Handbook of Pediatric Electroencephalography by Veena Kander now on ICNApedia VLE

CNS degenerative disorders of childhood

CNS degenerative disorders of childhood

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DiseaseEnzyme Defect and GeneticsOnsetEarly ManifestationsVision and HearingMotor SystemSeizuresLaboratory and Tissue StudiesCourse
Adrenoleukodystrophy and variants (peroxisomal disease)

X-linked Xq28 Neonatal form: AR

Acyl-CoA synthetase

5–10 y

May also present as newborn, adolescent, or adult

Impaired intellect

Behavioral problems

Cortical blindness Deafness

Ataxia

Spasticity

Motor deficits

Adults: Adrenomyeloneuropathy

Occasionally

Hyperpigmentation and adrenocortical insufficiency ACTH elevated

Very-long-chain fatty acids in plasma

Variable course, many mildly involved. Severe variant with death in 2–5 y.
Neuronal ceroid lipofuscinosis (NCL; cerebromacular degeneration); infantile NCL (INCL); late infantile (LINCL); juvenile NCL (JNCL; Batten disease)

AR

Multiple gene mutations

INCL: 6–24 mo

LINCL: 2–4 y

JNCL: 4–8 y

Ataxia

Visual difficulties

Arrested intellectual development

Seizures

Pigmentary degeneration of macula

Optic atrophy

Ataxia

Spasticity progressing to decerebrate rigidity

Myoclonus

Generalized

Refractory

Vacuolated lymphocytes. Biopsy, EM of skin, conjunctiva; WBC: "curvilinear bodies, fingerprint profiles." Molecular testing of CLN1, CLN2, CLN3 genes. Protein gene product testing for CLN1 and CLN2.

Moderately slow

Death in 3–8 y

Subacute sclerosing panencephalitis (Dawson disease) None: measles infection. Also reported as result of rubella. 3–22 y

Impaired intellect

Emotional lability

Incoordination

Chorioretinitis

Optic atrophy

Ataxia

Dysarthria

Involuntary movements

Spasticity progressing to decerebrate rigidity

Myoclonic

Akinetic

Focal and generalized

CSF protein normal to moderately elevated. High CSF IgG,b oligoclonal bands. Elevated CSF and serum measles antibody titers. Characteristic EEG.

Variable: death in months to years

Remissions occasional

Treatment: INF-α

Megalencephalic leukodystrophy with subcortical cysts (MLC) MLC1 gene defect chr 22q Infancy Acquired macrocephaly  

Ataxia

Spasticity

Dystonia

Varied Characteristic MRI dysmyelination Slowly progressive to adulthood; wheelchair bound by teens
Vanishing white matter/childhood ataxia with CNS hypomyelination

AR

Chr 3q27

Infancy-fatal Variants: slower Episodic deterioration with fever, head trauma, and fear.  

Ataxia

Spasticity

Varied MRI: dramatic disappearance of white matter.

Infantile: fatal

Variants are slowly progressive

Adult variant (autosomal dominant) with ovarian dysgenesis

Alexander disease

AD

GFAP gene

Infancy Macrocephaly  

Ataxia

Spasticity

  Demyelination; rosenthal fibers characteristic of biopsy. Fatal infantile. Juvenile: bulbar signs, less retardation
Cerebrotendinous xanthomatosis

AR

Abnormal accumulation of cholesterol

Late childhood to adolescence

Xanthomas

Mental deterioration

Cataracts

Xanthelasma

Cerebellar defects

Bulbar paralysis

Myoclonus Xanthomas in lungs and tendons Slowly progressive into middle life. Replace deficient bile acid
Huntington disease

AD

CAG repeat

10% childhood onset

Hypokinetic

Dystonia

Rigidity

Dementia

Ophthalmoplegia

Rigidity

Chorea frequently absent in children

50% motor seizures CT scan: "butterfly" atrophy of caudate and putamen Moderately rapid with death
Refsum disease (peroxisomal disease)

AR

Phytanic acid oxidase deficiency

5–10 y

Ataxia

Ichthyosis

Cardiomyopathy

Retinitis pigmentosa

Nystagmus

Ataxia

Neuropathy

Areflexia

None

Phytanic acid elevated

Slow nerve conduction velocity

Elevated CSF protein

Treat with low phytanic acid diet

ACTH, adrenocorticotropic hormone; AD, autosomal dominant; AR, autosomal recessive; CHR, chromosome; CLN, ceroid lipofuscinosis; CNS, central nervous system; CSF, cerebrospinal fluid; CT, computed tomography; EEG, electroencephalogram; EM, electron microscopy; ERG, electroretinogram; IFN-α, interferon-α; MRI, magnetic resonance imaging; VER, visual evoked response; WBC, white blood cell.

bCSF γ-globulin (IgG) is considered elevated in children when IgG is > 9% of total protein (possibly even > 8.3%); definitively elevated when > 14%.

http://icnapedia.org/wiki/neurolists/cns-degenerative-disorders-of-childhood
APA Style
CNS degenerative disorders of childhood. (n.d.). In ICNApedia. Retrieved May 22,2017 16:19:26 from http://icnapedia.org/wiki/neurolists/cns-degenerative-disorders-of-childhood
MLA Style
"CNS degenerative disorders of childhood." ICNApedia: The Child Neurology Knowledge Environment, Inc. April 17, 2017. Web. May 22,2017 16:19:26
AMA Style
ICNApedia contributors. CNS degenerative disorders of childhood. ICNApedia, The Child Neurology Knowledge Environment. April 17, 2017. Available at: http://icnapedia.org/wiki/neurolists/cns-degenerative-disorders-of-childhood.Accessed May 22,2017 16:19:26.

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