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Cystic leukoencephalopathy without megalencephaly

Case contributed by Bruno Lorensini
Diagnosis almost certain

Presentation

Seizures for two years. In use of oxcarbazepine. No microcephaly or macrocephaly physical examination.

Patient Data

Age: 6-year-old
Gender: Female

High signal intensity in the supratentorial white matter, in the corona radiata, semioval centers and mainly in subcortical temporal lobes, accompanied by symmetrical cysts in the temporal poles.

Case Discussion

The findings of this rare condition are bilateral temporal lobe cysts combined with a specific pattern of multifocal white matter lesions and normocephaly.

The differential diagnosis of cystic lesions of the temporal lobe are:

  • with microcephaly: congenital CMV infection
  • normocephaly: cystic leukoencephalopathy without megalencephaly, congenital muscular dystrophy merosin negative, Aicardi-Goutieres syndrome
  • with megalencephaly: megalencephalic leukoencephalopathy with subcortical cysts (also known as Van der Knaap disease).

other differential diagnoses to include:

  • leukoencephalopathy with vanishing white matter (Vanishing white matter disease)
  • childhood ataxia with central nervous system hypomyelination

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