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Open Access

Metabolic and genetic disorders mimicking cerebral palsy

Wejdan S. Hakami, Khaled J. Hundallah and Brahim M. Tabarki
Neurosciences Journal July 2019, 24 (3) 155-163; DOI: https://doi.org/10.17712/nsj.2019.3.20190045

Article Figures & Data

Figures

  • Figure 1
    Figure 1

    Axial T2-weighted brain magnetic resonance image of a 5-year-old child with Pelizaeus-Merzbacher disease shows bilateral symmetrical hyperintensity of the deep, periventricular and subcortical white matter including the posterior limbs of the internal capsules.

  • Figure 2
    Figure 2

    Axial T2-weighted brain magnetic resonance image of a 9-months-old child with glutaric aciduria type1 shows subacute right frontoparietotemporal subdural hematoma with mass effect, diffuse brain atrophy with widening of sylvian fissures bilaterally and secondary ventriculomegaly and increased signal intensity of basal ganglia bilaterally.

  • Figure 3
    Figure 3

    Axial T2-weighted brain magnetic resonance image of a 2-year-old child with molybdenum cofactor deficiency shows extensive brain damage, signifiant loss of white matter with cystic changes, ex vacuo dilatation of ventricles and mushrom-shaped gyri.

  • Figure 4
    Figure 4

    Axial T1-weighted brain magnetic resonance image of a 1-year-old child with Joubert syndrome shows the classical molar tooth sign.

  • Figure 5
    Figure 5

    Axial T2-weighted brain magnetic resonance images of a 2-year-old child with mitochondrial leukoencephalopathy, caused by ISCA2 gene mutation shows leukodystrophy with supra and infra tentorial predominantly deep white matter involvement and central areas of cavitation (arrows).

Tables

  • Table 1

    Red flags in the history and examination that should prompt the consideration of another diagnosis

    History
     No risk factors for CP such as: prematurity, low birthweight, multiple births, hypoglycemia, jaundice and kernicterus, intrapartum asphyxia, intracranial hemorrhage, infection, stroke, or head injuries
     Positive family history of CP
     Fluctuation in motor symptoms
     Paroxysmal symptoms in relation to time of day, diet/fasting, or activity
     Progressive neurological symptoms
     Regression of milestones
    Examination
     Dysmorphic features
     Isolated motor dysfunction such as isolated ataxia or isolated hypotonia without dystonia or spasticity
     Peripheral nervous system abnormalities: absent reflexes, sensory signs
     Eye movement abnormalities (e.g., oculogyria, oculomotor apraxia, or paroxysmal saccadic eye-head movements)
     Optic atrophy/retinopathy

    • CP- cerebral palsy

  • Table 2

    Red flags in the MRI brain findings that should prompt consideration of another diagnosis.

    Normal neuroimaging
    Nonspecific abnormalities, such as isolated globus pallidus involvement, which can suggest methylmalonic aciduria
    Imaging may demonstrate specific lesions that are inconsistent with perinatal brain injury, but characteristic of a particular genetic disorder, such as leukodystrophies, features of glutaric aciduria type 1, or features of Joubert syndrome
  • Table 3

    Common metabolic and genetic disorders that mimic CP according to the prominent motor dysfunction.

    Disorders with prominent spasticityDisorders with prominent dyskinesiaDisorders with prominent ataxia
    -  Hereditary spastic paraglegias
    -  Arginase deficiency
    -  COL4A1-Related spastic CP
    -  Biotinidase deficiency
    -  Aicardi-Goutières syndrome
    -  Sulfite oxidase deficiency/Molybdenum cofactor deficiency22
    -  Leukodystrophies, such as metachromatic leukodystrophy,23 adrenoleukodystrophy,24 Sjorgen Larsson syndrome25    		-  Dopa-responsive dystonia
    -  Sepiapterin reductase deficiency
    -  Glutaric aciduria type 1
    -  Glucose transporter deficiency type 1
    -  Neurodegeneration with brain iron accumulation
    -  Cerebral creatine deficiency syndrome
    -  Lesch Nyhan syndrome
    -  Cerebral folate deficiency
    -  ADCY5-related dyskinesia
    -  PCDH12-related dyskinesia34
    -  NKX2-1 related ataxic dyskinetic CP35
    -  TSEN54 Gene-related pontocerebellar hypoplasia type 236    		-  Glucose transporter deficiency type 1
    -  Ataxia telangiectasia
    -  Pelizaeus-Merzbacher disease
    -  Hereditary ataxias
    -  Joubert syndrome
    -  Mitochondrial cytopathies (mainly 8993 mutation)42
    -  Pontocerebellar hypoplasia36
    -  Cockayne syndrome43
    -  Niemann-Pick disease type C44
    -  Angelman syndrome12
    -  Gangliosidosis type 1, juvenile and adult forms45
    -  Non-ketotic hyperglycinemia3
    -  Maple syrup urine disease3
    -  NKX2-1 related ataxic dyskinetic CP35

    • CP- cerebral palsy

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