Consider Muscle Disease in Children with Elevated Transaminase

Melissa A. Wright; Michele L. Yang; Julie A. Parsons; John M. Westfall; Audrey S. Yee

doi:10.3122/jabfm.2012.04.110183

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Table 1. Patient Characteristics at Presentation and Follow-up

Age, years	ALT, IU/L	AST, IU/L	Reason for Metabolic Panel	Symptoms	Initial CK, IU/L	Muscle and Neurologic Symptoms at Presentation	Muscle and Neurologic Symptoms at Follow-up	Final Diagnosis
2	273	50	Tonsillitis	None	4,867	Calf hypertrophy	N/A	DMD/BMD
								Exon 45–47 deletion
<1	341	451	Failure to thrive	Failure to thrive	19,874	Calf hypertrophy	Wide-based gait, decreased reflexes	DMD/BMD
						Shoulder weakness		Exon 3–44 deletion
<1	246	497	Splenomegaly seen during routine physical	None	12,587	Hyperextensibility	N/A	DMD/BMD
						Head lag		Exon 3–29 deletion
6	477	324	Poor growth	Dark urine	12,121	None	Toe walking	Undiagnosed
5	>50	>40	Gastroenteritis	Short stature	14,752	Calf hypertrophy	Weakness	DMD
							Gower sign	Exon 49–54 deletion
11	140	94	Abdominal pain	Abdominal pain	5,833	Headaches	Headaches	BMD
								Exon 45–47 deletion
1	118	196	Feeding intolerance, failure to thrive	Failure to thrive, feeding intolerance	17,919	Developmental delay	Hearing loss	DMD/BMD
						Hypotonia, head lag, speech delay	Sleep apnea, head lag, Gower sign	Exon 8–11 deletion
3	497	318	Upper respiratory tract infection	None	22,009	Weakness,	Calf hypertrophy, weakness	DMD
						Decreased reflexes, hypotonia, Gower sign		Exon 20–25 deletion
2	300–400	300–400	Prolonged diarrhea	Chronic constipation, anemia	12,000	Calf hypertrophy	Fatigue, hypotonia, calf hypertrophy, Gower's sign	BMD/DMD
						Weakness		Exon 48–52 deletion
4	186	235	Leg pain, failure to thrive	Failure to thrive, abdominal pain, dark urine	9,932	Decreased mobility, limp	Fatigue, muscle cramping	Dystroglycanopathy
2	99	80	Urinary tract infection		917	None	Hyperextensibility	DMD/BMD carrier
								Heterozygous for exon 48–50 deletion
16	195	147	Unknown	None	12,131	None	None	Undiagnosed

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 Imaging	Liver Biopsy	Time to CK Measurement (months)	Time to Neurology Consultation (months)	Time to Diagnosis (months)
US	No	3.5	16	17
US	No	0.5	3	1
US	No	2	4	4
None	No	2	2	Undiagnosed
US	No	1	2	3
MRI, MRCP, HIDA	Laparoscopic biopsy	9	9	11
None	No	0.75	1	2.5
US	Needle biopsy	14	14	15
MRI, MRV	Needle biopsy	15	16	18
US	Laparoscopic biopsy	24	25	31
US	No	4	5.5	4
US	No	8	10	Undiagnosed
N/A	N/A	7.0 (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.