RESUMEN
Molybdenum cofactor deficiency is a rare neurometabolic disease that is usually characterized by seizures, abnormal muscle tonus, developmental delay and poor nutrition, and is seen soon after birth. Pyloric stenosis causes serious vomiting in the first months of life. The presence of neurologic damage in molybdenum cofactor deficiency and possible abnormal innervations may cause pyloric stenosis; however, the pathogenesis is unclear. Pyloric stenosis with molybdenum cofactor deficiency has been described in two cases. Herein, we report the third case and suggest that hypertrophic pyloric stenosis should be kept in mind as a clinical manifestation of molybdenum cofactor deficiency.
RESUMEN
The usage of drugs during pregnancy affect the fetus and the newborn. In this report, we present findings from a newborn baby, whose mother was epileptic, and was under the treatment of valproic acid and carbamazepine during pregnancy. We have found symptoms of withdrawal syndrome, hyponatremia and feeding problem, which was most probably related to exposure to the mentioned drugs. We have also diagnosed hypomagnesaemia and atrial septal defect 4 milimeters in diameter. There are already many reports about the side effects of valproic acid and carbamazepine usage during pregnancy. To the best of our knowledge, hypomagnesaemia has not yet been reported as a side effect. We think that hypomagnesaemia is also related to the usage of antiepileptics.
RESUMEN
BACKGROUND: Transient tachypnea of neonate (TTN) and respiratory distress syndrome (RDS) of the newborn are the most common cause of early respiratory distress in the immediate neonatal period. There is increasing evidence to support the role for the activation of the renin angiotensin system during acute lung injury. OBJECTIVES: The purpose of this study was to determine if there is a relationship between angiotensin-converting enzyme (ACE) I/D polymorphism, ACE activity and TTN and respiratory distress syndromes. METHODS: Nineteen neonates with TTN, 20 neonates with RDS and 21 control infants are studied for ACE polymorphism and serum ACE activity. RESULTS: Twenty six (43.3%) patients have DD polymorphism, 19 (31.7%) patients have ID polymorphism and 15 (25%) patients have II polymorphism. Serum ACE activity is 43.5 ± 1.8 (40-46) U/L in DD, 31.5 ± 2.3 (28-36) U/L in ID and 22.1 ± 2.1(19-46) U/L in II patient. CONCLUSIONS: The study could not find any difference in DD alleles and ACE activity between control group and TTN group. ACE polymorphism was not different between RDS group and control group in this study.
Asunto(s)
Peptidil-Dipeptidasa A/genética , Peptidil-Dipeptidasa A/metabolismo , Polimorfismo Genético , Síndrome de Dificultad Respiratoria del Recién Nacido/genética , Taquipnea Transitoria del Recién Nacido/genética , Estudios de Casos y Controles , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Edad Gestacional , Humanos , Mutación INDEL/fisiología , Recién Nacido , Masculino , Polimorfismo Genético/fisiología , Síndrome de Dificultad Respiratoria del Recién Nacido/complicaciones , Síndrome de Dificultad Respiratoria del Recién Nacido/metabolismo , Taquipnea Transitoria del Recién Nacido/complicaciones , Taquipnea Transitoria del Recién Nacido/metabolismoRESUMEN
This study was conducted in order to assess the normal range of subarachnoid space width in healthy term newborns. A total of 230 healthy newborns were evaluated within the first 28 days of life. Measurements were correlated with body weight, height and head circumference. Mean measurements for falx-cortex and craniocortical widths and the correlations are given in tables. Subarachnoid space widths increased as weight, height and head circumference increased and the correlation was statistically significant.