Table 1

 Patients’ clinical characteristics

Patient/sex /age Age at symptom onset (y) Age at first operation (y) Family history Main symptoms Non-GI involved Nutritional status Pathology
1. RA F/26<1019NilC,PNilPEG feedNeuropathy
2. PA F/54<1045NilC,P,VHypothyroidNormalMyopathya
3. MB F/544343NilP,VMVR/AVRIVNNeuropathy
4. PB M/died4747NilP,VCAH, vitiligo, left sided caecumDeceasedMyopathy
5. MC M/died5961NilP,D,VThrombosisDeceasedIndeterminate
6. LF M/675252Yesb P,C,V, UTI’sHydrouretersNormalMyopathy
7. NG M/3018 months13NilP,C,VPancreatitisIVNMyopathy
8. BH F/371127NilP,VNilNormalIndeterminatec
9. KH F/221719DystrophyC,VBladder, angio-oedemaNormalMyopathy
10. WH M/663535NilPNilNormalNeuropathy
11. CJ M/242 weeks2NilVBladder and ureteric distension, undesc. testes, retrograde ejaculationIVNMyopathy
12. PM M/49710NilP,C,VNilNormalIndeterminate
13. JM M/281319NilP,NAtonic bladder, hydronephrosisIVNMyopathy
14. SS F/391516Yesd PNilIVNMyopathy
15. AS F/4621No operationNilC,V,PAchalasiaIVNNeuropathye
16. BT F/341521NilC,V,PNilJejunostomyMyopathy
17. HW M/624058NilPBarrett’s oesophagus, thrombocytopenia/leucopeniaNormalMyopathy
18. CW F/331821NilP,D,VNilIVNMyopathy
19. PA M/585757NilV,DDeranged LFTsf IVNMyopathy
20. MD M/565455NilV,DCCF, CRF, hypertensionNormalMyopathy
  • C, constipation; P, pain; V, vomiting; N, nausea; D, diarrhoea; IVN, intravenous nutrition; UTI, urinary tract infection; MVR, mitral valve replacement; AVR, aortic valve replacement; CAH, chronic active hepatitis; PEG, percutaneous endoscopic gastrostomy; LFTs, liver function tests; CCF, congestive cardiac failure; CRF, chronic renal failure.

  • aAlpha-actin defect in the circular muscle layer.13

  • bFamily history: one child has megaduodenum and symptoms of gastro-oesophageal reflux, a second child has bilateral megaureters, and a third has unilateral megaureter.37

  • cNo histology available.

  • dFamily history: probable autosomal dominant inheritance.27

  • eNo histology available: based on gut dilatation and small bowel manometry.

  • fLiver biopsy shows non-specific reactive changes.