ABSTRACT
We describe a patient with hemiconvulsion-hemiplegia-epilepsy syndrome. The pathophysiology of hemiconvulsion-hemiplegia-epilepsy syndrome remains uncertain and there are probably multiple potential contributing factors. Our patient had a chromosomal 16p13.11 microdeletion that confers susceptibility to various types of epilepsy. This is the first report detailing an association of hemiconvulsion-hemiplegia-epilepsy syndrome with a 16p13.11 deletion and identifies another potential causal factor for hemiconvulsion-hemiplegia-epilepsy syndrome.
Subject(s)
Chromosome Disorders/complications , Epilepsy/complications , Hemiplegia/complications , Chromosome Deletion , Chromosome Disorders/diagnosis , Chromosomes, Human, Pair 13 , Electroencephalography , Epilepsy/diagnosis , Female , Hemiplegia/diagnosis , Humans , Infant , Magnetic Resonance Imaging , Tomography Scanners, X-Ray ComputedABSTRACT
BACKGROUND: Surgical approaches for forefoot osteomyelitis include amputation with immediate wound closure or resection followed by either staged re-resection and wound closure or local care of the open wound for secondary healing. This study evaluated the effectiveness of closed, staged, and open forefoot amputations in preventing major leg amputation and identified those variables that are associated with successful limb preservation. METHODS: From July 2002 to June 2004, 208 patients with forefoot osteomyelitis or gangrene underwent minor amputation according to a standard treatment algorithm. Wounds with limited cellulitis underwent immediate wound closure (CLOSED), wounds with marginally viable soft tissue underwent open amputation followed by wound closure at 2 to 7 days (STAGED), and wounds with tenosynovitis or extensive necrosis underwent débridement with no attempt at wound closure (OPEN). Patient demographics, need for further operative interventions, time to complete healing, and progression to major amputation were recorded. RESULTS: With four subjects lost to follow-up, 204 patients (98%) (94 CLOSED, 56 STAGED, and 54 OPEN) were monitored to complete healing, major amputation, or death. OPEN amputations had a significantly reduced initial healing rate (37%, P < .001) and a frequent need for repeat operative intervention (43%), although successful limb salvage was ultimately achieved in 70% of the cases. Initial healing in the CLOSED and STAGED amputation groups was similar (71% and 78%, respectively), leading to excellent early limb salvage (86% and 91%). The median time to healing for closed, staged, and open amputations was 1.2, 1.6, and 4.6 months, respectively (P < .001). Follow-up evaluation demonstrated the initial improvements in limb salvage with the CLOSED and STAGED groups were lost, resulting in similar amputation rates among the three groups of 30% to 35% over 36 months. CONCLUSIONS: Although open amputation of extensive forefoot infections frequently requires repeat operative interventions and a prolonged time to complete healing, this approach provides limb salvage rates approaching those observed for less invasive infections amenable to immediate closure. Staged closure offers an improved time to healing without negatively impacting the risk of major limb amputation. Independent of their initial operative approach, these patients frequently progress to early leg amputation.