Cerebral palsy laboratory findings: Difference between revisions

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**Organic and amino acids- serum and urine levels may be deranged in  inherited metabolic disorders
**Organic and amino acids- serum and urine levels may be deranged in  inherited metabolic disorders
**Ammonia levels- elevated in liver dysfunction or urea cycle defect
**Ammonia levels- elevated in liver dysfunction or urea cycle defect
**Chromosomal analysis  
**Chromosomal analysis:<ref name="pmid15037681">{{cite journal |vauthors=Ashwal S, Russman BS, Blasco PA, Miller G, Sandler A, Shevell M, Stevenson R |title=Practice parameter: diagnostic assessment of the child with cerebral palsy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society |journal=Neurology |volume=62 |issue=6 |pages=851–63 |year=2004 |pmid=15037681 |doi= |url=}}</ref>
***Karyotype analysis
***Karyotype analysis
***Specific DNA testing
***Specific DNA testing
**Elevated CSF protein levels
**Lumbar puncture:<ref name="pmid20063428">{{cite journal |vauthors=Pons R, Collins A, Rotstein M, Engelstad K, De Vivo DC |title=The spectrum of movement disorders in Glut-1 deficiency |journal=Mov. Disord. |volume=25 |issue=3 |pages=275–81 |year=2010 |pmid=20063428 |doi=10.1002/mds.22808 |url=}}</ref>
***Elevated CSF protein levels
***Low cerebrospinal fluid (CSF) glucose concentration (hypoglycorrhachia
**Diagnostic testing for coagulation disorders, if cerebral infarction is suspected
**Diagnostic testing for coagulation disorders, if cerebral infarction is suspected
***Screening for thrombophilia<ref name="pmid17875083">{{cite journal |vauthors=Senbil N, Yüksel D, Yilmaz D, Gürer YK |title=Prothrombotic risk factors in children with hemiplegic cerebral palsy |journal=Pediatr Int |volume=49 |issue=5 |pages=600–2 |year=2007 |pmid=17875083 |doi=10.1111/j.1442-200X.2007.02424.x |url=}}</ref><ref name="pmid18927445">{{cite journal |vauthors=Simchen MJ, Goldstein G, Lubetsky A, Strauss T, Schiff E, Kenet G |title=Factor v Leiden and antiphospholipid antibodies in either mothers or infants increase the risk for perinatal arterial ischemic stroke |journal=Stroke |volume=40 |issue=1 |pages=65–70 |year=2009 |pmid=18927445 |doi=10.1161/STROKEAHA.108.527283 |url=}}</ref>


==References==
==References==

Revision as of 10:15, 6 October 2017

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

Overview

An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].

OR

Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

OR

[Test] is usually normal among patients with [disease name].

OR

Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].

OR

There are no diagnostic laboratory findings associated with [disease name].

Laboratory Findings

  • There are no diagnostic laboratory findings associated with cerebral palsy
  • The American Academy of Neurology (AAN) recommends lab studies
    • If there is no specific structural abnormality present-
    • Presence of atypical features in history or physical examination
    • Cerebral palsy associated with brain malformation
  • Following labs may help to rule out other diseases
    • Thyroid function tests- to rule out muscle or movement disorders
    • Lactate and pyruvate levels- may show mitochondrial abnormalities
    • Organic and amino acids- serum and urine levels may be deranged in inherited metabolic disorders
    • Ammonia levels- elevated in liver dysfunction or urea cycle defect
    • Chromosomal analysis:[1]
      • Karyotype analysis
      • Specific DNA testing
    • Lumbar puncture:[2]
      • Elevated CSF protein levels
      • Low cerebrospinal fluid (CSF) glucose concentration (hypoglycorrhachia
    • Diagnostic testing for coagulation disorders, if cerebral infarction is suspected
      • Screening for thrombophilia[3][4]

References

  1. Ashwal S, Russman BS, Blasco PA, Miller G, Sandler A, Shevell M, Stevenson R (2004). "Practice parameter: diagnostic assessment of the child with cerebral palsy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society". Neurology. 62 (6): 851–63. PMID 15037681.
  2. Pons R, Collins A, Rotstein M, Engelstad K, De Vivo DC (2010). "The spectrum of movement disorders in Glut-1 deficiency". Mov. Disord. 25 (3): 275–81. doi:10.1002/mds.22808. PMID 20063428.
  3. Senbil N, Yüksel D, Yilmaz D, Gürer YK (2007). "Prothrombotic risk factors in children with hemiplegic cerebral palsy". Pediatr Int. 49 (5): 600–2. doi:10.1111/j.1442-200X.2007.02424.x. PMID 17875083.
  4. Simchen MJ, Goldstein G, Lubetsky A, Strauss T, Schiff E, Kenet G (2009). "Factor v Leiden and antiphospholipid antibodies in either mothers or infants increase the risk for perinatal arterial ischemic stroke". Stroke. 40 (1): 65–70. doi:10.1161/STROKEAHA.108.527283. PMID 18927445.

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