study is to analyze the incidence of
patients with ARM diagnosed after neonatal period, clinical features and
consequences of delayed diagnosis. Materials and Methods: Since 2010 we
performed a combined retrospective and prospective analysis of a total of 76
patients with anorectal malformations, diagnosed and treated at our clinic
between 2005 and 2014. We analyzed patients’ age at the time of diagnosis, sex,
type of defect, associated anomalies and postoperative functional outcome.
Results: 18 patients with ARM (23.68%) were diagnosed beyond the neonatal
period. Of them 11 were female (61.11%) and 7 male patients (38.89%). The
earliest diagnosed patient was a male of three months of age, while the latest
diagnosed patient was a female of 8.5 years of age. All patients had low type anomalies,
presented with anal stenosis (16), perineal fistula (1) and vestibular fistula
(1). Six patients (33.33%) were also diagnosed with associated anomalies.
Conclusion: High incidence of delayed diagnosis of ARM highlights the
importance of a careful, comprehensive clinical examination of the perineum of
newborns. All patients with severe and chronic constipation must be evaluated
for eventually missed diagnosis of low type anorectal malformations.