Objective: To raise awareness and assist in recognizing the signs of neurodegenerative disorders as they are presented in a chiropractic office for assessment. This report addresses the clinical presentation, neurologic examination and a discussion about the clinical detection of neurodegenerative disorders in children.
Clinical Features: A case of Leigh disease in a 4-month-old boy. Chiropractic care was sought for gastroesophageal reflux and difficulty feeding. Physical examination revealed hypotonia, developmental delay and abnormal cranial nerve function.
Intervention and Outcome: Due to neurologic presentation, an immediate referral for medical evaluation was done. The child was diagnosed with Leigh disease and passed away one month later. Discussion: Leigh syndrome is a heterogeneous and progressive neurodegenerative disorder of infancy and childhood caused by a mitochondrial dysfunction. Central hypotonia, developmental regression or arrest, and signs of brainstem or basal ganglia involvement (respiratory and ophthalmologic abnormalities, dysphagia, ataxia, dystonia and seizures) are a classical presentation.
This inherited disease is fatal and rapid medical referral is required for patients presenting this condition.
Conclusion: Chiropractors should obtain a precise case history and perform a complete physical and neurological examination to investigate for neurodevelopmental delay or regression. Neurologic abnormalities should be quickly referred for medical investigation to identify the underlying condition.
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