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

Klein, Jessica L.; Lemmon, Monica E.; Northington, Frances J.; Boltshauser, Eugen; Huisman, Thierry A. G. M.; Poretti, Andrea

doi:10.1186/s40673-016-0039-1

Cerebellum & Ataxias

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
	Spinocerebellar ataxias	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
	Infection	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
	Tumors	Medulloblastoma	Histology

CMV cytomegalovirus, CSF cerebrospinal fluid, DNA deoxyribonucleic acid, MRI magnetic resonance imaging, PCR polymerase chain reaction

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ISSN: 2053-8871

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