Cerebral palsy differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Iqra Qamar M.D.[2]

Overview

Cerebral palsy must be differentiated from other diseases that cause spasticity, hypotonia, ataxia, and dystonia such as inherited metabolic disorders, intellectual disability, metabolic myopathies, metabolic neuropathy, traumatic peripheral nerve lesions, tumors of the conus and cauda equina and vascular malformations of the spinal cord.

Differentiating Cerebral Palsy from other Diseases

Preferred Table

Diseases Type of motor abnormality Clinical findings Laboratory findings and diagnostic tests Radiographic findings
Spasticity Hypotonia Ataxia Dystonia
Leigh syndrome - - + +
Niemann-Pick disease type C - - + +
  • Abnormal liver function tests
  • Fibroblast cell culture with filipin staining
Infantile Refsum disease - + + - Elevated plasma VLCFA levels --
Adrenoleukodystrophy + - - -
  • Elevated plasma VLCFA levels
  • Molecular genetic testing for mutations in the ABCD1 gene
--
Zellweger syndrome - + - - --
Pyruvate dehydrogenase deficiency + + + -
  • Elevated lactate and pyruvate levels in blood and CSF
  • Abnormal PDH enzymatic activity in cultured fibroblasts
--
Arginase deficiency + - - - --
Holocarboxylase synthetase deficiency - + - - Elevated levels of:
  • Beta-hydroxyisovalerate
  • Beta-methylcrotonylglycine
  • Beta-hydroxypropionate
  • Methylcitrate
  • Tiglylglycine
--
Glutaric aciduria type 1 - - - + Elevated levels of:
Ataxia telangiectasia - - + - --
Pontocerebellar hypoplasias - + - - Genetic testing for PCH gene mutations
Metachromatic leukodystrophy - + + -
  • Deficient arylsulfatase A enzyme activity in leukocytes or cultured skin fibroblasts
--
Pelizaeus-Merzbacher + - + -
Angelman syndrome - - + -
  • Methylation studies and chromosome microarray to detect chromosome 15 anomalies and UBE3A mutations
--
Rett syndrome + - - +
  • Occurs almost exclusively in females
  • Normal development during first six months followed by regression and loss of milestones
  • Loss of speech capability
  • Stereotypic hand movements
  • Seizures
  • Autistic features
  • Clinical diagnosis
  • Genetic testing for MECP2 mutations
--
Lesch-Nyhan syndrome + - - + --
Miller-Dieker lissencephaly + + - -
  • Cytogenetic testing for 17p13.3 microdeletion
--
Dopa-responsive dystonia + - - +
  • Onset in early childhood
  • Symptoms worsen with fatigue and exercise
  • Positive response to a trial of levodopa
--

References

  1. Cooper J, Majnemer A, Rosenblatt B, Birnbaum R (1995). "The determination of sensory deficits in children with hemiplegic cerebral palsy". J. Child Neurol. 10 (4): 300–9. doi:10.1177/088307389501000412. PMID 7594266.
  2. Himmelmann K, Beckung E, Hagberg G, Uvebrant P (2006). "Gross and fine motor function and accompanying impairments in cerebral palsy". Dev Med Child Neurol. 48 (6): 417–23. doi:10.1017/S0012162206000922. PMID 16700930.
  3. Odding E, Roebroeck ME, Stam HJ (2006). "The epidemiology of cerebral palsy: incidence, impairments and risk factors". Disabil Rehabil. 28 (4): 183–91. doi:10.1080/09638280500158422. PMID 16467053.
  4. Burns YR, O'Callaghan M, Tudehope DI (1989). "Early identification of cerebral palsy in high risk infants". Aust Paediatr J. 25 (4): 215–9. PMID 2590117.
  5. Gupta R, Appleton RE (2001). "Cerebral palsy: not always what it seems". Arch. Dis. Child. 85 (5): 356–60. PMC 1718969. PMID 11668092.

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