Club feet with congenital perisylvian polymicrogyria possibly due to bifocal ischemic damage of the neuraxis in utero.
Club foot is a common congenital deformity, for which a neurogenic process in utero has been proposed in some severe forms, but in most cases its cause remain uncertain. We report on four patients with an unilateral (three cases) or bilateral (one case) clubfoot and a bilateral perisylvian cortical dysplasia. All had severe dysarthria with mild mental retardation, epilepsy occurred in three cases. Direct evidence of fetal lesions of the spinal cord was occasionally present, such as signs of motor axonopathy in two cases analyzed by electrophysiological methods and syringomyelic cavitation at the thoracic level in one case. Even though the sensitivity of the investigations to demonstrate microcopic scars in the spinal cord remains weak, the presence of polymicrogyric rearrangements in the perisylvian cortex, known to proceed from a transient ischemic process occurring in the carotid territory during mid-gestation, strongly suggests that a similar mechanism occurred in the spinal cord. In fact, the foot deformity cannot be viewed as the consequence of lesions to brain regions that do not control the foot motility in the fetus. Extraneurological lesions such as jejunal atresia, possibly proceeding from localized vascular compromise, were also encountered. In one sibship, one sister was found to have a severe developmental anomaly of one foot, suggesting that genetic factors may be involved.
Kammoun
Fatma
F
Service de Neurologie Pédiatrique, CHU Paris sud-Bicêtre, 94275 Paris Cedex, France.
Tanguy
Alain
A
Boesplug-Tanguy
Odile
O
Bensahel
Henri
H
Khouri
Nejib
N
Landrieu
Pierre
P
D000328:Adult; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003025:Clubfoot; D004401:Dysarthria / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D004827:Epilepsy / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D007511:Ischemia / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D011859:Radiography