Adrenoleukodystrophy linked to Chromosome X with Neuropsychiatric Symptoms and Frontal Involvement: Case Report

Sergio Abraham Lozano Garza,Arturo Garza Peña,Raúl Calderón,Carlos Aguirre Velázquez,Jesús Santos-Guzmán

doi:10.36648/2472-1786.5.2.84

Abstract

Objective: To compare the cardiac autonomic system at rest and its response to a submaximal aerobic test in children with cerebral palsy (CP) and typically developed (TD) controls. Design: Twenty-five children with CP aged 6-11 and 20 age and gender matched TD controls participated in the study. RR intervals were monitored at rest, while performing the sub-maximal treadmill test, and during the recovery period. The square-root of the mean of successive differences between adjacent RR intervals (RMSSD) was calculated. Results: The median level of the submaximal treadmill test stage was 3 for children with CP (95% CI 0.75-3.25), 16/20 TD children completed all test stages. The Log- Rank statistic (χ2 1=30.4) was highly significant (p<0.001). At rest the RMSSD values in children with CP were significantly lower as compared to children TD, and changed less due to the submaximal test and recovery stages (interaction-effect, F2;86=9, p<0.01). Conclusion: Children with CP show lower RMSSD at rest, and less adaptive to exercise as compared to TD children. Performing physical activity is highly recommended for children with CP, re-educating the cardiac autonomic system is one of its main goals. Assessing the autonomic response to different exercise protocols is the next step needed.

Highlights

Leukodystrophies are demyelinating disorders that affect myelin preservation due to a defect determined by genes [1] such as the ABCD1, PMP-22 and PLP genes
Two types of Adrenoleukodystrophies have been described: a neonatal form, which together with infantile Refsum disease and Zellweger syndrome, share the Zellweger spectrum, and the adrenoleukodystrophy linked to X (X-ALD), which has several subtypes, being the infantile cerebral the most frequent form
Adrenoleukodystrophy linked to X is a demyelinating disorder that significantly deteriorates the patient’s quality of life

Summary

Introduction

Leukodystrophies are demyelinating disorders that affect myelin preservation due to a defect determined by genes [1] such as the ABCD1, PMP-22 and PLP genes. In all X-ALD subtypes patients are incapable to properly metabolize very long-chain fatty acids (VLCFA) due to a peroxisomal failure [2]. A 9-year old male patient was referred to our clinic.

Results

Conclusion