Acute rhabdomyolysis following viral infection with coxsackie A4 in a 50-day-old infant with Fukuyama congenital muscular dystrophy.

BACKGROUND: Fukuyama congenital muscular dystrophy (FCMD), which is characterized by generalized muscle weakness, hypotonia, and motor delay during early infancy, gradually progresses with advanced age. Although acute rhabdomyolysis following infection in patients with FCMD has occasionally been reported, no studies have investigated rhabdomyolysis following viral infection in FCMD patients during early infancy. CASE REPORT: We report the case of a 50-day-old girl with no apparent symptoms of muscular dystrophy who developed severe acute rhabdomyolysis caused by viral infection, resulting in quadriplegia and respiratory failure therefore requiring mechanical ventilation. Brain magnetic resonance imaging incidentally showed the typical characteristics of FCMD, and FCMD was confirmed by genetic analysis, which revealed a 3-kb retrotransposon insertion in one allele of the fukutin gene and a deep intronic splicing variant in intron 5 in another allele. The virus etiology was confirmed to be Coxsackie A4. CONCLUSION: We report a severe case of acute rhabdomyolysis with the earliest onset of symptoms due to the Coxsackie A4 virus in a patient with FCMD. The present findings indicate that physicians should consider FCMD with viral infection a differential diagnosis if the patient presents with acute rhabdomyolysis following a fever.

Rhabdomyolysis associated with human parvovirus B19 infection in a patient with Fukuyama-type congenital muscular dystrophy.

Patients with Fukuyama-type congenital muscular dystrophy sometimes experience transient exacerbations of muscle weakness. We took care of a 9-year-old boy with Fukuyama-type congenital muscular dystrophy who presented with acute respiratory failure and decreased exercise ability with marked elevation of serum creatine kinase indicating rhabdomyolysis. At that time, his younger sister suffered from erythema infectiosum. Although he had no particular symptoms, he was tested and proven to have acute human parvovirus B19 infection based on detection of anti-B19 IgM and parvovirus B19 DNA in his serum. His acute rhabdomyolysis was possibly triggered by human parvovirus B19 infection.

Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy.

Fukuyama congenital muscular dystrophy (FCMD), which is characterized by cortical migration defect and eye abnormalities, is the most common subtype of CMD in Japan. Fukutin (FKTN), the responsible gene for FCMD, encodes a protein involved in the glycosylation of alpha-dystroglycan. We have experienced some patients with FCMD who showed sudden exacerbation of muscle weakness with marked elevation of serum creatine kinase (CK) and urinary myoglobin levels a few days after a febrile episode of viral infection, occasionally leading to death. To describe this peculiar phenomenon, we focused on 12 patients who developed a sudden exacerbation of muscle weakness among 96 genetically defined FCMD patients and hospitalized because of a febrile illness at Tokyo Women's Medical University between 1997 and 2008. All the 12 patients were homozygous for a 3-kb insertion mutation of FKTN. The patients developed exacerbation of muscle weakness ranging from paralysis to loss of head control. The onset was concentrated in summer, and coxsackieviruses and enteroviruses were most often detected, especially in infantile patients. Eight of the 12 patients were treated with corticosteroids and recovered within 2 weeks. Four patients were treated without steroid, and needed 18.5 days on mean for improvement. None developed renal failure. The reason for muscle damage induced by viral infection remains unknown; however, physicians should consider its risk, sometimes leading to death, and draw it to parents' attention, especially in the defervescent stage.