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

Table 2 Neonatal symptoms and clinical findings that may facilitate the diagnosis of neonatal disorders with cerebellar involvement

Symptom/clinical finding	Diseases
Alopecia	RES
Breathing abnormalities	BD, CII, cerebellar hemorrhage, CNCL, JS, NKH, PCH 1/4, PDH
Contractures	CMD, CS, PCH 4
Corneal insensitivity	PTCD, RES
Dysmorphic features	CDG, CS, JS, RES, SLO, SOD
Dysphagia	BD, CII, CMD, PCH 1/2/6, PTCD
Dystonia	MSUD, PCH 2
Eye involvement (cataract, coloboma, retinitis, …)	CMD, CMV, CNCL, CS, JS
Facial palsy	BD, PTCD
Head titubation	JS
Hyporeflexia	CDG, PCH 1
Irritability	Cerebellar hemorrhage, Krabbe, sinovenous thrombosis
Kidney involvement	JS, SLO
Macrocephaly	Cerebellar hemorrhage, CII, DWM, RES, sinovenous thrombosis, tumor
Microcephaly	CMV, CNCL, PCH (mainly type 6), PDH, SLO
Nystagmus	PMD
Ophthalmoplegia	MSUD
Polydactyly	JS
Ptosis	SLO
Seizures	BD, cerebellar hemorrhage and stroke, CMD, CMV, CNCL, HII, HSV, MSUD, NKH, preterm disruption, PCH 6, PDH, SOD
Skeletal abnormalities	BD, PTCD, SLO
Stridor	CII, PMD
Unstable body temperature	BD
Weakness	CMD, PCH 1

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

ISSN: 2053-8871