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Pearls & Oy-sters: Tumefactive Demyelinating Lesions With MOG Antibodies Preceding Late Infantile Metachromatic

Gemma Olivé-Cirera1, Maria Jesús Martínez-González1, Thaís Armangué2

  • 1From the Neuroimmunology Program (G.O.-C., T.A.), IDIBAPS-Hospital Clínic, University of Barcelona; Pediatric Neurology Unit Hospital Parc Taulí de Sabadell (G.O.-C.); Pediatric Neurology Unit (M.J.M.-G.), Cruces University Hospital, Barakaldo; and Pediatric Neuroimmunology Unit (T.A.), Neurology Service, Sant Joan de Déu Children's Hospital, University of Barcelona, Spain.

Neurology
|August 30, 2022
PubMed

Insights

Acute neurologic dysfunction in children can signal early juvenile metachromatic leukodystrophy (MLD). This case highlights myelin oligodendrocyte glycoprotein antibodies preceding MLD symptoms, aiding early diagnosis.

Area of Science:

  • Pediatric Neurology
  • Neuroimmunology
  • Demyelinating Diseases

Background:

  • Tumefactive demyelinating lesions and corpus callosum involvement can be early signs of juvenile metachromatic leukodystrophy (MLD) in children.
  • Early diagnosis of MLD is crucial for timely intervention and potentially better outcomes.

Purpose of the Study:

  • To report a case of a child presenting with a specific clinico-radiologic pattern.
  • To investigate the association of this pattern with myelin oligodendrocyte glycoprotein (MOG) antibodies.
  • To determine if this presentation precedes the typical symptoms of late infantile MLD.

Main Methods:

  • Clinical case presentation and detailed neurologic examination.
  • Advanced neuroimaging (MRI) to characterize demyelinating lesions.
  • Cerebrospinal fluid and serum analysis for MOG antibodies and biochemical markers of MLD.

Main Results:

  • The child exhibited acute neurologic dysfunction with tumefactive demyelinating lesions and mild corpus callosum involvement.
  • Myelin oligodendrocyte glycoprotein antibodies were detected several months prior to the onset of progressive MLD symptoms.
  • This presentation served as a sentinel event for the subsequent diagnosis of late infantile MLD.

Conclusions:

  • The described clinico-radiologic pattern, in conjunction with MOG antibodies, may indicate an early stage of juvenile MLD.
  • Identifying this pattern and associated antibodies can facilitate early diagnosis and treatment initiation for MLD.
  • This case underscores the importance of considering MLD in children presenting with specific demyelinating syndromes.

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