RARE DIAGNOSIS

Rachel Fieldhouse AN unusual spinal fracture led

GP Dr John Manton to uncover a rare genetic disorder that would have probably gone undiagnosed without him .

His patient was already 40 when he presented to him after minor trauma .

“ We did a thoracic spine X-ray which showed a bit of wedging , which was unusual ,”

the deletion , but some characteristic signs include abnormalities of the head and face , intellectual impairment and short stature .

“ I did some googling and thought , this is very rare , and sent it to a physician who said there was not a lot we could do ,” says Dr Manton .

After addressing his bone density , the patient was otherwise well , Dr Manton says .

“ There ’ s a bunch of

‘ He was one of those people who probably would have gone completely undiagnosed .’

things that can potentially go wrong , but he ’ s got none of those ,” he says .

“ He ’ s just one of those people who probably would have gone completely undiagnosed .”

Dr Manton likes to think it is a reminder for GPs to “ remain curious ”, investigate unusual symptoms and seek a second opinion .

“ The reality is that the real detectives in medicine

are people in primary care , and detective work on its own can be very satisfying . “ If you detect something rare and it has potentially been missed by other people , you feel very self-satisfied .

“ Smug is the word .”

If you have your own story of making a rare diagnosis , please email Rachel Fieldhouse at rachel . fieldhouse @ adg . com . au .

Dr John Manton .

says Dr Manton , who works in

Gympie , about 200km north of

Brisbane .

“ I did his bone density and

it was low .

“ In somebody like that , you think : what ’ s the secondary cause ?”

ICS / LABA / LAMA IN A pMDI 1

The patient was well androgenised

but his testosterone was

“ borderline low ”.

He also had congenital deafness

, short stature and mild

intellectual disability .

“ He was one of those guys

who you ’ d look at and , if he was

a child , you would think ‘ funny

looking kid ’,” says Dr Manton .

“ The thing that struck me

was it might be Klinefelter syndrome

, even though he wasn ’ t

very tall .”

Genetic testing for the syndrome

was negative .

Instead , it showed a deletion

on chromosome 13 in bands

21-22 .

Of around 140 reported

cases of 13q deletion syndrome

— involving partial or complete

deletion of the large ‘ q ’

arm of chromosome 13 — only 17

involved full or partial deletion

of these particular bands .

Symptoms can vary depending

on the size and location of

Rachel Fieldhouse A $ 200 Medicare rebate for iron infusions in general practice would save up to $ 123 million a year by keeping patients out of hospital , the RACGP says .

Under its proposal , $ 90 would subsidise the time taken by a GP to calculate the dose , discuss the procedure and document patient consent , while $ 50 would cover a nurse administering the infusion .

The college said the remaining $ 60 would cover the cost of consumables , standard practice overheads and materials “ necessary to respond to anaphylaxis ”.

In its submission , the college said GPs would only be able to bill the item once every 12 months for patients diagnosed with iron deficiency anaemia .