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

From: Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases 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
  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
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Cerebellum & Ataxias

ISSN: 2053-8871