Das Pseudo-TORCH-Syndrom 1 ist eine schwere autoinflammatorische Erkrankung, die durch autosomal rezessive Mutationen im OCLN-Gen hervorgerufen wird. Die Erkrankung beginn meist antenatal und führt im Kleinkindesalter zum Tode. Zu den Symptomen gehören intrakranielle Blutungen, Kalzifikationen, Hirnfehlbildungen, Leberfunktionsstörungen und oft auch eine Thrombozytopenie.
Die Prävalenz aller Pseudo-TORCH-Syndrome liegt unter 1:1.000.000.
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