Metachromatic leukodystrophy and the challenges of pediatric palliative care in the Brazilian Public Health System: a clinical case report

Abstract

Abstract Introduction: Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal storage disease caused by Arylsulfatase A deficiency, with progressive demyelination of the nervous system. Without effective curative treatment, pediatric palliative care is the central management strategy and should be integrated from diagnosis. Its early implementation depends on recognizing critical clinical milestones, on communication with the family, and on overcoming institutional barriers. Description: a 3-year-11-month-old male patient with MLD confirmed by exome sequencing was admitted to a public health facility. He presented complete psychomotor regression, tracheostomy, gastrostomy, sacral pressure injury, seizures, and respiratory distress, receiving continuous morphine infusion, anticonvulsants, and supportive care. After initial reluctance, the mother – sole caregiver – agreed to do-not-resuscitate and no ICU transfer orders. Care was provided by a multidisciplinary team with an integrated pediatric palliative approach. Discussion: this case highlights the challenges of early integration of pediatric palliative care in progressive incurable diseases (Group 3), exploring the clinical reasoning behind critical clinical milestones, pharmacological management following the World Health Organization two-step approach for pediatric pain, stepwise communication with the family, and shared end-of-life decision-making. Contextual factors – heterogeneous implementation of palliative care within the Brazilian Unified Health System and maternal caregiver burden – shaped the trajectory. The case report follows the CARE guideline, with a structured timeline and clinical learning points.