Diagnosis of an intermediate case of maple syrup urine disease: A case report

Figure 1 The pedigree and brain magnetic resonance imaging of the proband. A: The pedigree at diagnosis; B: The pedigree at last visit. The arrow indicates the proband. Filled symbol represents the patient, while half-filled symbol represents carrier; C-F: Brain magnetic resonance imaging (T2-weighted-FLAIR). Abnormal signal in the right frontal lobe, and increased symmetrical signals in the basal ganglia are present at 1 year and 3 mo of age (C) and 1 year and 7 mo of age (D), but not seen at 3 years and 5 mo of age (E) and 5 years of age (F). The yellow arrows indicate brain lesions.