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Infantile Neuroaxonal Dystrophy: Case Report and Review of Literature
Alian Fatima1, Shahd A Abuhijleh1, Abdul Fatah1
1Department of Pediatrics, Saqr Hospital, Ras Al-Khaimah P.O. Box 5450, United Arab Emirates.
Insights
Infantile neuroaxonal dystrophy (INAD) is a rare genetic disorder causing progressive neurodegeneration in children. This case report highlights diagnostic challenges and emphasizes the need for increased awareness and genetic counseling for INAD.
Area of Science:
- Neuroscience
- Genetics
- Pediatrics
Background:
- Infantile neuroaxonal dystrophy (INAD) is a rare, severe neurodegenerative disorder affecting 1:1,000,000 children.
- Pathogenic variants in the PLA2G6 gene on chromosome 22q13.1 cause INAD, with symptom onset typically between 6-18 months.
- The condition leads to developmental regression, muscle weakness, dementia, and ultimately life-limiting respiratory failure within 5-10 years.
Observation:
- This report details a 9-year-old Pakistani girl diagnosed with INAD.
- Her symptoms included recurrent chest infections, developmental regression, speech loss, paralysis, hypertension, and respiratory distress.
- Diagnosis was confirmed via brain MRI and genetic testing, despite overlapping clinical features presenting diagnostic challenges.
Findings:
- The case underscores the diagnostic complexities of INAD due to its varied clinical presentation.
- Genetic testing confirmed pathogenic variants in PLA2G6 as the underlying cause.
- The patient's progression highlights the severe and debilitating nature of the disease.
Implications:
- Increased awareness of INAD among healthcare practitioners is crucial for timely diagnosis.
- Genetic counseling is vital for couples at risk of passing on INAD-associated gene variants.
- Further research into potential genetic therapies and improved supportive care strategies is warranted.
Abstract:
Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder affecting 1:1,000,000 children. It results from pathogenic variants in the PLA2G6 gene located on chromosome 22q13.1. The onset of symptoms usually occurs between 6 and 18 months, causing developmental regression leading to debilitating symptoms such as muscle weakness, dementia, and loss of basic skills. Eventually, it progresses to life-threatening symptoms, including breathing difficulties, which limit the life expectancy to 5-10 years. While potential genetic therapies for treatment are being developed, they are yet to be approved for use, and management remains essentially supportive. This case report is about a nine-year-old Pakistani girl with INAD. She presented with recurrent chest infections, developmental regression, loss of speech, paralysis, hypertension, and eventually breathing difficulties. Brain magnetic resonance imaging and genetic testing confirmed the diagnosis. This case posed diagnostic challenges in view of its overlapping clinical presentation. Through this report, we aim to raise awareness about this condition among practitioners, outline the importance of genetic counseling in susceptible couples, and suggest potential areas of further research.
