ABSTRACT
Se informa el caso de un neonato que desarrolló encefalopatía en el transcurso de los primeros tres días de vida. Presentaba hipo persistente, que evolucionó a coma profundo 72 horas después de la admisión al hospital. Los parámetros de septicemia y el análisis del líquido cefalorraquídeo (LCR) fueron normales. Tras la evaluación metabòlica, se confirmó la presencia de hiperamoniemia e hipercitrulinemia. El índice de la concentración de LCR/glicina en plasma era normal. Esto no coincidió con nuestro diagnóstico inicial de hiperglicinemia no cetósica, que suele manifestarse con hipo. Se recomienda tener en cuenta la deficiencia de ácido argininosuccínico sintetasa (ASD por su sigla en inglés; citrulinemia) de inicio neonatal en el diagnóstico diferencial de encefalopatía asociada con hipo durante el período neonatal, lo que sugiere una enzimopatía congénita.
We report an infant who developed encephalopathy within the first 3 days of life. He had persistent hiccups that progressed to deep coma 72 hours after admission. The sepsis parameters and cerebrospinal fluid examination (CSF) were normal. The metabolic evaluation confirmed hyperammonemia, and hypercitrullinemia. The ratio of CSF/plasma glycine concentration was normal. This did not agree with our initial diagnosis of nonketotic hyperglycinemia where hiccups is present more often. Neonatal onset of argininosuccinic acid synthetase deficiency (ASD; citrullinemia) should be brought in mind in the differential diagnosis of encephalopathy in association with hiccups in the neonatal period suggesting inborn errors of metabolism.
Subject(s)
Humans , Infant, Newborn , Male , Citrullinemia/diagnosis , Citrullinemia/complications , Hiccup/etiologyABSTRACT
Se informa el caso de un neonato que desarrolló encefalopatía en el transcurso de los primeros tres días de vida. Presentaba hipo persistente, que evolucionó a coma profundo 72 horas después de la admisión al hospital. Los parámetros de septicemia y el análisis del líquido cefalorraquídeo (LCR) fueron normales. Tras la evaluación metabòlica, se confirmó la presencia de hiperamoniemia e hipercitrulinemia. El índice de la concentración de LCR/glicina en plasma era normal. Esto no coincidió con nuestro diagnóstico inicial de hiperglicinemia no cetósica, que suele manifestarse con hipo. Se recomienda tener en cuenta la deficiencia de ácido argininosuccínico sintetasa (ASD por su sigla en inglés; citrulinemia) de inicio neonatal en el diagnóstico diferencial de encefalopatía asociada con hipo durante el período neonatal, lo que sugiere una enzimopatía congénita.(AU)
We report an infant who developed encephalopathy within the first 3 days of life. He had persistent hiccups that progressed to deep coma 72 hours after admission. The sepsis parameters and cerebrospinal fluid examination (CSF) were normal. The metabolic evaluation confirmed hyperammonemia, and hypercitrullinemia. The ratio of CSF/plasma glycine concentration was normal. This did not agree with our initial diagnosis of nonketotic hyperglycinemia where hiccups is present more often. Neonatal onset of argininosuccinic acid synthetase deficiency (ASD; citrullinemia) should be brought in mind in the differential diagnosis of encephalopathy in association with hiccups in the neonatal period suggesting inborn errors of metabolism.(AU)
ABSTRACT
We report an infant who developed encephalopathy within the first 3 days of life. He had persistent hiccups that progressed to deep coma 72 hours after admission. The sepsis parameters and cerebrospinal fluid examination (CSF) were normal. The metabolic evaluation confirmed hyperammonemia, and hypercitrullinemia. The ratio of CSF/plasma glycine concentration was normal. This did not agree with our initial diagnosis of nonketotic hyperglycinemia where hiccups is present more often. Neonatal onset of argininosuccinic acid synthetase deficiency (ASD; citrullinemia) should be brought in mind in the differential diagnosis of encephalopathy in association with hiccups in the neonatal period suggesting inborn errors of metabolism.
Subject(s)
Citrullinemia/diagnosis , Citrullinemia/complications , Hiccup/etiology , Humans , Infant, Newborn , MaleABSTRACT
We report an infant who developed encephalopathy within the first 3 days of life. He had persistent hiccups that progressed to deep coma 72 hours after admission. The sepsis parameters and cerebrospinal fluid examination (CSF) were normal. The metabolic evaluation confirmed hyperammonemia, and hypercitrullinemia. The ratio of CSF/plasma glycine concentration was normal. This did not agree with our initial diagnosis of nonketotic hyperglycinemia where hiccups is present more often. Neonatal onset of argininosuccinic acid synthetase deficiency (ASD; citrullinemia) should be brought in mind in the differential diagnosis of encephalopathy in association with hiccups in the neonatal period suggesting inborn errors of metabolism.
ABSTRACT
BACKGROUND/AIM: To determine whether there is an association between platelet counts and patent ductus arteriosus (PDA) incidence and/or closure in preterm newborns. STUDY DESIGN AND SUBJECTS: Premature infants with hemodynamically significant PDA (n=154) and a control group without PDA (n=207) who were hospitalized in the NICU were retrospectively evaluated. Platelet counts and other platelet indices including mean platelet volume (MPV) and platelet distribution width (PDW) of the infants in both groups during the first 3 days of life were recorded. Ibuprofen was started in infants with hemodynamically significant PDA and echocardiography was repeated 48 h thereafter to assess the closure of ductus. RESULTS: Median gestational age and birth weight of the infants with PDA were 28 (range 26-29) weeks and 1060 (range 892-1250) g respectively. Platelet counts were significantly lower in the patient group than in the control group (p<0.001). Multivariate analysis including gestational age, presence of RDS, presence of thrombocytopenia and PDW showed that hemodynamically significant PDA was independently associated with platelet count <150,000 (OR=2.13, 95% CI 1.26-3.61; p=0.005), high PDW (>17) (OR=2.68, 95% CI 1.41-5.09; p=0.003) and the presence of RDS (OR=2.25, 95% CI 1.41-3.59; p=0.001). Baseline platelet counts of the infants in whom ductus closed or persisted after ibuprofen treatment were similar. CONCLUSIONS: PDA was associated with low platelet count and high PDW but not with other platelet indices in preterm infants. We could not show an association between platelet counts and persistence or closure after medical treatment.
Subject(s)
Ductus Arteriosus, Patent/blood , Infant, Premature, Diseases/blood , Ductus Arteriosus, Patent/epidemiology , Female , Humans , Infant, Newborn , Infant, Premature , Infant, Premature, Diseases/epidemiology , Male , Platelet CountABSTRACT
OBJECTIVE: Ovarian cysts compose most of the intraabdominal cysts in fetal period. Most of them regress spontaneously at intrauterine or postnatal period. The cysts that are complicated and do not regress are excised generally. METHODS: Here we report a case series that consists of four newborns having giant (≥ 10 cm) ovarian cysts. All of the patients were term infants and followed for ovarian cysts in intrauterine period. RESULTS: Patients were operated on 5, 11, 28, 47th days, respectively. Three patients had unilateral cysts (two right, one left) and one had bilateral cysts. One of the four patients had bilateral ovarian cysts, 100 × 95 mm in diameter on the left and 50 × 55 mm on the right, which was torsioned. CONCLUSION: The risk of complications is higher in bilateral cysts even they are smaller, and early surgical intervention should be done to these patients. During the operation of one of the patients, we detected the cyst at the opposite side that was shown by ultrasonography. Since the size of the mass is large, detecting the correct origin of the cyst is important for the selection of appropriate surgical approach.
