1/189. brain dysgenesis in Cornelia de lange syndrome.The neuropathological findings in a neonatal case of Cornelia de lange syndrome (CDLS) were described. Two different types of lesions were revealed in the affected brain. The first type was classified as perinatal hypoxic-ischemic brain damage, associated with cyanotic congenital heart anomalies: subarachnoideal, intraventricular, and parenchymal hemorrhage, and multiple necrosis in the cerebral white matter, basal ganglia, internal capsule, thalamus, mammillary bodies and dentate nucleus. This type may be non-specific and common in premature babies dying soon after birth. On the other hand, the second type was classified as congenital dysgenesis of the brain: microbrachycephaly, immature or simple convolution pattern of the cerebral gyri, thickened leptomeninges, persistent subpial granule cells, hypoplasia of the anterior thalamic nuclei, neurohypophysis, lateral geniculate body, cerebral peduncle, ventral pons and cerebellar internal granular layer, and heterotopic cell nests in the cerebellar white matter. This type may indicate that the maturation of the brain can be disturbed in the fetal period, particularly in the mid-gestational period. In conclusion, pathognomonic or specific changes of CDLS might be absent in the brain. However, congenital dysgenesis of the brain, especially that found in the diencephalon and the cortico-ponto-cerebellar system, may constitute morphologic evidence explaining the severe growth retardation and neurological abnormalities in CDLS.- - - - - - - - - - ranking = 1keywords = ill (Clic here for more details about this article) |
2/189. chorioamnionitis with intact membranes caused by capnocytophaga sputigena.We report a case of chorioamnionitis with intact membranes caused by capnocytophaga sputigena. The pregnant woman was hospitalised in preterm labor without fever, neither tenderness, just regular contractions. In spite of the tocolitic treatment the patient gave birth to a girl at 29 weeks' gestation, weighing 1220 g and transferred to intensive care. The newborn had clinical and biological signs of infections and was initially treated by ampicillin, cephalosporin and metronidazol. capnocytophaga sputigena was found on membranes, cord, amniotic fluid and placenta. It was also identified in maternal endocervix culture. Histologic findings showed a focal chorioamnionitis. This was the fourteenth reported case of infection due to capnocytophaga species occurring in pregnancy. All the cases are reviewed.- - - - - - - - - - ranking = 1keywords = ill (Clic here for more details about this article) |
3/189. transillumination for the diagnosis of pneumoperitoneum.transillumination of the abdomen with a cold fibreoptic light source was used for the rapid diagnosis of pneumoperitoneum in a sick premature infant with necrotising enterocolitis. The diagnosis was confirmed at laparotomy. The neonate survived the surgical procedure of resection and anastomosis of the perforated gut. Although additional diagnostic investigations such as x-rays and paracentesis of the abdomen were also positive in this case, transillumination of the abdomen proved to be a useful tool for early diagnosis. transillumination thus is a valuable modality for early diagnosis of pneumoperitoneum, especially where facilities for in-house x-rays are not available.- - - - - - - - - - ranking = 275.26636281225keywords = sick, ill (Clic here for more details about this article) |
4/189. Disseminated intravascular meconium in a newborn with meconium peritonitis.A 3-day-old premature infant with meconium peritonitis, periventricular leukomalacia, and pulmonary hypertension died with respiratory insufficiency. An autopsy disclosed intravascular squamous cells in the lungs, brain, liver, pancreas, and kidneys. Numerous pulmonary capillaries and arterioles were occluded by squamous cells, accounting for pulmonary hypertension. brain parenchyma surrounding occluded cerebral vessels showed infarct and gliosis. A mediastinal lymph node filled with squamous cells alluded to the mechanism by which these cells from the peritoneal cavity likely entered the bloodstream--namely, via diaphragmatic pores connecting with lymphatics. Thus, disseminated intravascular meconium rarely may complicate meconium peritonitis and have devastating consequences.- - - - - - - - - - ranking = 2keywords = ill (Clic here for more details about this article) |
5/189. pituitary gland gumma in congenital syphilis after failed maternal treatment: a case report.A preterm, very low birth weight infant was born to a mother with early latent syphilis who was treated 10 days and 3 days before delivery with 2.4 mU of benzathine penicillin. The infant had clinical, laboratory, and radiographic abnormalities consistent with congenital syphilis, ie, a Venereal disease research Laboratory test titer that was fourfold greater than was the maternal titer, hepatosplenomegaly, abnormal liver function tests, pneumonitis, osteochondritis of the long bones, and cerebrospinal fluid (CSF) examination showing a reactive Venereal disease research Laboratory test, pleocytosis, and elevated protein content. The infant died on the third day of life, and an autopsy revealed an evolving gumma of the anterior pituitary. immunoglobulin m immunoblotting of serum and CSF was positive, and polymerase chain reaction detected treponema pallidum dna in endotracheal aspirate and CSF. This case highlights the pathologic abnormalities observed in congenital syphilis and focuses on the rare finding of an evolving anterior pituitary gumma. Furthermore, it documents the failure of maternal syphilis treatment during the last 4 weeks of pregnancy to cure fetal infection and supports the recommendation that all infants born to mothers with syphilis treated during the last 4 weeks of pregnancy should receive penicillin therapy.- - - - - - - - - - ranking = 2keywords = ill (Clic here for more details about this article) |
6/189. Multiple atresias in a low-birth-weight twin.This report describes a case of 16 small bowel atresias in a twin who was born at 31 weeks' gestation, weighing 1,690 g. All atresias and intestinal segments of 5 cm or less in length were resected, resulting in nine primary anastomoses, preserving 75% (107 cm) of his initial small bowel length. The baby went home on full oral feedings after 10 weeks. Multiple anastomoses in the low-birth-weight neonate can be tolerated with the functional benefit of maximal bowel length. The time taken to tolerate feedings appears to be independent of the number of anastomoses. Vascular anastomoses associated with monochorionic twinning may place both fetuses at risk of intestinal atresia in the event of an ischemic insult, either concurrently or with the demise of one affecting the other. Prenatal ultrasound scan appears to be useful for monitoring the evolution of intestinal atresia. However, the risks of extreme prematurity preclude the delivery of the affected baby at the time of initial diagnosis, and as yet it is unknown whether early delivery will alter the number, type, or prognosis of multiple atresias.- - - - - - - - - - ranking = 1keywords = ill (Clic here for more details about this article) |
7/189. Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.BACKGROUND: tyrosine hydroxylase (TH) catalyzes the rate-limiting step in the biosynthesis of the catecholamines dopamine, norepinephrine, and epinephrine. Recently, mutations were identified in cases of autosomal recessive dopa-responsive dystonia and infantile parkinsonism. We describe a patient with severe symptoms and a new missense mutation in TH. methods: Relevant metabolites in urine and cerebrospinal fluid were measured by HPLC with fluorometric and electrochemical detection. All exons of the TH gene were amplified by PCR and subjected to single-strand conformation polymorphism analysis. Amplimers displaying aberrant migration patterns were analyzed by dna sequence analysis. RESULTS: The patient presented with severe axial hypotonia, hypokinesia, reduced facial mimicry, ptosis, and oculogyric crises from infancy. The major metabolite of dopamine, homovanillic acid, was undetectable in the patient's cerebrospinal fluid. A low dose of L-dopa produced substantial biochemical but limited clinical improvement. dna sequencing revealed a homozygous 1076G-->T missense mutation in exon 10 of the TH gene. The mutation was confirmed with restriction enzyme analysis. It was not present in 100 control alleles. Secondary structure prediction based on Chou-Fasman calculations showed an abnormal secondary structure of the mutant protein. CONCLUSIONS: We describe a new missense mutation (1076G-->T, C359F) in the TH gene. The transversion is present in all known splice variants of the enzyme. It produces more severe clinical and biochemical manifestations than previously described in TH-deficient cases. Our findings extend the clinical and the biochemical phenotype of genetically demonstrated TH deficiency.- - - - - - - - - - ranking = 1keywords = ill (Clic here for more details about this article) |
8/189. haemophilus parainfluenzae sepsis in a very low birth weight premature infant: a case report and review of the literature.haemophilus parainfluenzae is an unusual cause of invasive bacterial disease and is particularly uncommon as a reported etiology of neonatal sepsis in current large published series. We describe a seriously ill, very low birth weight (VLBW) infant with documented early onset sepsis caused by H. parainfluenzae. We compare our case with those published previously and contrast the clinical presentation of infection in our patient to that of common bacterial pathogens causing neonatal sepsis. Our review suggests many common factors in the pathogenesis of early onset infection by H. parainfluenzae.- - - - - - - - - - ranking = 1keywords = ill (Clic here for more details about this article) |
9/189. Moral and ethical dilemmas in critically ill newborns: a 20-year follow-up survey of massachusetts pediatricians.OBJECTIVE: To replicate the 1987 survey, referring to the original 1977 study, regarding opinions about treatment for critically ill neonates. STUDY DESIGN: A long-term follow-up survey of American Academy of pediatrics massachusetts membership, maintaining the 1987 instrument, was initiated. RESULTS: A notable demographic shift in respondents from a majority of male practitioners in 1977 (89.6%), to 73% in 1987, to more equal numbers of men and women in 1997 (55% and 45%, respectively; p < 0.001; 1987 vs 1997) was apparent. Pediatricians' attitude changes over the 20-year period were relatively modest and were statistically associated with active medical intervention. In 1997, 75% of respondents rejected review committees as mediators, a marked change from 1987. Regardless of healthcare maintenance organization affiliations, 95% indicated that restrictive fiscal policies would not affect decision-making. CONCLUSION: This study indicates stability and consensus in pediatricians' attitudes toward active intervention for critically ill neonates compared with 1977 and 1987 surveys and reveals several claims to professional autonomy.- - - - - - - - - - ranking = 6keywords = ill (Clic here for more details about this article) |
10/189. stenotrophomonas maltophilia pneumonia in a premature infant.Stenotrophomonas (xanthomonas) maltophilia is an aerobic, non-fermentative, gram-negative bacillus that is generally considered an opportunistic pathogen. Infections due to S. maltophilia have become increasingly important in the hospital environment. patients compromised by debilitating illnesses, surgical procedures or indwelling vascular catheters are most prone to S. maltophilia infections. To our knowledge, we report the first case of S. maltophilia pneumonia in a premature infant of 31 weeks gestational age. Although the therapy of choice for severe infections caused by S. maltophilia remains to be decided, this patient was successfully treated by amikacin.- - - - - - - - - - ranking = 2.1699784199617keywords = ill, illness (Clic here for more details about this article) |
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