Fig. 1From: Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case reportClinical features of individuals homozygous for L2HGDH c.178G > A. Patient VI:4 at 16 years of age, showed diffuse T2 hyperintense signals abnormality in the subcortical white matter (a), bilateral symmetrical T2 hyperintense signals in bilateral basal ganglia (b) and cerebellar atrophy (c) and epileptiform changes in EEG (d)Back to article page