Kandarpa Harshita, Reddy Mayuri, Gianneschi Garrett, Fofah Onajovwe
Neurology, Division of Child Neurology, Rutgers New Jersey Medical School, Newark, New Jersey, USA.
Rutgers New Jersey Medical School, Newark, New Jersey, USA.
BMJ Case Rep. 2025 Jan 21;18(1):e263666. doi: 10.1136/bcr-2024-263666.
This case report presents a late preterm infant diagnosed with severe cerebellar hypoplasia and microcephaly secondary to congenital cytomegalovirus (cCMV) infection. Initially suspected to have Dandy-Walker malformation, postnatal MRI revealed significant cerebellar hypoplasia, without other typical cCMV findings. The diagnosis was confirmed by the presence of CMV in serum and urine. The patient was started on valganciclovir for 6 months, and despite the significant cerebellar hypoplasia, the clinical course was benign, with normal respiratory and feeding functions. Physical examination showed microcephaly, hypotonia and partial bilateral hearing loss. Follow-up showed persistent hypotonia but normal developmental progression otherwise. This case is notable for isolated cerebellar hypoplasia without other common cCMV-related radiological abnormalities, highlighting the need for further exploration into the atypical presentations of cCMV.
本病例报告介绍了一名晚期早产儿，诊断为先天性巨细胞病毒（cCMV）感染继发的严重小脑发育不全和小头畸形。最初怀疑患有丹迪-沃克畸形，产后MRI显示小脑明显发育不全，无其他典型的cCMV表现。血清和尿液中CMV的存在证实了诊断。患者开始服用缬更昔洛韦6个月，尽管小脑发育不全严重，但临床过程平稳，呼吸和喂养功能正常。体格检查显示小头畸形、肌张力低下和部分双侧听力丧失。随访显示肌张力持续低下，但其他方面发育进程正常。该病例的显著特点是孤立性小脑发育不全，无其他常见的与cCMV相关的放射学异常，突出了对cCMV非典型表现进行进一步探索的必要性。
