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 | <10 | 19 | Nil | C,P | Nil | PEG feed | Neuropathy |
2. PA F/54 | <10 | 45 | Nil | C,P,V | Hypothyroid | Normal | Myopathya |
3. MB F/54 | 43 | 43 | Nil | P,V | MVR/AVR | IVN | Neuropathy |
4. PB M/died | 47 | 47 | Nil | P,V | CAH, vitiligo, left sided caecum | Deceased | Myopathy |
5. MC M/died | 59 | 61 | Nil | P,D,V | Thrombosis | Deceased | Indeterminate |
6. LF M/67 | 52 | 52 | Yesb | P,C,V, UTI’s | Hydroureters | Normal | Myopathy |
7. NG M/30 | 18 months | 13 | Nil | P,C,V | Pancreatitis | IVN | Myopathy |
8. BH F/37 | 11 | 27 | Nil | P,V | Nil | Normal | Indeterminatec |
9. KH F/22 | 17 | 19 | Dystrophy | C,V | Bladder, angio-oedema | Normal | Myopathy |
10. WH M/66 | 35 | 35 | Nil | P | Nil | Normal | Neuropathy |
11. CJ M/24 | 2 weeks | 2 | Nil | V | Bladder and ureteric distension, undesc. testes, retrograde ejaculation | IVN | Myopathy |
12. PM M/49 | 7 | 10 | Nil | P,C,V | Nil | Normal | Indeterminate |
13. JM M/28 | 13 | 19 | Nil | P,N | Atonic bladder, hydronephrosis | IVN | Myopathy |
14. SS F/39 | 15 | 16 | Yesd | P | Nil | IVN | Myopathy |
15. AS F/46 | 21 | No operation | Nil | C,V,P | Achalasia | IVN | Neuropathye |
16. BT F/34 | 15 | 21 | Nil | C,V,P | Nil | Jejunostomy | Myopathy |
17. HW M/62 | 40 | 58 | Nil | P | Barrett’s oesophagus, thrombocytopenia/leucopenia | Normal | Myopathy |
18. CW F/33 | 18 | 21 | Nil | P,D,V | Nil | IVN | Myopathy |
19. PA M/58 | 57 | 57 | Nil | V,D | Deranged LFTsf | IVN | Myopathy |
20. MD M/56 | 54 | 55 | Nil | V,D | CCF, CRF, hypertension | Normal | Myopathy |
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.