title: McArdle's disease in childhood: report of a new case.
abstract: McArdle's disease (glycogenosis type V) is an inherited glycogen storage disease characterized clinically by myalgia, cramps and sometimes myoglobinuria, triggered by exercise. The onset of exercise intolerance is usually in late childhood or adolescence and diagnosis is exceptionally established during infancy. We report the case of a 6-year-old girl who had been complaining of aching muscles for a long time, and who presented after a near-drowning incident, with extensive muscle necrosis, probably secondary to myophosphorylase deficiency-induced cramps. These unusual manifestations led to the diagnosis of this rare disorder. We compare the clinical findings of this case to nine previous reports. This highlights the heterogeneous spectrum of this disease in childhood and supports the distinction of three clinical pictures in childhood: a neonatal form rapidly fatal, a milder form with congenital myopathic symptoms and a benign classical form with myalgia, cramps and pigmenturia.
authors.affiliation: Service de Neuropédiatrie, Hôpital Saint-Eloi, Montpellier, France.
authors.forename: A
authors.initials: A
authors.lastname: Roubertie
authors.forename: K
authors.initials: K
authors.lastname: Patte
authors.forename: F
authors.initials: F
authors.lastname: Rivier
authors.forename: A M
authors.initials: AM
authors.lastname: Pages
authors.forename: I
authors.initials: I
authors.lastname: Maire
authors.forename: B
authors.initials: B
authors.lastname: Echenne
mesh_terms: D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D005260:Female; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis*; D006801:Humans; D008297:Male; D009120:Muscle Cramp / Q000201:enzymology; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D015701:Near Drowning; D009336:Necrosis; D006005:Phosphorylases / Q000172:deficiency; D012720:Severity of Illness Index
chemical_list: D006005:Phosphorylases