Is surgery necessary for asymptomatic tethered cord in anorectal malformation patients?

BACKGROUND: Evidence supporting routine surgery for asymptomatic tethered cord in patients with anorectal malformation (ARM) is, at best, speculative. The authors therefore examined whether untethering is indicated for asymptomatic tethered cord in patients with ARM. METHODS: A retrospective analysis of all patients with ARM (n = 223) between 1992 and 2002 was conducted. During the same period, 435 patients had surgery for tethered cord. RESULTS: Tethered cord was detected radiologically in 22 (9.8%); 8 patients with a low conus, and 14 with a low conus with and thickened filum. Seven of 22 patients underwent untethering; 3 prophylatic (14%) and 4 for neuro/motor function deficits (18%). All 4 symptomatic patients had significant clinical improvement in their neuro/motor functions after surgery. However, bowel and urinary functions remained unchanged in all 7 patients with a mean follow-up of 6.4 years (range, 4 to 8 years). Fifteen patients with radiologically diagnosed tethered cord remain asymptomatic with a mean follow-up of 2.7 years (range, 8 months to 10 years). CONCLUSIONS: Neuro/motor functions clearly improved with surgery in symptomatic patients. However, bowel and urinary functions remained unchanged after surgery. Only 4 ARM patients with tethered cord required surgery, whereas prophylactic surgery appears to have minimal benefit. Expectant conservative approach in the management of asymptomatic tethered cord patient appears to be safe.

Perinatally diagnosed asymptomatic congenital cystic adenomatoid malformation: to resect or not?

BACKGROUND: Management of asymptomatic congenital cystic adenomatoid malformation (CCAM) is controversial. The natural history of untreated asymptomatic CCAM is unknown, although most surgeons recommend resection of these lesions to prevent future infection. The aim of this study was to determine the relative surgical risk of resection compared with the risk of observation for these patients. METHODS: A retrospective review of hospital records between 1996 and 2002 in a tertiary care pediatric referral center was conducted. All perinatally (prenatal or neonatal) diagnosed CCAMs were included. In addition, patients presenting with late diagnosis of CCAM were also reviewed. RESULTS: Forty-eight children had CCAM diagnosed perinatally. Thirteen of these were symptomatic and required surgery within 6 months; these were excluded from the analysis. Of the 35 asymptomatic infants, 6 were operated on electively before 6 months of age (median age, 4.5 months). The other 29 asymptomatic infants were followed up for more than 6 months. Of these, 9 remained asymptomatic and were eventually operated on electively (median age, 13 months). Three (10%) had CCAM infections at 7, 8, and 11 months of age and required resection. The remaining 17 children have not undergone resection and are still asymptomatic (median follow-up, 3 years). An additional 12 patients presented with a late diagnosis of CCAM. All of these presented with complications (infection or pneumothorax) and underwent resection (median age, 6 years). Overall, the complication rate after resection of an asymptomatic CCAM was not significantly different from those of resected CCAM that had already developed infection or pneumothorax (P =.64). CONCLUSIONS: Ten percent of perinatally diagnosed asymptomatic patients had 5 complications requiring surgery during follow-up. The true incidence is probably higher given the relatively short follow-up in our series. Morbidity after resection of a complicated CCAM was not statistically significantly higher than after elective resection for an asymptomatic CCAM. Although conservative management of asymptomatic CCAM may be warranted, a more extended period of follow-up is necessary before this approach can be recommended.

Genotype/Phenotype Correlations in X-Linked Dominant Charcot-Marie-Tooth Disease.

We have studied the relationship between genotype, clinical phenotype, and pathology in 13 families with dominant X-linked Charcot-Marie-Tooth (CMT) neuropathy. Connexin32 (Cx32) gene mutations were spread throughout the coding region and included eight missense mutations, one 8-bp deletion/4-bp insertion frame shifting mutation, two nonsense mutations, and one deletion of the entire coding sequence. One hundred sixteen affected CMTX patients (53 males and 63 females) and 63 unaffected, at-risk individuals were compared by neurological and electrophysiological examinations and analyzed by gender; nerve biopsies were available from seven index cases. It was found that mutations within all regions of the Cx32 gene coding sequence caused an identical clinical phenotype. Male CMTX patients were affected more severely and showed an age-dependent progression of clinical signs and of the pathology; there was, however, variability in the severity of disease expression, irrespective of age, among males within families of defined genotype. All but 10% of female CMTX patients had only mild signs. Motor nerve conduction velocities were moderately slowed (median nerve MNCV: males 34.5 ± 6.2 m/sec; females 45.8 ± 7.3 m/sec), and motor and sensory nerve amplitudes were reduced (median nerve CMAP: males 3.7 ± 3.7 mV; females 7.8 ± 3.4 mV), with electromyographic evidence of chronic denervation. Differences were significant between gender and between affected and unaffected individuals. In agreement with the electrophysiological observations, pathological studies showed evidence of paranodal demyelination and of a length-related axonal degeneration in motor and sensory nerve fibers. Correlations between genotype and clinical phenotype suggested that missense mutations located within the second transmembrane domain and/or cytoplasmic loop might be associated with milder clinical phenotype, and therefore might be less disruptive of Connexin32 gap junction function. Missense, chain-terminating, or deletion mutations in all other locations of the Connexin32 protein caused severe forms of CMTX and disease onset in the first decade. Observed variability of disease severity among males within kinships suggests the influence of other modifying factors.