In 25/29 cases, brain magnetic resonance imaging (MRI) showed signs of periventricular leukopathy; in one case, frontotemporal cortical atrophy was observed, which can also be seen in LAMA2-associated MD patients [2]; in one case, a congenital CNS anomaly, Dandy–Walker malformation, was detected along with leukomalacia in the cerebral hemispheres and asymmetric occlusive hydrocephalus; in one case, a congenital brain malformation was observed; and in one case, ventriculomegaly was observed. The gene discussed is LAMA2; the disease is Menkes disease.