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Table 1 Neonatal neurology diseases with clinical or neuroimaging cerebellar involvement

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

Group of diseases Diseases Diagnostic test
Inherited Malformation Dandy-Walker malformation Brain MRI findings
Joubert syndrome Brain MRI findings
Rhombencephalosynapsis Brain MRI findings
Pontocerebellar hypoplasias Brain MRI findings, genetic analysis
Congenital muscular dystrophy due to α-dystroglycanopathy Muscle biopsy, genetic analysis
Brainstem disconnection Brain MRI findings
Pontine tegmental cap dysplasia Brain MRI findings
Chiari type II malformation Brain MRI findings
Neurometabolic Congenital disorders of glycosylation Transferrin electrophoresis, genetic analysis
Smith-Lemli-Opitz syndrome Elevated 7-dehydrocholesterol, genetic analysis
Non-ketotic hyperglycinemia Elevated CSF glycine concentration and CSF-to-plasma glycine ratio, genetic analysis
Maple syrup urine disease Elevated branched-chain amino acids and branched-chain keto-acids in blood and urine
Pyruvate dehydrogenase deficiency Abnormal enzyme function, genetic analysis
Sulfite oxidase deficiency Elevated sulfite, thiosulfate, taurine, and S-sulfocysteine concentrations in urine, genetic analysis
Neurodegenerative Krabbe disease Low galactocerebrosidase activity in peripheral leukocytes, genetic analysis
Cockayne syndrome Genetic analysis
Pelizaeus-Merzbacher disease Genetic analysis
Aicardi-Goutières syndrome Genetic analysis
Congenital neuronal ceroid lipofuscinosis Genetic analysis
Spinocerebellar ataxias SCA type 2 Genetic analysis
SCA type 7 Genetic analysis
Acquired Vascular Cerebellar hemorrhage Brain MRI findings
Sinovenous thrombosis Brain MRI findings
cerebellar ischemic stroke Brain MRI findings
Disrupted development of the cerebellum in preterms History of prematurity, brain MRI findings
Hypoxic-ischemic injury Brain MRI findings
Infection Congenital cytomegalovirus Viral culture, PCR, or serology within the first weeks of life, later PCR for CMV DNA in dried blood of neonatal screening
Herpes simplex CSF viral culture or PCR
Toxic Glucocorticoids Brain MRI findings, history of glucocorticoids therapy
Teratogens Alcohol History, brain MRI findings
Retinoic acid History, brain MRI findings
Misoprostol History, brain MRI findings
Tumors Teratoma Histology
  Medulloblastoma Histology
  1. CMV cytomegalovirus, CSF cerebrospinal fluid, DNA deoxyribonucleic acid, MRI magnetic resonance imaging, PCR polymerase chain reaction
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Cerebellum & Ataxias

ISSN: 2053-8871