Rare Diseases Symptoms Automatic Extraction

Serious rectal bleeding complicating suction rectal biopsy in a child.

[hirschsprung disease]

Rectal suction biopsy is the first step in evaluating suspected Hirschsprung's disease before a full thickness rectal biopsy is planned. It has an excellent safety profile and generally good yield. However, there have been rare reports of serious complications with this procedure and at least one death, mostly in the neonatal period and under one year of age, at the time of diagnosis. We report a case of a 2 year old child with suspected Hirschsprung's disease who underwent rectal suction biopsy and developed delayed bleeding requiring a blood transfusion. To the best of our knowledge, this is the first report of an older child, greater than one year of age, developing this serious complication at the time of rectal suction biopsy. Discussion of the technique as well as the patient's presentation and his outcome are provided. Pediatric gastroenterologists and pediatric surgeons performing rectal suction biopsy may need to be aware of this risk even with older children.

Diseases presenting "first report" symptom

  • achondroplasia
  • alexander disease
  • aniridia
  • cadasil
  • canavan disease
  • child syndrome
  • cohen syndrome
  • congenital toxoplasmosis
  • cowden syndrome
  • cushing syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dedifferentiated liposarcoma
  • dentinogenesis imperfecta
  • dracunculiasis
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erdheim-chester disease
  • esophageal squamous cell carcinoma
  • fabry disease
  • familial mediterranean fever
  • focal myositis
  • harlequin ichthyosis
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • inclusion body myositis
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kindler syndrome
  • krabbe disease
  • lamellar ichthyosis
  • liposarcoma
  • lymphangioleiomyomatosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • oligodontia
  • omenn syndrome
  • pendred syndrome
  • pleomorphic liposarcoma
  • primary hyperoxaluria type 1
  • pyomyositis
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • triple a syndrome
  • typhoid
  • waldenström macroglobulinemia
  • werner syndrome
  • wiskott-aldrich syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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