Genotypic and radiological expansion of CONDSIAS

Area of Science:

• Genetics
• Pediatric Neurology
• Neuroscience

Background:

• Childhood-onset neurodegenerative disorders present significant diagnostic challenges.
• Stress-induced neuroregression with ataxia and seizures is a rare genetic condition.
• Understanding the genetic basis is crucial for early diagnosis and management.

Purpose of the Study:

• To report a novel genetic mutation associated with childhood-onset neurodegeneration.
• To describe the clinical and radiological features of a patient with this rare disorder.
• To enhance the understanding of the phenotypic and genetic diversity of this condition.

Main Methods:

• Clinical case presentation of a child with neuroregression and ataxia.
• Brain MRI analysis detailing white matter and putaminal abnormalities.
• Molecular genetic analysis to identify the causative mutation in the adenosine diphosphate-ribosyl serine hydrolase gene.

Main Results:

• A novel homozygous mutation (chr1: g.36093274G>T; c.980G>T) in the adenosine diphosphate-ribosyl serine hydrolase gene was identified.
• The patient presented with paroxysmal torticollis, ataxia, seizures, and encephalopathy.
• Brain MRI showed initial putaminal signal abnormalities with restricted diffusion, progressing to severe generalized atrophy.

Conclusions:

• This case expands the known genetic and radiological spectrum of stress-induced childhood neurodegeneration.
• The highly variable presentation necessitates a high index of suspicion for early diagnosis.
• Identification of this novel mutation contributes to understanding the molecular basis of this rare disorder.