Paralysed little boy saved by a correct diagnosis and a simple drug
His one-in-a-million condition was so bad he couldn't go to school. Then he was taken to the right doctors
He was diagnosed with epilepsy as a baby, and one side of his body regularly became paralysed for up to five days. Eventually, his preschool said it couldn’t cope with his “uncontrolled epilepsy” and asked his mother to remove him.
Desperate for help, the mother took the five-year-old to Frere Hospital in East London ... and everything changed.
Dr Isabel Michaelis saw the boy in the paediatric neurology clinic and realised he had been misdiagnosed. Instead of epilepsy, he had alternating hemiplegia of childhood, a neurodevelopmental disorder that affects only one person in a million.
“The child would have unprovoked, sudden-onset paralysis of one side of the body,” Michaelis and her colleague Dr Ludo van Hillegondsberg wrote in the March edition of the SA Medical Journal.
“These episodes would last from a few hours to up to five days, and would then resolve completely with no residual effects.
“The frequency of the episodes was unpredictable, ranging from several times a week to only once a month. Occasionally both sides of the body would be involved.
“Notably, the mother revealed that the paralysis would resolve if the child went to sleep during these episodes, and would return 15 to 20 minutes after waking.”
After being taken off his epilepsy medication and treated with a cheap generic drug normally used to prevent migraines, the boy made a dramatic improvement.
Michaelis and Van Hillegondsberg said that over seven months following the boy's diagnosis at the age of eight there was a marked reduction in his episodes of hemiplegia.
“Episodes only occurred about once a month, the extent of the paralysis with each episode was less severe, and symptoms would always resolve in less than 24 hours,” they said.
“Owing to the improved control of his episodes he was able to enrol successfully in a special needs school. His continued progress is being closely monitored.”
In what is believed to be the first published case report in SA on alternating hemiplegia of childhood, Van Hillegondsberg and Michaelis said the disease was caused by a genetic mutation and was difficult to manage and treat.
The usual calcium-channel blocker was not available in SA, so Michaelis decided to try a similar widely available drug, verapamil, which is commonly used to prevent migraines and slow down racing hearts.
“The marked reduction in episode frequency, severity and duration [and] a six-month period free of debilitating episodes ... suggest that verapamil could be a viable alternative in treating alternating hemiplegia of childhood in the SA setting,” they said.