Severe infantile male encephalopathy is a result of early post-zygotic WDR45 somatic mutation.

The article describes the case of a male patient who presented with severe early infantile encephalopathy resulting from early post-zygotic WDR45 somatic mutation. Topics discussed include brief clinical description of the patient, the confirmation of the mutation by Sanger sequencing, the analysis of the mutation in the patient's lymphocytes by microfluidic digital polymerase chain reaction (PCR) array technique, and the recommended treatment approach for WDR45 male patients.