Congenital monomelic neurogenic disorder with calf muscle hypertrophy.
An 8-year-old girl had hypertrophy of the right calf muscle since birth, with progressive ankle contracture and mild muscle weakness. Her right leg was 3 cm shorter than her left. Electromyography and biopsy of the affected muscle showed neurogenic changes. She also had neurogenic bladder and spina bifida occulta at the S1 level. We believe that the spina bifida was responsible for the neurogenic changes in her right calf, but could not find definite evidence for this association. Although cases with neurogenic muscle hypertrophy, especially calf muscle hypertrophy, have been reported, none of them was congenital or associated with spina bifida occulta.
Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan. nagasawa-t@ncchd.go.jp
Tetsuro
T
Nagasawa
Akira
A
Sudo
Michio
M
Fukumizu
Shigeru
S
Hanaoka
Masayuki
M
Sasaki
Kenji
K
Sugai
Ikuya
I
Nonaka
D002648:Child; D004576:Electromyography; D005260:Female; D006801:Humans; D006984:Hypertrophy / Q000150:complications / Q000473:pathology; D007866:Leg / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D018482:Muscle, Skeletal / Q000473:pathology* / Q000503:physiopathology; D009468:Neuromuscular Diseases / Q000151:congenital*; D016136:Spina Bifida Occulta / Q000150:complications*; D014057:Tomography, X-Ray Computed; D001750:Urinary Bladder, Neurogenic / Q000150:complications