ABSTRACT
Pierson syndrome is a rare autosomal recessive disorder which is mainly characterized by congenital nephrotic syndrome (CNS), diffuse mesangial sclerosis (DMS) and distinct ocular abnormalities, including microcoria. Most affected children exhibit early onset of chronic renal failure, neurodevelopmental deficits, and blindness. It is caused by a homozygous or compound heterozygous mutation in the gene encoding laminin beta2 (LAMB2) on chromosome 3p21. In this article, we report on a patient with CNS, bilateral megalocornea and microcoria. The patient had developed renal failure at very early postnatal period and died of septic shock. A novel homozygous donor splice mutation (IVS4 + 2T > C) in LAMB2 gene was identified in the patient.
Subject(s)
Abnormalities, Multiple/genetics , Eye Abnormalities/genetics , Laminin/genetics , Mutation/genetics , Nephrotic Syndrome/genetics , Pupil Disorders/genetics , Fatal Outcome , Female , Gestational Age , Humans , Infant, Newborn , Myasthenic Syndromes, Congenital , RNA Splicing/geneticsSubject(s)
Infant, Newborn, Diseases/diagnosis , Infant, Newborn, Diseases/genetics , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Renal Veins/diagnostic imaging , Thrombosis/diagnosis , Thrombosis/genetics , Vena Cava, Inferior/diagnostic imaging , Acute Kidney Injury/genetics , Calcinosis/diagnosis , Calcinosis/genetics , Fatal Outcome , Humans , Infant, Newborn , Male , Mutation/genetics , Ultrasonography, DopplerABSTRACT
We report a case of VACTERL complex which had concomitant horseshoe lung, laryngeal cleft, and hypertrophic pyloric stenosis, which has not been previously reported.
Subject(s)
Abnormalities, Multiple/genetics , Digestive System Abnormalities/genetics , Heart Defects, Congenital/genetics , Larynx/abnormalities , Lung/abnormalities , Pyloric Stenosis, Hypertrophic/genetics , Spine/abnormalities , Urogenital Abnormalities/genetics , Abnormalities, Multiple/diagnostic imaging , Angiography , Consanguinity , Digestive System Abnormalities/diagnostic imaging , Heart Defects, Congenital/diagnostic imaging , Humans , Infant , Infant, Newborn , Karyotyping , Larynx/diagnostic imaging , Lung/diagnostic imaging , Male , Phenotype , Pulmonary Artery/abnormalities , Pulmonary Artery/diagnostic imaging , Pulmonary Veins/abnormalities , Pulmonary Veins/diagnostic imaging , Pyloric Stenosis, Hypertrophic/diagnostic imaging , Spine/diagnostic imaging , Tomography, X-Ray Computed , Turkey , Urogenital Abnormalities/diagnostic imagingABSTRACT
BACKGROUND: There are few data with respect to prothrombotic risk factors in neonates. AIM: To determine the associated risk factors, clinical features and outcome in newborn infants diagnosed with thrombo-embolism. METHODS: Case records of 25 infants (17 full-term and eight preterm) diagnosed with thrombo-embolism between January 2005 and April 2008 in a neonatal intensive care unit were reviewed. RESULTS: Of the 25 infants, 18 cases of venous (72%) and seven of arterial (28%) thrombo-embolism were recorded; in 18 it was associated with central catheterisation. The sites of thrombosis were portal vein (15), right renal vein (one), right femoral vein (one), multiple veins (one), right femoral artery (3), right iliac artery (2), bilateral iliac and renal arteries (one) and left renal artery (one). Hereditary thrombotic mutations were detected in three patients and anticardiolipin antibody was detected in one, none of whom had been catheterised. The remaining three non-catheterised patients had perinatal risk factors. Venous catheter placement was undertaken in 12 patients (48%), eleven of whom had: umbilical venous catheterisation for exchange transfusion (9), partial exchange transfusion (one) and venous access (one), and one had femoral venous catheterisation for an angiographic study. Arterial catheterisation was undertaken in seven patients (28%) (one infant had both umbilical venous and arterial catheters) for angiographic studies (5) and blood sampling (2). Of the 18 catheterised patients (72%), thrombophilic studies were undertaken in 13 and none had abnormal results. Additional perinatal risk factors were present in 18 patients (72%) and included prematurity (8), congenital heart disease (8), septicaemia (5), dehydration (3), respiratory distress syndrome (3), polycythemia (2), meconium aspiration syndrome (one), pneumonia (one), maternal diabetes (one), necrotising enterocolitis (one) and perinatal asphyxia (one). Although most of the patients recovered after anticoagulant or fibrinolytic therapy, the five (20%) deaths were associated mainly with underlying diseases. CONCLUSION: The most important risk factor for thrombo-embolic events in neonates is placement of central catheters and some perinatal prothrombotic conditions. Nevertheless, hereditary or acquired thrombophilic risk factors may also be a cause of thrombo-embolism.
Subject(s)
Thromboembolism/etiology , Catheterization, Central Venous/adverse effects , Female , Humans , Infant, Newborn , Infant, Premature , Infant, Premature, Diseases/etiology , Male , Prognosis , Retrospective Studies , Risk Factors , Thrombophilia/complications , Venous Thrombosis/etiologyABSTRACT
A 4-day-old neonate presented with respiratory distress owing to chest wall deformity associated with metabolic bone disease. He was found to have congenital hyperparathyroidism and his mother was suffering from post-surgical hypoparathyroidism and vitamin D deficiency. The patient was given calcium lactate and maintenance doses of vitamin D. The respiratory distress subsided, the parathyroid hormone level returned to normal and by 4 weeks of age bone mineral content had improved. Congenital hyperparathyroidism should be considered in neonates presenting with respiratory distress and chest deformity.
