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Brief ReportBrief Report

Consider Muscle Disease in Children with Elevated Transaminase

Melissa A. Wright, Michele L. Yang, Julie A. Parsons, John M. Westfall and Audrey S. Yee
The Journal of the American Board of Family Medicine July 2012, 25 (4) 536-540; DOI: https://doi.org/10.3122/jabfm.2012.04.110183
Melissa A. Wright
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Michele L. Yang
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Julie A. Parsons
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John M. Westfall
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Audrey S. Yee
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    Table 1. Patient Characteristics at Presentation and Follow-up
    Age, yearsALT, IU/LAST, IU/LReason for Metabolic PanelSymptomsInitial CK, IU/LMuscle and Neurologic Symptoms at PresentationMuscle and Neurologic Symptoms at Follow-upFinal Diagnosis
    227350TonsillitisNone4,867Calf hypertrophyN/ADMD/BMD
    Exon 45–47 deletion
    <1341451Failure to thriveFailure to thrive19,874Calf hypertrophyWide-based gait, decreased reflexesDMD/BMD
    Shoulder weaknessExon 3–44 deletion
    <1246497Splenomegaly seen during routine physicalNone12,587HyperextensibilityN/ADMD/BMD
    Head lagExon 3–29 deletion
    6477324Poor growthDark urine12,121NoneToe walkingUndiagnosed
    5>50>40GastroenteritisShort stature14,752Calf hypertrophyWeaknessDMD
    Gower signExon 49–54 deletion
    1114094Abdominal painAbdominal pain5,833HeadachesHeadachesBMD
    Exon 45–47 deletion
    1118196Feeding intolerance, failure to thriveFailure to thrive, feeding intolerance17,919Developmental delayHearing lossDMD/BMD
    Hypotonia, head lag, speech delaySleep apnea, head lag, Gower signExon 8–11 deletion
    3497318Upper respiratory tract infectionNone22,009Weakness,Calf hypertrophy, weaknessDMD
    Decreased reflexes, hypotonia, Gower signExon 20–25 deletion
    2300–400300–400Prolonged diarrheaChronic constipation, anemia12,000Calf hypertrophyFatigue, hypotonia, calf hypertrophy, Gower's signBMD/DMD
    WeaknessExon 48–52 deletion
    4186235Leg pain, failure to thriveFailure to thrive, abdominal pain, dark urine9,932Decreased mobility, limpFatigue, muscle crampingDystroglycanopathy
    29980Urinary tract infection917NoneHyperextensibilityDMD/BMD carrier
    Heterozygous for exon 48–50 deletion
    16195147UnknownNone12,131NoneNoneUndiagnosed
    • Reference ranges: ALT, 0–50; AST, 0–40; γ-glutamyl transpeptidase, 5–55.

    • ALT, alanine aminotransferase; AST, aspartate aminotransferase; BMD, Becker muscular dystrophy; CK, creatinine kinase; DMD, Duchenne muscular dystrophy; IU/L, international units per liter.

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    Table 2. Clinical Evaluation for Elevated AST/ALT and Time to Diagnosis of Muscle Disease
    Liver ImagingLiver BiopsyTime to CK Measurement (months)Time to Neurology Consultation (months)Time to Diagnosis (months)
    USNo3.51617
    USNo0.531
    USNo244
    NoneNo22Undiagnosed
    USNo123
    MRI, MRCP, HIDALaparoscopic biopsy9911
    NoneNo0.7512.5
    USNeedle biopsy141415
    MRI, MRVNeedle biopsy151618
    USLaparoscopic biopsy242531
    USNo45.54
    USNo810Undiagnosed
    N/AN/A7.0 (average)9.0 (average)10.7 (average)
    • AST/ALT, aspartate aminotransferase/alanine aminotransferase; HIDA, Hepatobiliary Iminodiacetic acid scan; MRCP, magnetic resonance cholangiopancreatography; MRI, magnetic resonance imaging; MRV, magnetic resonance venography; US, ultrasound.

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The Journal of the American Board of Family     Medicine: 25 (4)
The Journal of the American Board of Family Medicine
Vol. 25, Issue 4
July-August 2012
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Consider Muscle Disease in Children with Elevated Transaminase
Melissa A. Wright, Michele L. Yang, Julie A. Parsons, John M. Westfall, Audrey S. Yee
The Journal of the American Board of Family Medicine Jul 2012, 25 (4) 536-540; DOI: 10.3122/jabfm.2012.04.110183

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Consider Muscle Disease in Children with Elevated Transaminase
Melissa A. Wright, Michele L. Yang, Julie A. Parsons, John M. Westfall, Audrey S. Yee
The Journal of the American Board of Family Medicine Jul 2012, 25 (4) 536-540; DOI: 10.3122/jabfm.2012.04.110183
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