Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria.

Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and severe psychosocial burden. Oral administration of tetrahydrobiopterin can increase residual enzyme activity, but most patients with severe clinical phenotypes are nonresponders. We performed liver cell transplantation in a 6-year-old boy with severe tetrahydrobiopterin nonresponsive phenylketonuria who failed to comply with diet prescriptions. The transplanted hepatocytes were obtained in part from an explanted glycogen storage type 1b liver. Following two infusions, blood phenylalanine levels returned within the therapeutic target while the phenylalanine half-life assessed by loading tests decreased from 43 to 19 h. However, 3 months later, blood phenylalanine concentrations increased and the phenylalanine intake had to be reduced. Cell-based therapy is a promising therapeutic option in phenylketonuria, and the domino concept may solve the issue of cell sources for hepatocyte transplantation.

Imaging of primary unilateral pulmonary hypoplasia: a case report.

BACKGROUND: Pulmonary hypoplasia is a rare cause of neonatal dyspnea almost always secondary to other conditions. We report an exceedingly rare case of primary unilateral pulmonary hypoplasia. RESULTS AND DISCUSSION: This case illustrates the role of prenatal magnetic resonance imaging when this condition is suspected during the fetal life. Combined with ultrasounds, this imaging modality offers a three-dimensional evaluation of the lungs that can be critical for postnatal medical management.

[Diagnosis using spiral computed tomography of an internal hernia through the uterine broad ligament]. / Diagnostic par scanner spirale d'une hernie interne au travers du ligament large uterin.

Internal hernia is an uncommon cause of intestinal obstruction producing only 1% of all acute small bowel obstructions. Hernias involving a defect of the broad ligament of the uterus are particularly uncommon. We report a case successfully diagnosed by spiral CT with multiaxial reconstruction.

[Cystic lesion and compression of the posterior epidural space associated with bilateral lumbar spondylolysis. Presentation of a case. Correlation with observable arthrographic images in a case of spondylolysis]. / Lésion kystique et compressive de l'espace épidural postérieur associée à une spondylolyse lombaire bilatérale. Présentation d'un cas. Corrélation avec les images arthrographiques observables en cas de spondylolyse.

The authors report a compressive cystic lesion of the central lumbar retrodural space, which was related to a bilateral L5 spondylolysis. Correlation is made with the contralateral opacification of the facet joints sometimes observed during contrast injection of these joints. Pathways and possible causes are discussed.