Imaging analysis of holoprosencephaly in children / 中华放射学杂志

ABSTRACT

Objective To improve the diagnostic level of the holoprosencephaly (HPE) disease in children by imaging analysis. Methods From May 2007 to August 2015, 14 cases of HPE in children were collected (7 males and 7 females, aged 2 days to 8 years, mean 14 months). Two cases were showed as sucking difficulty and convulsions frequently after birth. Mental and motor development defects were showed in 12 cases, in which 4 cases were associated with cleft lip and palate deformities and 1 case with microcephaly. Of the 14 cases, CT scan was performed in 7 cases and MRI scan in 7 cases. Results All 14 cases were consistent with the diagnostic criteria of HPE according to the imaging findings of literatures reviewed. Four cases were showed as semilobar HPE, 8 cases were lober HPE, and 2 cases were middle interhemispheric fusion variant. There were thirteen cases were associated with corpus callosum agenesis, including 2 cases were with heterotopic gray matter. Putamen and caudate partia fusion were showed in 6 cases, and thalamus partia fusion in 3 cases. One case was associated with schizencephaly, 4 cases were palate malformation, one case was microcephaly, and one case was cerebellar hypoplasia. Conclusion CT and MRI scan could contribute to diagnosis and classification of holoprosencephaly, and determine whether HPE was associated with other neurological abnormalities. MRI scan should be the first choice for HPE diagnosis.