Abstracts/Presentation Description
Jonathan McGuane1,2
1ACT Pathology, Canberra Health Services; 2School of Medicine and Psychology, Australian National University
Total intestinal aganglionosis is a rare condition which comprises less than 1% of Hirschsprung’s disease cases. We present the case of an early term female neonate who developed clinical signs of gastrointestinal obstruction shortly after birth, and failed to pass meconium. Recurrent invasive ventilatory support was also required due to poor respiratory effort during sleep periods, and a diagnosis of congenital central hypoventilation syndrome (CCHS) was made. Rectal suction biopsies performed on D8 of life showed no ganglion cells, and laparoscopic examination of the bowel on D17 demonstrated a grossly dilated jejunum with microileum/microcolon. Biopsies from the jejunum were aganglionate. Further biopsies taken on D26 up to and including the stomach confirmed aganglionate intestinal tract to the stomach. Given the patient’s co-existent CCHS, she was deemed an unsuitable candidate for an intestinal transplant, and was palliated, passing away on D35. Post-mortem examination confirmed the clinical impression of microileum and microcolon. Microscopically, there was hypoganglionosis of the oesophagus, with total aganglionosis of the stomach, small and large bowel. The combination of CCHS and intestinal aganglionosis is known as Haddad syndrome, an extremely rare clinical entity. In this case, genetic analysis demonstrated de novo expansion of the PHOX2B gene, supporting the diagnosis.
1ACT Pathology, Canberra Health Services; 2School of Medicine and Psychology, Australian National University
Total intestinal aganglionosis is a rare condition which comprises less than 1% of Hirschsprung’s disease cases. We present the case of an early term female neonate who developed clinical signs of gastrointestinal obstruction shortly after birth, and failed to pass meconium. Recurrent invasive ventilatory support was also required due to poor respiratory effort during sleep periods, and a diagnosis of congenital central hypoventilation syndrome (CCHS) was made. Rectal suction biopsies performed on D8 of life showed no ganglion cells, and laparoscopic examination of the bowel on D17 demonstrated a grossly dilated jejunum with microileum/microcolon. Biopsies from the jejunum were aganglionate. Further biopsies taken on D26 up to and including the stomach confirmed aganglionate intestinal tract to the stomach. Given the patient’s co-existent CCHS, she was deemed an unsuitable candidate for an intestinal transplant, and was palliated, passing away on D35. Post-mortem examination confirmed the clinical impression of microileum and microcolon. Microscopically, there was hypoganglionosis of the oesophagus, with total aganglionosis of the stomach, small and large bowel. The combination of CCHS and intestinal aganglionosis is known as Haddad syndrome, an extremely rare clinical entity. In this case, genetic analysis demonstrated de novo expansion of the PHOX2B gene, supporting the diagnosis.
Speaker/Presenting Authors
Authors
Submitting/Presenting Authors
Dr Jonathan McGuane - ACT Pathology, Canberra Health Services; and School of Medicine and Psychology, Australian National University (ACT, Australia) , Dr Lavinia Hallam - ACT Pathology (ACT, Australia) , A/Prof Mitali Fadia - ACT Pathology, Canberra Health Services; and School of Medicine and Psychology, Australian National University (ACT, Australia)