Greg is a 28-year-old male with a complex psychiatric history including schizoaffective disorder secondary to juvenile metachromatic leukodystrophy (MLD). His clinical course was insidious, and his diagnosis was delayed for years after his initial symptom onset. Throughout his diagnostic odyssey, Greg experienced a number of atypical neurologic symptoms that hinted at an underlying neurodegenerative process. Despite this, diagnostic imaging and other molecular tests were delayed, ultimately straining the relationship between Greg’s family and his medical team. His experience is presented here and serves as a lesson for clinicians to heighten their awareness of rare causes of neuropsychiatric conditions and to consider a more thorough neurological and imaging evaluation when diagnoses seem to only partially explain a patient’s experience. The availability of hematopoietic stem cell transplantation or gene therapy, together with advanced knowledge of disease pathophysiology, has greatly improved our capacity to improve quality of life and survival in MLD and other childhood-onset leukodystrophies. However, the success of these treatment approaches depends upon early recognition. Awareness of this diagnosis and the current therapeutic options among child and adult psychiatrists is therefore crucial to allow for correct and early patient identification and to avoid pitfalls such as delay in referral to leukodystrophy centers.

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More Than Just Insulation: Leukodystrophies Presenting with Psychiatric Symptoms

  • Nadav I. Weinstock,
  • Ali Fatemi,
  • Amena Smith Fine

摘要

Greg is a 28-year-old male with a complex psychiatric history including schizoaffective disorder secondary to juvenile metachromatic leukodystrophy (MLD). His clinical course was insidious, and his diagnosis was delayed for years after his initial symptom onset. Throughout his diagnostic odyssey, Greg experienced a number of atypical neurologic symptoms that hinted at an underlying neurodegenerative process. Despite this, diagnostic imaging and other molecular tests were delayed, ultimately straining the relationship between Greg’s family and his medical team. His experience is presented here and serves as a lesson for clinicians to heighten their awareness of rare causes of neuropsychiatric conditions and to consider a more thorough neurological and imaging evaluation when diagnoses seem to only partially explain a patient’s experience. The availability of hematopoietic stem cell transplantation or gene therapy, together with advanced knowledge of disease pathophysiology, has greatly improved our capacity to improve quality of life and survival in MLD and other childhood-onset leukodystrophies. However, the success of these treatment approaches depends upon early recognition. Awareness of this diagnosis and the current therapeutic options among child and adult psychiatrists is therefore crucial to allow for correct and early patient identification and to avoid pitfalls such as delay in referral to leukodystrophy centers.