Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement

Abstract

Cerebellar abnormalities are encountered in a high number of neurological diseases that present in the neonatal period. These disorders can be categorized broadly as inherited (e.g. malformations, inborn errors of metabolism) or acquired (e.g. hemorrhages, infections, stroke). In some disorders such as Dandy-Walker malformation or Joubert syndrome, the main abnormalities are located within the cerebellum and brainstem. In other disorders such as Krabbe disease or sulfite oxidase deficiency, the main abnormalities are found within the supratentorial brain, but the cerebellar involvement may be helpful for diagnostic purposes. In In this article, we review neurological disorders with onset in the neonatal period and cerebellar involvement with a focus on how characterization of cerebellar involvement can facilitate accurate diagnosis and improved accuracy of neuro-functional prognosis.

Keywords: Cerebellum; Neonatal neurology; Neonate; Neuroimaging.

Fig. 1

a, Sagittal, b, Axial, and c, Coronal T2-weighted MR images of a 2-day-old term male newborn with Oral-Facial-Digital syndrome type VI (a phenotype of Joubert syndrome) show severe hypoplasia of the cerebellar vermis and both cerebellar hemispheres, the characteristic molar tooth sign including thickened and elongated superior cerebellar peduncles and a deepened interpeduncular fossa, and a hypothalamic hamartoma (arrows)(reprinted with permission from Poretti A et al., AJNR Am J Neuroradiol, 2008;29:1090–91). d, Sagittal, e, Axial, and f, Coronal T2-weighted MR images of a 5-day-old term male neonate with rhombencephalosynapsis reveal continuity of the cerebellar hemispheres, dentate nuclei, and superior cerebellar peduncles without a midline intervening vermis. On the sagittal image, no primary fissure is seen. In addition, dysplasia of the tectal plate, obstruction of the Sylvian aqueduct at the level of the inferior colliculi, and marked supratentorial hydrocephalus. Note that the dentate nucleus is visible on a midsagittal image, while in normal anatomy the vermis separates the dentate nuclei in the midline

Fig. 2

a-c, Axial T2-weighted MR images of a 20-day-old male term neonate with maple syrup urine disease show swelling and hyperintense signal of the cerebellar white matter, dorsal pons, corticospinal tracts along its course in the basis pontis, midbrain, and posterior limbs of the internal capsule, and thalami. d-f, Trace of diffusion images and g-i, Apparent diffusion coefficient (ADC) maps of the same newborn reveal bright DWI-signal and matching low ADC values, respectively, in the cerebellar white matter, dorsal pons, corticospinal tracts in the basis pontis, midbrain, and posterior limb of the internal capsule, and thalami representing restricted diffusion/cytotoxic edema compatible with extensive ongoing injury to the myelinated parts of the brain

Fig. 3

a-c, Axial T2-weighted MR images of a 5-day-old male term neonate with genetically confirmed Pelizaeus-Merzbacher disease presenting with marked muscular hypotonia, rotatory nystagmus, and inspiratory stridor show a homogeneous increased hyperintense signal of the supra- and infratentorial white matter including the corticospinal tracts within the posterior limb of the internal capsule bilaterally compatible with hypomyelination

Fig. 4

a, Ultrasonography image through the mastoid fontanel of a 14-day-old neonate born at 26 weeks of gestation show a cerebellar hemorrhage (arrows). b, Coronal T2-weighted image at 2 months of life reveals encephalomalacic changes within the right cerebellar hemisphere with T2-hypointense foci representing deposition of blood products. c, Sagittal T1- and d, Coronal T2-weighted MR images of a 3-year-old boy born at 25 weeks gestation reveal a small posterior fossa, marked reduction in the size of the cerebellar hemispheres, which have a skeletonized appearance and appear more affected compared to the small vermis. Together with the pontine hypoplasia, constellation of findings suggest disruption of the cerebellar development as a sequela of prematurity. In addition, a T2-hypointense signal is noted in the left cerebellar folia suggesting hemosiderin deposition due to remote hemorrhage. Finally, a thinned corpus callosum and encephalomalacic changes in the supratentorial brain are also seen

Fig. 5

a, Axial computed tomography (CT) image of a 2-day-old male neonate with confirmed congenital cytomegalovirus infection shows ventriculomegaly, cerebellar hypoplasia, and periventricular hyperdense calcifications. b, Axial and c, Coronal T2-weighted MR images of the same child at the age of 14 months reveal cerebellar hypoplasia, ventriculomegaly, hyperintense signal of the periventricular white matter, hypointense periventricular calcifications, and diffuse polymicrogyria and pachygyria (reprinted with permission form Poretti A et al., Eur J Paediatr Neurol, 2009;13:397–407)