Tratamiento rehabilitador en un paciente con citrulinemia tipo I asociada a deficiencia de beta-ureidopropionasa, primer caso reportado

Abstract

Introduction and objectives

Beta-ureidopropionase deficiency and citrullinemia type I are rare inborn errors of metabolism. The objective of this study is to present a clinical case with the presence of the two genetic pathologies confirmed with molecular analysis and to design a multidisciplinary rehabilitative treatment based on the International Classification of Functioning, Disability and Health (ICF).

Materials and methods

A female patient with a moderate physical and intellectual disability is presented, with neurological damage secondary to metabolic deregulation; additionally, he has deficiencies in: gait, posture, neurosensory area and limitations in Basic Activities of Daily Living (BADL). A therapeutic intervention based on the ICF was carried out and multidisciplinary rehabilitation treatments of physiotherapy (20 sessions), occupational therapy (10 sessions) and psychology (15 sessions) were designed. The results obtained were evaluated with clinical and psychological assessments and with the application of scales such as: EPlfant, WeeFIM and the Get Up and Go Test and visual gait analysis.

Results

A result of 70% improvement in gait and posture was obtained. 70% improvement in ABDL, in the neurosensory and psychomotor area. Better psychosocial performance was promoted, with improvement in cognitive and recreational activities.

Conclusions

This is the first case reported in the literature with a new mutation not registered in ClinVar. It is important to apply the ICF in all patients with disabilities, to determine specific rehabilitation treatment objectives in a multidisciplinary manner.