ABSTRACT
A newborn infant with a rare variety of combine anterior and posterior rachischisis in the lumbosacral spine is reported. The associated anomalies in this infant were meningomyelocele, communication of the colon with the spinal cleft, and anal atresia.
Subject(s)
Abnormalities, Multiple , Colon/abnormalities , Hernia/complications , Spinal Diseases/congenital , Hernia/diagnostic imaging , Humans , Infant, Newborn , Intestinal Atresia/complications , Intestinal Atresia/diagnostic imaging , Male , Meningomyelocele/complications , Notochord , Radiography , Spinal Diseases/complications , Spinal Diseases/diagnostic imaging , SyndromeSubject(s)
Lipids/blood , Thalassemia/blood , Child , Child, Preschool , Cholesterol/blood , Hemoglobins/analysis , Homozygote , Humans , Infant , Triglycerides/bloodABSTRACT
A female premature infant with dwarfism, peculiar facial features, cleft palate and bone anomalies including bowing of the lower extremities with pretibial skin dimpling, the so called "campomelic syndrome" is presented. Other symptoms were hypotonia and respiratory distress. The radiological and autopsy findings in this child are described. The lack of known teratogenic factors during the pregnancy and the available data about the familial occurance of this malformation syndrome suggest the possibility of an autosomal recessive mode of inheritance in this patient. This is the first case of campomelic syndrome reported from Iran.
Subject(s)
Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Cleft Palate/complications , Ductus Arteriosus, Patent/complications , Dwarfism/complications , Female , Heart Septal Defects, Ventricular/complications , Humans , Hydronephrosis/complications , Infant, Newborn , Limb Deformities, Congenital , Muscle Hypotonia/complications , Respiratory Distress Syndrome, Newborn/complications , Skull/abnormalities , Syndrome , Ureter/abnormalitiesABSTRACT
Blood levels of 5-hydroxytryptamine (5-HT) and epinephrine are increased in conditions such as severe hypoxia, and hypovolemic or septic shock. The effect of these agents, which influence the blood coagulation system, were studied in vitro on platelets from newborns. 5-HT was determined in platelets from 18 newborns and 28 adults. The 5-HT content was 0.305 +/- 0.144 microgram/10(9) platelets in newborns and 0.675 +/- 0.212 microgram/10(9) platelets in the adult controls, a difference which is statistically significant (P less than 0.001). The 5-HT content of newborn platelets proved to be higher than that reported in the literature. Further studies on platelet aggregation due to 5-HT and epinephrine were then carried out. These demonstrated first-phase aggregation in 40% of cases when both 5-HT and epinephrine were applied simultaneously, while in the majority of the newborns no reaction was encountered when each of these substances was applied separately. However, in 2 cases, simultaneous application of 5-HT and epinephrine produced both first- and second-phase platelet aggregation. The reduced response of the platelets in the newborn to these aggregating agents can be considered as a protection against disseminated intravascular coagulation (DIC), particularly in high-risk situations.
Subject(s)
Blood Platelets/drug effects , Epinephrine/pharmacology , Infant, Newborn , Serotonin/pharmacology , Drug Interactions , Epinephrine/blood , Humans , Hypoxia/blood , Platelet Aggregation/drug effects , Serotonin/blood , Shock/blood , Shock, Septic/bloodABSTRACT
A case of hypertriglyceridemia in association with homozygous beta-thalassemia in an 11-month-old female infant is reported. The hypertriglyceridemia proved to be secondary, as it was indicated by clinical features as well as laboratory findings. Attention is called to a possible alteration of lipid metabolism in association with thalassemia major.
