A full-term male neonate born of a non-consanguineous marriage presented to us on the first day of life with large head (figure 1) and generalised hypotonia. He had microphthalmia and white reflex in pupillary areas. There was a family history of three neonatal deaths, the parents did not recall any of these babies having had large head. Figure 1 Large head. His creatine kinase (CK) level was very high …