An Australian child with microcefalculachemis syndrome (MCDS) and a medical condition called microcephelalgia (MC) has had a CT and CT scan done, and doctors are hopeful it could lead to the diagnosis of a condition that can lead to seizures.
The family of the 13-month-old girl, named in court documents as Jamey, were at her home in the town of Burwood when a CT was done in February 2016, the Australian Medical Association (AMA) said.
The CT scan showed a significant increase in fluid and gas, and a slight increase in blood flow in the cerebrospinal fluid (CSF), the main blood supply to the brain.
Doctors also detected elevated levels of the protein called ceramides in Jameys blood, which can cause the formation of microcerebral haemorrhages.
“We are optimistic that the results of the CT scan, along with other data, will provide an insight into what is causing Jameyl’s condition,” Dr David Gannon, an AMA vice president, told the ABC.
“The results are very encouraging and we would urge people with children with microcephalic disorders to speak to their GP or paediatrician.”
Doctors say a CT scanning can provide important clues to diagnosis and treatment of children with MCDS.
“If you are worried that your child may have MCDS or microcephi, please speak to your paediatricians first,” Dr Gannon said.
“A CT scan is a good way of identifying and treating a condition.”
Dr Gannon says Jameey has a high risk of developing MCDS, which is a form of cerebral palsy.
“She is currently at high risk and we need to make sure that we are treating the right way and getting the right care to her to help her make the best decision,” he said.
A CT scanner has been used in the past to diagnose microcepal-type conditions like MS, but the technology is not used widely because of its limited resolution and it is expensive.
The Aussie family say they have had a positive response to their case, and hope to find a CT scanner to help with the diagnosis.
“It is such an exciting time to be a family and to have a little bit of closure and have something that we can share with the world,” Jameya’s father, David Gagan, told ABC News.
“To share this with our family and be able to have something like that for them to see is something we will always be thankful for.”
Jamey’s family also hopes that the diagnosis will lead to a treatment plan.
“I feel like I am living my dream.
I am really excited and I am so excited for my daughter,” his father said.
“I just hope it goes in the right direction.”
Jadey is expected to undergo more tests and is expected in the hospital within a few weeks.
Her parents are now looking for a medical team to help them with their medical bills.
The Australian Medical Council (AMA), the health professional association for doctors, said it was not commenting on the case.