The added value of brain MR spectroscopy in children with Crigler-Najjar syndrome Type-I: Correlation with demographic, neurodevelopmental, and laboratory findings.

OBJECTIVES: The aim of this study is to demonstrate the role of proton magnetic resonance spectroscopy (1H-MRS) in the detection of brain microstructural changes in patients with Crigler-Najjar Syndrome type-I (CNs-I), and its correlation with demographic, neurodevelopmental and laboratory findings.

METHODS: Prospective study was conducted on 25 children with CNs-I and 25 age and sex-matched children, who served as control. They underwent multivoxel 1H-MRS of basal ganglion at TE 135-144 ms. NAA/Cr and Ch/Cr were calculated and correlated with demographic, clinical, and laboratory findings of patients with CNs-I.

RESULTS: There was a significant difference in NAA/Cr and Ch/Cr between patients and controls. The cut-off value for NAA/Cr and Ch/Cr used to differentiate patients from controls were 1.8 and 1.2 with an area under the curve (AUC) of 0.91 and 0.84 respectively. There was a significant difference in MRS ratios between patients with neurodevelopmental delay (NDD) and patients without NDD. The cut-off values for NAA/Cr and Ch/Cr used to differentiate between patients with NDD and patients without NDD were 1.47 and 0.99, with AUC of 0.87 and 0.8 respectively. The NAA/Cr and Ch/Cr were well correlated with family history ( p = 0.006 and p < 0.001) respectively, consanguinity ( p < 0.001 and p = 0.001), neurodevelopmental delay ( p = 0.001 and p = 0.004), serum bilirubin level ( r = -0.77, p < 0.001), ( r = -0.49, p = 0.014), phototherapy ( p < 0.001 and p = 0.32), blood transfusion ( p < 0.001 and p = 0.001) respectively.

CONCLUSIONS: 1H-MRS can be a useful tool in the detection of neurological changes in patients with CNs-I; NAA/Cr and Ch/Cr parameters are well correlated with demographic, clinical, and laboratory findings.

ADVANCES IN KNOWLEDGE: our study is the first report on using MRS in assessing neurological manifestations in CNs. 1H-MRS can be a useful tool in the detection of neurological changes in patients with CNs-I.