Footnotes

• Contributors TAB managed the case from a clinical genetics perspective and wrote the paper. JI and JH performed the genetic studies and assisted with writing the paper. JCS edited the paper and provided genetic advice. PA and AW medically managed the case described and AW and PA edited the case description.

• Funding Dr TAB is funded by a Clinical Lectureship from the National Institute for Health Research.

• Competing interests None.

• Patient consent Obtained.

• Provenance and peer review Not commissioned; externally peer reviewed.