Table 3.

Neuroimaging findings that may facilitate the diagnosis of neonatal disorders with cerebellar involvement

Neuroimaging finding		Diseases
Calcifications		AGS, CMV, CS
Callosal agenesis/dysgenesis		CII, CMD, NKH, SLO
Cerebellar atrophy (global)		AGS, CDG, CNCL, CS
Cerebellar cysts		CMD, PCH1/2/6
Cerebellar hemispheres	Atrophy	Preterm disruption, PCH
	Dysplasia	CMD
	Hypoplasia	DWM, PCH
Cerebral atrophy		AGS, CNCL, CS
Dentate nuclei T2-hyperintense signal		Krabbe
Global cerebellar hypoplasia		BD, CDG, CMV, NKH, SOD, SLO
Global cerebral edema		SOD, HII
Malformation of cortical development		CMD, CMV, JS
Molar tooth sign		JS
Pontine hypoplasia		CII, CDG, CMD, preterm disruption, JS, PCH, PTCD
Posterior fossa	Small	CII
	Enlarged	DWM
Tectal abnormality		CII, CMD, JS, RES
Vermis	Agenesis	RES, Teratogens
	Atrophy	Preterm disruption, PCH
	Dysplasia	CMD, JS
	Hypoplasia	DWM, JS, PCH, PTCD
Ventriculomegaly		Cerebellar hemorrhage, CII, CMD, CMV, DWM, RES, SLO, sinovenous thrombosis, tumor
White matter signal abnormality	Cerebellar	AGS, CS, Krabbe, MSUD, NKH, PDH, PMD
	Cerebral	AGS, CMV, CMD, CS, Krabbe, MSUDa, NKHa, PMD

^aonly myelinated white matter tracts, AGS Aicardi-Goutières syndrome, BD brainstem disconnection, CDG congenital disorders of glycosylation, CII, Chiari type II malformation, CMD congenital muscular dystrophy, CMV cytomegalovirus infection, CNCL congenital neuronal ceroid lipofuscinosis, CS Cockayne syndrome, DWM Dandy-Walker malformation, HII hypoxic-ischemic injury, HSV herpes simpex infection, JS Joubert syndrome, MSUD maple syrup urine disease, NKH nonketotic hyperglycinemia, PCH pontocerebellar hypoplasia, PDH pyruvate dehydrogenase deficiency, PMD Pelizaeus-Merzbacher disease, PTCD pontine tegmental cap dysplasia, RES rhombencephalosynapsis, SLO Smith-Lemli-Opitz syndrome, SOD sulfite oxidase deficiency