Anne Clercx

Idiopathic infantile arterial calcification: a surviving patient with renal artery stenosis.

Idiopathic infantile arterial calcification (IIAC) is a rare hereditary, fatal disease. Death occurs usually within the first 28 months of life. IIAC is characterized by calcifications along the internal elastic membrane and proliferation of the intimal layer of muscular arteries. Specific therapy consists of administration of diphosphonates, but its effectiveness has been a matter of controversy. We report a case treated with diphosphonates which has had an unusual outcome.

Early MR detection of cortical and subcortical hypoxic-ischemic encephalopathy in full-term-infants

Four observations illustrate the potential of MR imaging in the early depiction of multiple types of neuropathologic lesions which may coexist in the fullterm newborn, upon severe hypoxic-ischemic encephalopathy (HIE). In particular, diffuse, postnatal involvement of cerebral cortex and subcortical white matter (WM) is demonstrated. Cortical hyperintensity on both proton-density- and T1-weighted images is probably related to cellular necrosis which is distributed diffusely or parasagittally. Hyperintense, frontal, subcortical WM edging on proton-density-weighted images results from the increase of water concentration, induced either by infarct or by edema. Diffuse WM areas of low intensity on T1-weighted images and of high intensity on T2-weighted images are presumably related to cytotoxic and/or vasogenic edema, proportional to the underlying damaged tissues. On follow-up MR examinations, several months later, the importance of cortical atrophy and of the myelination delay appeared related to the importance of the lesions detected during the postnatal period.

Carnitine deficiency with cardiomyopathy presenting as neonatal hydrops : successful response to carnitine therapy

SummaryA small-for-date infant presented at birth with severe non-immune hydrops, cardiac failure, metabolic acidosis and hypoglycaemia. Ultrasonography disclosed a cardiomyopathy. Initial therapy consisting of artificial ventilation, inotropes and diuretics resulted in partial disappearance of oedema without significant improvement in cardiac function. Episodes of hypoglycaemia recurred despite continuous glucose influsions.Total serum carnitine from cord blood was 1.65 nmoles/ml and was undetectable on day 20. Oraldl-carnitine supplements resulted in normoglycaemia, dramatic improvement in cardiac function and restoration of serum carnitine levels to normal values. The infant was thereafter maintained on carnitine therapy. Follow-up over 1 year showed moderate growth retardation and normal developmental milestones.In order to account for such a severe neonatal presentation of carnitine deficiency, a combination of defective pre- and postnatal carnitine supply with an inborn error of carnitine handling is considered. The present case illustrates the need for evaluation of carnitine status in fetuses and neonates presenting with hydrops associated with cardiac failure.

Maternal diabetes and fetal malformations: A case associating cardiovascular, facial and skeletal malformations

Abstract Maternal diabetes is known to be a condition associated with a high frequency of fetal malformations. However, pathogenic factors for these malformations and their possible classification into different entities are not yet well established. We present the case of an infant born to a diabetic mother and affected by several malformations. This report consolidates different hypotheses put forward in recent years.

Modifications of Surfactant Phospholipid Pattern in Premature Infants Treated with Curosurf: Clinical and Dietary Correlations

Neonatal respiratory distress syndrome (RDS) is characterized by an immature surfactant phospholipid pattern. We aimed to study the evolution of surfactant phospholipids over a 6-day period, before and after surfactant replacement therapy with Curosurf, and to investigate possible interactions with exogenous phospholipids administered during total parenteral nutrition (TPN). Seventeen premature infants with RDS were randomly assigned to receive TPN with lipids or without (glucose group). Both groups showed a similar evolution of the surfactant phospholipids. At day 6, the surfactant composition had changed towards a mature human surfactant pattern except for phosphatidylglycerol which remained low (1%), compensated for by a high phosphatidylinositol and phosphatidylserine proportion (13.3%), Phospholipid subcomponents in plasma remained unchanged in both groups. Plasma total cholesterol (151 +/- 18 vs. 113 +/- 6 mg/dl, p less than 0.05) and cholesteryl esters (172 +/- 20 vs. 113 +/- 9 mg/dl, p less than 0.01) were higher in the glucose than in the lipid group. Total calorie intake was significantly higher in the lipid group (85 +/- 4 vs. 64 +/- 6 kcal/kg.day, p less than 0.01).

Cutaneous porphyria in a neonate with tyrosinaemia type 1

Abstract A term infant born to consanguineous parents presented at birth with hypoglycaemia, thrombocytopenia, coagulopathy and hyperbilirubinaemia associated with polycythaemia due to delayed cord clamping. Despite phototherapy and correction of polycythaemia by partial exchange transfusion, coagulopathy, hypoglycaemia and conjugated hyperbilirubinaemia persisted, suggesting hepatic failure. Metabolic work-up led to the diagnosis of tyrosinaemia type 1 on day 4. Two – (2-nitro-4-trifluoromethylbenzoyl) – 1,3 cyclohexanedione (NTBC) treatment, started on day 5, resulted in progressive clinical improvement and unambiguous biochemical response. Severe skin purpuric lesions occurred in areas exposed to phototherapy. These resolved slowly after its discontinuation. Urine analysis sampled just before and 6 days after starting NTBC treatment showed high levels of type 1 coproporphyrin isomers. Such findings do not seem directly related to tyrosinaemia type 1 where succinylacetone inhibits δ-aminolevulinic acid (δ-ALA) dehydratase and where the accumulation of δ-ALA results in neurotoxicity without photosensitivity. Conclusion We describe a cutaneous form of porphyria in a neonate presenting with severe liver failure due to tyrosinaemia type 1. This porphyria is tentatively attributed to a secondary accumulation of coproporphyrins due to cholestasis, as reported in the bronze baby syndrome and recently described in neonates with purpuric phototherapy-induced eruption, rather than to a primary defect of porphyrin metabolism. The hypothesis of a direct effect of tyrosinaemia type 1 on porphyrin excretion is also discussed.

Erythroblastopenia associated with methylmalonic aciduria : Case report and in vitro studies

Various cytopenias, including neutropenia, thrombocytopenia and pancytopenia, have been reported in association with inborn errors of branched amino acid metabolism. We report here on a case of anemia associated with erythroblastopenia-that is less frequent in this context-in a neonate with methylmalonic aciduria. We used a semisolid erythroid culture system to investigate the effect on in vitro erythropoiesis of organic acids found in excess in this patient: methylmalonic (MMA) and propionic (PA) acids. First, the addition of 10% serum of the patient to a normal bone marrow progenitor culture suppressed the erythrocyte colony-forming unit growth in comparison to a pool of normal serum, while the addition of a 1:1 mixture of normal and patient serum resulted in an intermediate inhibition. MMA, when added to culture medium, resulted in a moderate inhibition of erythropoiesis only at a higher concentration than observed in our patient or reported in other cases. Conversely, PA showed an inhibitory effect at a concentration commonly observed in methylmalonic aciduria. The same effect was observed when the cells were in the presence of PA only for 72 h and then secondly plated in semisolid culture. Neither MMA nor PA showed any effect on the cell number and viability after a 3-, 4- or 7-day incubation except at the highest concentration tested.