Rare Diseases Symptoms Automatic Extraction

Spectrum of colorectal surgery operations performed in a single paediatric surgery unit in sub-Saharan Africa.

[hirschsprung disease]

Colorectal surgery is a budding subspecialty of paediatric surgery and typifies the advances in the management of surgical conditions in children. The colorectal burden in resource poor settings, though reported to be challenging, remains undocumented. The aim of the present study was to review the typical operative paediatric colorectal caseload in a single centre in sub-Saharan Africa.A retrospective review of the operative records of the division was conducted between 2009 and 2013. Data were obtained on the demography, diagnosis, procedure performed and type of anaesthesia used; entered into a computer using SPSS (IBM Corp; Armonk, NY) and analysed.A total of 120 colorectal operations were performed in 90 patients with age ranging from 1 to 13 years. The major diagnoses were anorectal malformations (64.4%) and Hirschsprung disease (HD) (31.1%). The most often performed operations were colostomy (45.0%), posterior sagittal anorectoplasty (17.5%) and pull through (17.5%). The number of colorectal operations performed each year ranged from 12 in 2009 to 36 in 2012. A higher proportion of patients with anorectal malformations (46.6%) presented within the neonatal period compared with those with HD (17.9%), P = 0.005. The age at definitive surgery was less in patients with anorectal malformations compared to patients with HD (P = 0.003).Congenital malformations represent the bulk of the caseload in paediatric colorectal surgery in sub-Saharan Africa and patients typically present late; although patients with anorectal malformations present and are operated upon significantly earlier than those with HD.

Diseases presenting "neonatal period" symptom

  • alexander disease
  • alpha-thalassemia
  • benign recurrent intrahepatic cholestasis
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • cutaneous mastocytosis
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • harlequin ichthyosis
  • hirschsprung disease
  • homocystinuria without methylmalonic aciduria
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kallmann syndrome
  • kindler syndrome
  • lamellar ichthyosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • neuralgic amyotrophy
  • pyruvate dehydrogenase deficiency
  • zellweger syndrome

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