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Psychotic attack during the clinical course of megalencephalic leukoencephalopathy with subcortical cysts: a case

Pınar Aydoğan Avşar1, Elif Akçay2, Esra Gürkaş3

  • 1Department of Child and Adolescent Psychiatry, Alanya Education and Training Hospital, Antalya, Turkey. dr_pinaraydogan@hotmail.com.

European Child & Adolescent Psychiatry
|July 22, 2024
PubMed
Abstract

Insights

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) can manifest with early-onset psychosis. This case highlights a young patient with MLC experiencing a psychotic attack, suggesting a potential link between MLC and psychiatric symptoms.

Area of Science:

  • Neuroscience
  • Genetics
  • Psychiatry

Background:

  • Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare, progressive neurodegenerative disorder.
  • MLC is characterized by macrocephaly and leukoencephalopathy with subcortical cysts.
  • The genetic basis of MLC involves mutations in the MLC1 gene.

Purpose of the Study:

  • To report the first case of a psychotic attack in a patient with Megalencephalic leukoencephalopathy with subcortical cysts (MLC).
  • To explore the potential influence of MLC on the onset of psychotic symptoms.

Main Methods:

  • Case presentation of an 11-year-old girl diagnosed with MLC at 18 months.
  • Detailed description of the patient's psychotic symptoms including delusions, hallucinations, and irritability.
  • Documentation of treatment response to risperidone and valproic acid for psychotic symptoms and EEG abnormalities.

Main Results:

  • The patient presented with a psychotic attack at a young age, a novel observation in MLC.
  • Psychotic symptoms showed improvement with antipsychotic and anticonvulsant medication.
  • The case involved a confirmed homozygous MLC1 mutation.

Conclusions:

  • This case study reports the first instance of a psychotic attack during the clinical course of MLC.
  • The findings suggest a possible association between MLC and the development of psychotic attacks.
  • Further research involving larger patient cohorts is necessary to elucidate the relationship between MLC and psychosis.
Keywords:
LeukodystrophyMLC1PsychosisSchizophreniaVan De Knaap Disease

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