Abstract
INTRODUCTION AND IMPORTANCE: Metachromatic leukodystrophy (MLD) is a rare genetic disorder affecting the central and peripheral nervous systems. It results from ARSA enzyme deficiency, causing sulfatide accumulation and myelin damage. Early diagnosis is crucial, and this case highlights the diagnostic challenges and rapid health deterioration associated with MLD. CASE PRESENTATION: A 14-month-old male, initially presenting with fever and crying during micturition, experienced a devastating health decline. Previously, he had achieved developmental milestones but rapidly lost motor and cognitive skills. Extensive investigations led to an MLD diagnosis, complicated by severe malnutrition. Despite medical interventions, his condition worsened, leading to cardiopulmonary arrest and a tragic end. CLINICAL DISCUSSION: MLD is an exceedingly rare genetic disease with systemic effects, as illustrated by severe metabolic acidosis in this case. Early diagnosis, through comprehensive investigations like MRI, is critical, but MLD's rapid progression poses challenges in management. Therapeutic options remain limited, emphasizing the importance of a multidisciplinary approach. CONCLUSION: This case emphasizes the insidious nature of MLD, highlighting the need for considering rare genetic conditions in unexplained neurological regression. It underscores the urgency of improved awareness, early diagnosis, and comprehensive care for individuals affected by such devastating disorders. Despite the challenges, the medical community's dedication to providing care and support remains unwavering.