Story of a girl diagnosed with Infantile cerebellar-retinal degeneration
Beginning of the story
A girl was born at 38 weeks of gestation to unrelated parents. Her delivery was done with a Caesarean section, weighing 2.5kg, which is relatively small in size.
Symptoms presented at infancy
Five months after birth, she experienced hearing troubles. Global developmental delay, indicative of the level of 7–9 months of age, was noted on the Korean Infant and Child Development Test performed at age 2 years 6 months.
Recurrent febrile seizures also occurred at the moment.
Additional symptoms during childhood
For her delayed development, rehabilitation therapy has been continuously required.
When she was 10 years old, she was admitted to the ophthalmologist for strabismus(crossed eyes) and nearsightedness, and optic nerve atrophy in both eyes was confirmed. Other symptoms, such as ataxia, dysmetria, and poor sitting balance were also observed.
Further tests conducted
When the girl became 18 years old, a brain MRI was performed. The brain MRI showed mild atrophy of the bilateral cerebellum.
Whole exome sequencing and her family history
As shown above, as she grew up, she developed several symptoms, including eye and brain problems and various developmental delays. Her whole exome sequencing result revealed two VUS(variant of uncertain significance) variants on the ACO2 gene.
The girl’s little sister also presented cerebellar atrophy and optic nerve atrophy. The consistent phenotype with the two sisters and the variants in the ACO2 gene inherited from their parents allowed her doctor to diagnose her as Infantile cerebellar-retinal degeneration.
To learn details about the disease, visit Rare Disease Series #17: Infantile Cerebellar-Retinal Degeneration.
Infantile cerebellar-retinal degeneration (MIM# 614559)