[A boy with an abnormal right part of his body].

We were consulted with pictures of a 10-year-old Ukrainian boy with red maculae over a large part of his body and hypertrophy and varicose veins of the right arm and leg due to Klippel-Trenaunay syndrome.

Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency.

Unlabelled: 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is considered to be a rare cause of congenital microcephaly, infantile onset of intractable seizures and severe psychomotor retardation. Here, we report for the first time a very mild form of genetically confirmed 3-PGDH deficiency in two siblings with juvenile onset of absence seizures and mild developmental delay. Amino acid analysis showed serine values in CSF and plasma identical to what is observed in the severe infantile form.

Accuracy of the Precision® point-of-care ketone test examined by liquid chromatography tandem-mass spectrometry (LC-MS/MS) in the same fingerstick sample.

Background: The Precision(®) (Abbott Diabetes Care) point-of-care biosensor test strips are widely used by patients with diabetes and clinical laboratories for measurement of plasma β-hydroxybutyrate (β-HB) concentrations in capillary blood samples obtained by fingerstick. In the literature, this procedure has been validated only against the enzymatic determination of β-HB in venous plasma, i.e.

Deletion of chromosome region 18q21.1 --> 18q21.3 in a patient without clinical features of the 18q- phenotype.

In a 16-month-old boy referred because of developmental delay and asymmetric motor development, chromosome analysis showed an aberrant chromosome 18 in all 25 metaphases examined. The chromosome aberration was initially interpreted either as an interstitial deletion of chromosome region 18q21.1 --> 18q21.