Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports.

Krabbe disease is an autosomal recessive neurodegenerative disorder due to a defect of the lysosomal enzyme ß-galactocerebrosidase (ß-GALC). Depending on the age of onset, the disease is classified into infantile and later-onset forms. We report neuroradiological, neurophysiological and molecular findings in two Greek patients with the infantile form of Krabbe disease. The index patients presented at the age of 3.5 and 6 months, respectively, due to developmental delay. Magnetic resonance imaging (MRI) of the first patient's brain demonstrated signs of leukodystrophy, while nerve conduction velocities (NCVs) were significantly decreased. The second patient's MRI at the age of 4 months was initially normal, but at 18 months demonstrated leukodystrophic alterations as well, whereas NCVs were also significantly delayed. In both patients, a severe decrease in ß-GALC, activity supported the diagnosis of Krabbe disease, while the final diagnosis was confirmed by molecular genetic testing. Two homozygous mutations of the GALC gene, the c.411_413delTAA [p.K139del] mutation in the first patient, and the c.749T>C [p.I250T] mutation in the second patient, were identified. At their last follow-up visit at the age of 4 and 6 years, respectively, both patients were bedridden and quadri-plegic, suffering from frequent respiratory tract infections and fed through a gastrostomy. Both mutations found in homozygosity in these two unrelated patients of Greek ancestry, could pinpoint a common origin. Genotyping of patients with Krabbe disease is important, in order to contribute to the creation of a European mutation database and to further study possible genotype-phenotype correlations of the disease.

A novel technique for surgical reconstruction of the perineal floor following anteroposterior exenteration of the pelvis--case report and review of the literature.

Pelvic exenteration is the only potentially curative surgical procedure for patients with recurrent cervical, vaginal, vulvar or rectal cancers, especially following adjuvant chemotherapy or radiotherapy. Morbidity rates, however, remain high, which is significantly attributed to complications of the pelvic floor reconstruction techniques. We describe a novel reconstruction technique of the pelvic floor, involving a combination of an oblique rectus abdominis myocutaneous flap and a synthetic absorbable mesh as a pelvic sling for additional support, in a 63-year-old female patient with recurrent vulvar carcinoma. Combining the use of myocutaneous flaps and prosthetic mesh material can provide an effective alternative solution to the complications arising from pelvic floor reconstruction of large defects after exenteration procedures, especially in previously irradiated settings. Further studies are necessary to define the long-term outcomes and indications of these techniques, as well as the optimal combination between the available myocutaneous flaps and prosthetic materials.