Suspected sexual abuse: an unusual presentation form of congenital myotonic dystrophy.
In children, anal abnormalities due to various causes may be confused with sexual abuse. We present the case of a child in whom the suspicion of abuse due to anal dilatation led to the previously unknown diagnosis of myotonic dystrophy. Myopathic involvement of the perianal musculature is a known feature of congenital myotonic dystrophy that usually appears in late childhood or adolescence.


CONCLUSIONS
We stress the importance of considering an underlying myopathic condition in the differential diagnosis of anal laxity. Further studies, such as anal ultrasonography, may help when the diagnosis of abuse is not clear.
Department of Paediatrics, Hospital Ramón y Cajal, Madrid, Spain. lsuarez@hrc.insalud.es
L
L
Suárez
A
A
Bélanger-Quintana
H
H
Escobar
G
G
de Blas
J
J
Benítez
E
E
Lobo
F
F
de Miguel
J M
JM
Aparicio
D002648:Child; D002650:Child Abuse, Sexual / Q000175:diagnosis*; D003937:Diagnosis, Differential; D004576:Electromyography; D005260:Female; D006801:Humans; D008365:Manometry; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000235:genetics; D018911:Trinucleotide Repeats