[Diagnosis of Krabbe's leukodystrophy by transmission electron microscopy. Case report]. / Diagnóstico de leucodistrofia de Krabbe por microscopia electrónica de transmisión. Informe de un paciente.

Krabbe's leukodystrophy is a rare hereditary disease in Mexico. For that reason we report the case of an 11-year-old child. Ultrastructural studies of sural nerve biopsy specimen are described. Myelin sheaths were uniformly thin for the fiber diameters. Cytoplasm of Schwann cells exhibited a moderate dilatation with non-membrane masses with partly curvilinear, needle-shaped structures of variable length. The inclusions often had electron-dense or electron-lucent halos. These inclusions ultrastructurally represented Krabbe's leukodystrophy, and this method aids in the diagnosis in cases that are not available for genetic studies or special laboratory techniques. In this patient, diagnosis of Krabbe's disease was delayed and established several years after the initial symptoms. Electron microscopic examination of a sural nerve provided evidence for a diagnosis of Krabbe's leukodystrophy.

[Congenital cervical vertebral dysmorphism. Syndromatic integration through radiological clinical correlation]. / Dismorfismo vertebral cervical congénito. Integración sindromática mediante correlación clínica-radiológica.

Cervical spine dysmorphisms (CSD) occurs in an heterogeneous group of patients unified by the presence of congenital defects result from malalignment, formation or segmentation of the cervical spine; generating disability. This problem requires comprehensive evaluation of patients with scoliosis diagnosis, correlating clinical and radiological findings and the presence of numerous abnormalities of other systems in order to give an opportunely syndrome diagnosis and multidisciplinary management of this patients with the aim to give them an integral rehabilitation treatment increasing their quality of life. In this study we described clinical and radiological findings in children with CSD diagnosis. We studied 47 consecutive outpatients of Pediatric Rehabilitation Division in Instituto Nacional de Rehabilitaci6n (INR) with scoliosis diagnosis. Sixteen patients (34%) had CSD diagnosis. Most frequently syndromes (Sx) were: Klippel-Feil Sx (19%), Wildervanck (4.3%), neurofibromatosis (4.3%), Morquio (2.1%), Stickler (2.1%) and Williams (2.1%). We found CSD diagnosis in 34% of group studied, greater than medical literature.

[Results of the experimental repair of osteochondral lesions in a pig model using tissue engineering]. / Resultados en la reparación experimental de lesiones osteocondrales en un modelo porcino mediante ingeniería de tejidos.

OBJECTIVE: To repair experimental osteochondral knee lesions in pigs using tissue engineering. MATERIAL AND METHODS: Eight 40-kg pigs underwent surgery. Cartilage and periosteal biopsies of their control knee were taken. Cartilage and periosteal cells were independently isolated, cultured and seeded in biodegradable PGA and PLA polymers that were fixed on the bottom of an osteochondral defect in the pig's experimental knee, with bioabsorbable Mitek implants. Four months later the pigs were sacrificed and the knees were analyzed with nuclear magnetic resonance imaging (NMRI), macroscopic assessment, histology, electron microscopy (EM), scanning electron microscopy (SEM) and SEM element analysis. RESULTS: All the defects were filled with cartilage-like tissue according to the NMRI evaluation and the visual examination. Hyaline-like cartilage was obtained in 3 defects and fibrocartilage in 5. The EM showed chondrocytes in the repair tissue. The SEM showed appropriate integration to the bone and the surrounding tissue. SEM element analysis showed sulphurized matrix attached to the bone with calcium and phosphates as predominant elements. DISCUSSION: Tissue engineering enabled the production of tissues similar to normal ones. The polymer fixation system was effective.

Diagnóstico de leucodistrofia de Krabbe por microscopia electrónica de transmisión: informe de un paciente / Diagnosis of Krabbe's leukodystrophy by transmission electron microscopy: case report

La leucodistrofia de Krabbe es una enfermedad rara en México, por este motivo se reporta un caso de una niña de 11 años. Se describen los estudios ultraestructurales de biopsia de nervio sural. Las vainas de mielina fueron muy delgadas. El citoplasma de las células de Schwann contenía estructuras no membranosas y estructuras en forma de agujas parcialmente curvilíneas de longitud variable. Las inclusiones a menudo tenían material electrodenso o electrolúcido. Estas características representan a la leucodistrofia de Krabbe. Los estudios ultraestructurales ayudan al diagnóstico en los casos en que no se dispone de estudios genéticos o técnicas especiales de laboratorio. En la paciente descrita el diagnóstico de enfermedad de Krabbe se estableció tardíamente de acuerdo con el inicio de los síntomas. El diagnóstico de leucodistrofia de Krabbe se puede evidenciar con el estudio de microscopia electrónica de nervio sural.

Krabbe's leukodystrophy is a rare hereditary disease in Mexico. For that reason we report the case of an 11-year-old child. Ultrastructural studies of sural nerve biopsy specimen are described. Myelin sheaths were uniformly thin for the fiber diameters. Cytoplasm of Schwann cells exhibited a moderate dilatation with non-membrane masses with partly curvilinear, needle-shaped structures of variable length. The inclusions often had electron-dense or electron-lucent halos. These inclusions ultrastructurally represented Krabbe's leukodystrophy, and this method aids in the diagnosis in cases that are not available for genetic studies or special laboratory techniques. In this patient, diagnosis of Krabbe's disease was delayed and established several years after the initial symptoms. Electron microscopic examination of a sural nerve provided evidence for a diagnosis of Krabbe's leukodystrophy.