1/77. Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy.We have studied 5 infants with persistent severe diarrhea from birth and marked abnormalities of absorption associated with failure to thrive leading to death in 4 infants. Three had siblings who died and a sibling of a 4th is ill at present, all with a similar illness; 2 were the products of consanguinous marriages. Exhaustive investigation failed to identify a recognized disease entity in any patient. steatorrhea, sugar malabsorption, dehydration, and acidosis were severe in all patients, whatever the diet fed. Total parenteral nutrition was used, but excessive stool water and electrolyte losses persisted even when nothing was fed by mouth. There was no evidence of a hematological or consistent immunological defect in any infant and no abnormalities of intestinal hormones were noted. In the duodenal mucosa of all infants we saw similar abnormalities characterized by villus atrophy, crypt hypoplasia without an increase in mitoses or inflammatory cell infiltrate in the lamina propria and in villus enterocytes absence of a brush border, increase in lysosome-like inclusions, and autophagocytosis. In 3 infants studied by marker perfusion of the proximal jejunum we found abnormal glucose absorption and a blunted response of Na absorption to actively transported nonelectrolytes; in 2 there was net secretion of Na and H2O in the basal state. Our patients evidently suffered from a congenital enteropathy which caused profound defects in their capacity to assimilate nutrients. The similar structural lesion seen in the small intestinal epithelium of all of our cases undoubtedly contributed to their compromised intestinal function, but the pathogenesis of this disorder, if indeed it is a single disease, remains obscure.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
2/77. Optic disc edema in neonatal onset multisystem inflammatory disease (NOMID).PURPOSE: To inform ophthalmologists about neonatal onset multisystem inflammatory disease (NOMID), a rare condition with ophthalmologic manifestations. methods: We report a single case of NOMID with optic disc edema. RESULTS: A 28-month-old child with neonatal rash, arthropathy, central nervous system (CNS) involvement, and optic disc edema was diagnosed with NOMID. CONCLUSIONS: The finding of posterior uveitis or optic disc edema in a child with juvenile onset arthritis may allow the differentiation of NOMID from juvenile rheumatoid arthritis.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
3/77. Neonatal brain tissue embolism in the lung.A brain tissue embolus was observed in a major pulmonary artery in the right lung, in a neonate who died from intracranial haemorhage 36 hours after delivery. This is the fifth documented case in a neonate and the only one in whom survival had occurred beyond one hour. brain tissue emboli in the pulmonary circulation occur very rarely; it has been described in adults and children with head injuries. In newborn infants with severe congenital malformations of the central nervous system, brain tissue has been found growing in the lungs; the possibility of this being the result of prenatal brain trauma with embolization has been raised. In newborn infants, pulmonary brain tissue embolism as a result of birth trauma has been reported only very rarely; as far as the authors are aware, only four such cases have been documented. In view of the rarity of this condition, it was thought that the present case merited reporting.- - - - - - - - - - ranking = 8.9347919104175keywords = artery (Clic here for more details about this article) |
4/77. Utility of early single photon emission computed tomography (SPECT) in neonatal gelastic epilepsy associated with hypothalamic hamartoma.Gelastic epilepsy, or laughing seizures, is a rare seizure manifestation often associated with hypothalamic hamartoma. This seizure type is well described in older children and adults, but has only rarely been reported in neonates, oftentimes recognized in retrospect when the children are older. We report a child diagnosed at 3 months of age with a large hypothalamic mass after evaluation for spells occurring since birth. The spells were characterized by bursts of hyperpnea, followed by repeated "cooing" respirations, giggling, and smiling. These spells were recognized soon after birth in the delivery room, and occurred at 15-20 minute intervals. They did not interrupt feeding and occurred during sleep. On referral to our center, the patient was noted to be thriving, with normal medical and neurologic examinations except for his spells. The laboratory evaluation was normal, as were endocrine and ophthalmologic evaluations. neuroimaging was performed, with magnetic resonance imaging demonstrating a large 2.8-cm isodense, nonenhancing hypothalamic mass. Electroencephalogram was abnormal, demonstrating bi-frontal sharp and spike-wave discharges. Video-EEG did not demonstrate ictal discharges associated with the patient's spells. Single photon emission computed tomography (SPECT) demonstrated dramatic ictal uptake in the area of the tumor, with normalization during the interictal phase. Partial excision of hamartomatous tissue has minimally improved the spells. In conclusion, this patient manifested an unusual, early presentation of a rare seizure type. SPECT scanning confirmed the intrinsic epileptogenesis of the hamartoma, further justifying a surgical approach to such patients. Early surgical intervention is probably indicated in an attempt to minimize or prevent the cognitive and behavioral sequelae commonly seen with this seizure type.- - - - - - - - - - ranking = 4keywords = single (Clic here for more details about this article) |
5/77. Neonatal cerebral ischaemia with elevated maternal and infant anticardiolipin antibodies.A baby girl born by elective lower segment caesarean section was found to have left-sided focal seizures at 48 hours after birth. Her mother had previously had a neonatal death at 26 weeks' gestation and another child born at 32 weeks' gestation had a congenital right hemiplegia with a left middle cerebral artery infarct on CT scan. The mother had raised anticardiolipin IgG antibodies at the time of delivery of her second child, with no thrombotic symptoms. Therefore, during this pregnancy, she had been treated with low molecular weight heparin and aspirin. The baby's mother had raised IgG and IgM anticardiolipin antibodies and the baby had IgG anticardiolipin antibodies at the upper range of normal 4 days after delivery. The seizures were controlled with phenobarbitone and phenytoin. CT and MRI scans showed evidence of cerebral ischaemia. A repeat MRI scan at 4 months of age was normal, anticonvulsants were discontinued, and her latest neurological examination at 5 months was normal.- - - - - - - - - - ranking = 8.9347919104175keywords = artery (Clic here for more details about this article) |
6/77. Fetal and neonatal arrhythmia in one of the twins--a case history.There are a lot of publications about fetal arrhythmia in singletons, but up to now there are no published data about fetal arrhythmia in multiple pregnancies. In the present study a case history of fetal and neonatal arrhythmia in one of twins from two mothers treated with betamimetic agents due to imminent preterm labor is reported and discussed. A first case with fetal bradycardia due to complete A-V block had congenital cordis abnormalities (VSD and PFO). The second case with prenatal detected extrasystoles had normal heart anatomy. digoxin was administered to the mother, in the aim to treat fetal arrhythmia without success, because the baby had postnatal bradycardia. After hospitalisation in cardiology Department the described cases were successfully treated. In both cases the second twins were without neonatal arrhythmia and with no structural heart abnormalities. We summarise that in situation of detection fetal arrhythmia the complexity of the problems experienced may warrant early referral to a tertiary centre where the overall management of the mother, fetus and neonate, may be undertaken.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
7/77. Effectiveness of antiretroviral therapy initiated before the age of 2 months in infants vertically infected with human immunodeficiency virus type 1.The effectiveness and tolerance of antiretroviral therapy with a combination of three reverse transcriptase inhibitors starting at the time of diagnosis (before 2 months of age) was evaluated in four infants with vertically acquired hiv-1 infection. plasma hiv-1 rna levels ranged from 230,000 to 1,000,000 copies/ml before onset of triple therapy and fell below 50 copies/ml at 12 to 33 weeks of life in three of the infants. These three children, currently aged 158, 105 and 72 weeks, are asymptomatic, have normal lymphocyte subsets and no hypergammaglobulinaemia. Two children experienced a profound reduction in the amount of proviral dna detected in blood and have become hiv-1 seronegative, although one of them has had hiv-1 rna detectable on a single occasion at 114 weeks of life (303 copies/ml). Transient interruption of therapy resulted in a rapid but reversible increase in hiv-1 rna levels in the third child and was associated with the production of HIV-specific antibodies. The fourth child whose parents were not compliant to treatment and follow-up had a poor virological response. CONCLUSION: Early treatment of vertically acquired human immunodeficiency virus type 1 infection with three reverse transcriptase inhibitors is well tolerated and can result in such suppression of viral replication that specific antibodies are not produced, that proviral dna falls to the lower limit of quantitation in blood and that all clinical and immunological manifestations of infection are avoided. Parental adhesion is crucial to the effectiveness of therapy.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
8/77. Neonatal alloimmune thrombocytopenia due to anti-Nak(a).BACKGROUND: The accurate diagnosis of neonatal alloimmune thrombocytopenia is essential in the effective treatment of potentially serious bleeding in neonates. CASE REPORT: Reported here is a case of a full-term female baby who was delivered by vacuum extraction from a gravida 1 para 1 healthy mother. She presented with generalized petechiae and bilateral cephalhematoma, which she had had since birth. At 7 hours of life, she had an upper gastrointestinal hemorrhage and was found to have severe anemia and marked thrombo-cytopenia. Coagulation screening tests were normal. The diagnosis of neonatal alloimmune thrombocytopenia was suspected, and maternal serum was collected for further study. The baby was treated with a single dose of hydrocortisone (10 mg/kg) and IVIG (400 mg/kg) while waiting for irradiated platelets from her mother. After 30 mL of a transfusion of maternal platelets, the baby's platelet count rose dramatically, from 15,000 to 162,000 per microL, and it remained stable at that level. She was discharged on the 10th hospital day in good condition. During the follow-up period of 8 months, her growth and development were satisfactorily normal, as well as her platelet count. A high-titered platelet antibody was detected in the maternal serum by use of a solid phase platelet adherence technique. RESULTS: The specificity of the platelet antibody was identified as anti-Nak(a) by the mixed passive hemagglutination test method. CONCLUSION: These findings suggested a diagnosis of NAIT caused by anti-Nak(a).- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
9/77. A case of localized persistent interstitial pulmonary emphysema.Interstitial pulmonary emphysema is a well-documented complication of assisted mechanical ventilation in premature infants with respiratory distress syndrome. Localized persistent interstitial pulmonary emphysema (LPIPE) confined to a single lobe was incidentally presented in a 4-day-old female infant. This patient was a normal full-term baby with no respiratory distress symptom and no experience of assisted mechanical ventilation. Chest radiograph showed radiolucent area in right lower lobe zone, which needed differential diagnosis from other congenital lesions such as congenital cystic adenomatoid malformation and congenital lobar emphysema. CT scan showed irregular-shaped air cystic spaces and pathologically, cystic walls primarily consisted of compressed lung parenchyma and loose connective tissue intermittently lined by multinucleated foreign body giant cells.- - - - - - - - - - ranking = 1keywords = single (Clic here for more details about this article) |
10/77. Unusual features of pulmonary sling.patients with an anomalously placed left pulmonary artery ("pulmonary sling") typically have signs and symptoms of respiratory obstruction in the neonatal period. Experience with four previously unreported patients confirmed this. Typical radiographic features include unilateral air trapping (usually on the right side), an abnormal position of the esophagus, and a soft tissue mass interposed between the trachea and esophagus. Less common findings include a normal esophageal position, left-side air trapping, and delayed egress of neonatal pulmonary fluid. Both typical and atypical features were seen; the more unusual aspects are emphasized.- - - - - - - - - - ranking = 8.9347919104175keywords = artery (Clic here for more details about this article) |
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