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Published on: January 12, 2019
Transaminitis in a Three-year-old Boy with Duchenne Muscular Dystrophy
Qiuli Xie1, Yingen Feng1, Jing Li1
1Department of Infectious Diseases, Shunde Hospital, Southern Medical University, Shunde, Guangdong, China.
Abstract:
Duchenne muscular dystrophy (DMD) is a fatal X-linked genetic disease of the neuromuscular system and is the most serious type of muscular dystrophy in humans. The disease is characterized by progressive muscular atrophy and a poor prognosis. The incidence rate is 1/3500, and symptoms appear at age of 5 years-old. Some patients present with abnormal aminotransferases as the first symptom. In addition to the clinical characteristics and genetic history, electromyography examination, muscle biopsy, serum enzyme examination, and measures of creatine kinase (CK), CK isoenzyme, and serum lactate dehydrogenase are important features of auxiliary examination. Clinicians who encounter unknown causes of transaminitis should consider the possibility of DMD. We describe here a 3 year-old pediatric patient with increased aminotransferases who had elevated CK and a family genetic history but without liver damage on computed tomography. He was suspected as having inherited the disorder and was finally diagnosed as having DMD by next-generation sequencing.
Insights
Duchenne muscular dystrophy (DMD), a severe genetic neuromuscular disorder, can initially present with elevated liver enzymes. Early diagnosis in pediatric patients is crucial for timely intervention and improved outcomes.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Duchenne muscular dystrophy (DMD) is a severe, fatal X-linked genetic neuromuscular disorder.
- Characterized by progressive muscle atrophy and a poor prognosis, DMD affects 1 in 3500 males, with symptoms typically emerging around age five.
- Elevated aminotransferases can be an early, presenting symptom in some DMD patients.
Observation:
- Some DMD patients exhibit elevated aminotransferases as an initial symptom, potentially misdiagnosed as liver disease.
- A 3-year-old pediatric patient presented with increased aminotransferases and elevated creatine kinase (CK), with a family history suggestive of genetic disorder.
- Computed tomography revealed no liver damage, prompting further investigation.
Findings:
- Diagnostic tools include clinical and genetic history, electromyography, muscle biopsy, and serum enzyme tests (CK, CK isoenzyme, lactate dehydrogenase).
- Next-generation sequencing confirmed the diagnosis of DMD in the pediatric patient.
- This case highlights the importance of considering DMD in children with unexplained transaminitis.
Implications:
- Clinicians should consider DMD in pediatric cases of unexplained elevated aminotransferases, even without apparent liver damage.
- Early diagnosis of DMD through genetic sequencing is vital for timely management and genetic counseling.
- Recognizing atypical presentations of DMD can improve diagnostic timelines and patient outcomes.
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