Hypertrophic pyloric stenosis in a newborn with propionic acidaemia

Hypertrophic pyloric stenosis is exceedingly rare in the first week of life. This report describes a rare case of congenital pyloric stenosis in a newborn with propionic acidaemia. Although newborns with propionic acidaemia may present with feeding problems in the form of vomiting, associated congenital pyloric stenosis should be considered in the differential diagnosis. These patients should be investigated with abdominal ultrasound and or barium meal and once diagnosed they should undergo pyloromyotomy

Propionic acidemia and zinc deficiency presenting as necrolytic migratory erythema

Necrolytic migratory erythema was first described in 1942 in a patient with pancreatic islet cell carcinoma. The disease can, however, have other etiologies including nutritional dermatoses. Here, we describe the clinicopathological picture of a 7-year-old female patient who presented with necrolytic migratory erythema which we believe is secondary to a rare combination of zinc deficiency and propionic acidemia

Diagnóstico diferencial de acidemia propionica mediante el sistema cromatografía gasosa-espectrometría de masas / Differential diagnosis of propionic acidemia by the system gas chromatographylmass spectrometry

Se reportan los 2 prieros casos de acidemia propiónica diagnosticados en Cuba. Se analizaron muestras de orina de ambos pacientes, en relación con metabolitos secundarios del propionil CoA, mediante cromotografía gaseosa-espectrometría de masas. Se detectó en ambos pacientes un patrón de metabolitos urinarios de la enfermedad, apesar de haber observado un amplio rango de varición. Se concluye que, los ácidos 2-metil,3cetovalérico y el metilcítrico deben considerarse de gran valor diagnóstico