Real life puzzle: 4 sisters in the US diagnosed with the same rare disease

Summary

Doctors in the US left puzzled as 4 sisters were diagnosed with same brain and spine medical condition named Chiari malformation.

This is a medical case in West Virginia, US, that has left doctors baffled and puzzled. 4 sisters of the six children of the Higginbotham family in West Virginia were diagnosed with the same rare brain and spine medical condition named Chiari malformation.

The medical condition - Chiari malformation

Chiari malformation is a rare medical condition in which the lower part of the brain expands beyond the skull and juts through the opening where the brain connects with the spinal cord. In other words, part of the skull is too small or malformed that forces the cerebellum into the spinal canal, thereby disturbing the flow of cerebrospinal fluid. This pressurizes the brain and spinal cord giving rise to symptoms like limb weakness, breathing issues, scoliosis, headaches and nerve pain. If left untreated, it leads to chronic pain, nerve damage and even paralysis.

It is a rare disease, the develops before birth, and affects one in every 2000 persons. However there is no known cause of it. About 10% of the disease is caused due to hereditary factors.

The patients

Austyn, the young daughter of Paul and Ashlee Higginbottom was diagnosed with the disease when she was eighteen (18) months old. She was not showing any signs of development and was very fussy at that age. She never smiled, never laughed and was never content. An MRI scan revealed the diagnosis of Chiari malformation.

Two years, after this diagnosis, three of her older sisters Amelia, Aubrey and Adalee were also diagnosed with the same disease but with tethered spinal cords. Tethered spinal cord refers to a malformation where the spinal cord is extremely stretched causing issues like leg pain and other nerve issues.

The surgery

To treat the condition, all the four girls underwent surgical procedures, which were carried out by Dr. Jeffrey Greenfield at the New York – Presbyterian Hospital. The aim of the surgeries was to reduce the pressure on the brain and clip the tethering spinal cords to regulate the flow of cerebrospinal fluid.

The surgeries were successful and other than some minor pain, there are no other symptoms.