[Neonatal short bowel syndrome. Etiology, pathogenesis and treatment].
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Humans↗
Biomedical subjects
P Merlob
Publications and source records attributed to P Merlob.
Congenital smooth muscle hamartoma. Prevalence, clinical findings, and follow-up in 15 patients.
Cogenital smooth muscle hamartoma is a congenital skin lesion characterized by proliferation of bundles of smooth muscle within the reticular dermis. We report on a group of 15 children with this lesion, confirmed by skin biopsy specimen, its prevalence, the occurrence of associated anomalies, and long- term follow-up. To our knowledge, this is the largest group of patients with this lesion described in the literature. The estimated prevalence is about 1:2600 live births with slight male predominance. The lesion is most frequent in the lumbosacral area (67% [10/15]) and a positive pseudo-Darier's sign is present in 80% (12/15) of patients. During the follow-up period of up to 7 years, the lesions enlarged slightly but became less prominent. No malignant transformation was observed.
Female↗
New findings in a patient with Dubowitz syndrome: velopharyngeal insufficiency and hypoparathyroidism.
We report on a boy with Dubowitz syndrome and hypoparathyroidism from which he recovered, only to redevelop it at 6 years. He also had a submucous cleft palate and cineradiographic studies showed velopharyngeal insufficiency. Although a submucous cleft palate is a well-known manifestation of Dubowitz syndrome, velopharyngeal insufficiency has not been previously described.
Abnormalities, Multiple↗
Congenital hereditary hypothyroidism--prenatal diagnosis and treatment.
Intrauterine diagnosis of congenital hypothyroidism was established on the basis of TSH concentration in amniotic fluid in the 22nd week of gestation for the offspring of a couple both known to have an iodide organification defect. Prenatal treatment consisted of intramniotic injections of 500 mcg Na-1-thyroxine, which was administered from the first amniocentesis until one week before delivery. Following delivery, the diagnosis was confirmed by the elevated level of TSH, 60.5 uU/ml, and a gradual decrease of fT4 to 0.8 ng/ml. Regular substitution therapy was commenced on the third day of life. The normal shape and location of the thyroid gland was demonstrated by Technetium scintiscan. At 18 months the infant revealed no significant deviation from normalcy in growth or mental capacity. This experience indicates that testing of amniotic fluid for TSH in the 22nd week of gestation can be diagnostic for congenital primary hypothyroidism. Furthermore, it is suggested that the treatment approach described is warranted in all cases in which there is a high risk of congenital primary hypothyroidism.
Amniotic Fluid↗
Thoraco-abdominal enteric duplication with meningocele, skeletal anomalies and dextrocardia.
We describe an infant with an enteric thoraco-abdominal duplication arising in the proximal jejunum and associated with a dorsal meningocele, dextrocardia, agenesis of ribs and hypoplasia of the left arm. Diagnosis was reached post-operatively and the infant died of cytomegalovirus pneumonitis. Results of the postmortem examination are presented. Awareness of this rare malformation is required in order to reach a timely diagnosis and to plan a suitable operative approach.
Abnormalities, Multiple↗
Necrotizing enterocolitis after intravenous immunoglobulin treatment for neonatal isoimmune thrombocytopenia.
A male neonate of 38 weeks' gestation with isoimmune neonatal thrombocytopenia treated with high dose intravenous immunoglobulin (IVIG) developed necrotizing enterocolitis (NEC) at 3 days of age. The known maternal and neonatal risk factors for the development of this disease were excluded. The association between high dose IVIG and the appearance of thrombotic events might be another aetiological factor for occurrence of NEC in a newborn infant.
Enterocolitis, Pseudomembranous↗
Neonatal polycythaemia: effect of partial dilutional exchange transfusion with human albumin on whole blood viscosity.
Haematocrit (HCT) and viscosity of whole blood were measured in ten polycythaemic hyperviscous newborn infants both before and after dilutional partial exchange transfusion with 5% albumin. This was performed in order to evaluate the effect on the lowering of HCT and whole blood viscosity. Mean umbilical HCT values decreased from 68.7% before, to 54.4% post transfusion. This decrease in HCT and viscosity was highly significant (P less than 0.001). Safety and lack of complications make human albumin solution superior to human plasma for exchange transfusion in neonatal polycythaemia.
Blood Proteins↗
Pregnancy in a homozygous familial hypercholesterolemic patient treated with long-term plasma exchange.
We describe the first pregnancy in a homozygous familial hypercholesterolemic woman who started plasma exchange therapy 3 years before she became pregnant. We especially studied the effects of plasma exchange on lipid profile, uteroplacental circulation, and pregnancy course.
Cholesterol↗
Possible association between acetazolamide administration during pregnancy and metabolic disorders in the newborn.
Development of metabolic acidosis, hypocalcemia and hypomagnesemia in a preterm infant whose mother was treated with acetazolamide throughout pregnancy is described. These neonatal metabolic alterations possibly related to acetazolamide administration in pregnancy have not been previously described in the literature. The metabolic acidosis was transient and resolved spontaneously despite breast feeding and continued administration of acetazolamide to the mother. Hypocalcemia and hypomagnesemia resolved quickly with appropriate treatment with calcium gluconate and magnesium sulphate, respectively. At follow-up at ages 1, 3 and 8 months, the baby showed mild hypertonicity of the lower limbs requiring physiotherapy.
Acetazolamide↗
The relative contribution of birth weight and gestational age to physical traits of newborn infants.
The present study establishes anthropometric standards for newborn infants, born between 26-41 weeks of gestational age. The measurement of 10 standard anthropometric traits was made within the first 72 hours of life in 224 preterm (26-36 weeks) and 190 term (37-41 weeks) infants. Multiple regression analysis was carried out for each of these anthropometric traits (dependent variables) on gestational age, birth weight and sex (independent variables). It was found that the prediction of several traits, namely, body length, body mass index, body surface area, interocular diameter, ear length and palm length, can be done solely via the information on birth weight; cephalic index is better predicted on the basis of gestational age, while for the prediction of such cranial traits as the circumference, length and breadth of head, both birth weight and gestational age are desirable.
Birth Weight↗
Citrobacter diversus lung abscess in a preterm infant.
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Citrobacter↗
Time trends (1980-1987) of ten selected informative morphogenetic variants in a newborn population.
The annual prevalence rates of ten selected informative morphogenetic variants (IMVs) were studied in 31,194 newborn infants over a period of 8 years (1980-1987). Two of them (preauricular sinus and ocular hypertelorism) revealed a highly significant decrease by logistic regression analysis. The other eight presented a stable pattern or small fluctuations which did not reach statistical significance. These data may serve as valuable baseline rates for monitoring IMVs in a specific newborn population. Their potential informative value as indicators of altered morphogenesis and their power for monitoring programs of environmental teratogenicity should be carefully verified.
Congenital Abnormalities↗
Neonatal ABO incompatibility. Complicated by hemoglobinuria and acute renal failure.
The authors present two infants with isoimmune hemolytic disease due to ABO incompatibility complicated by massive hemoglobinuria and secondary acute renal failure. This represents an incidence of 0.36% of all neonates with ABO hemolytic disease in the author's newborn population. Only two patients have been reported previously to have similar complications. Analysis of data of these four infants revealed the clinical characteristics of this complication of ABO incompatibility: 1) very low frequency; 2) early onset of hemoglobinuria (first voided urine) and of acute renal failure (first 2 days of life); 3) lack of correlation between the clinical presentation of hemolytic disease and appearance and severity of renal failure; 4) complete recovery of renal functions following intravenous fluid administration; and 5) normal renal radiologic investigations.
ABO Blood-Group System↗
New chromosome aberration: duplication of a large part of chromosome 4q and partial deletion of chromosome 1q.
We describe a preterm female infant with multiple anomalies who has a duplication of a large part of 4q and partial deletion of chromosome 1q. Her karyotype was interpreted to be 46,XX,-1,+der(1),t(1;4) (q44;q23 or 24)mat. She is the first patient with an unbalanced translocation involving chromosomes 4 and 1. There is a substantial amount of concordance between the phenotypic features of this patient and those described in the context of partial deletion 1q. The extensive duplication of 4q has no dominant clinical effects in the present infant. These facts support the general concept of much more deleterious effects of deletions versus duplications in human species.
Abnormalities, Multiple↗
The prevalence of high insertion of scrotum, hydrocele and mobile testis in the newborn infant (36-42 weeks gestation).
The prevalence of some minor abnormalities of the male genitalia was studied in 271 boys born over a period of 2 months. The scrotal insertion on the ventral side of the penis was determined in an objective manner by measuring the ratio of the ventral and dorsal length of the unstretched penis. A scrotal insertion ratio of less than 0.48 defined high insertion of the scrotum which was found in 2.7% of our newborn infants. This anatomical finding has an important clinical significance for the performance of early circumcision. The prevalence of hydrocele in all male newborn infants was 57.9%. Extravaginal (communicating) type was present in 86% of all infants, intravaginal (noncommunicating) in 9.5%, while both types of hydrocele in the same neonate was observed in 4.5%. The relatively high frequency of mobile testes (22%) is of interest. The natural history of this entity is not fully understood and the question of follow-up remains open.
Anthropometry↗
Agenesis of corpus callosum associated with double urinary collecting system, trigonocephaly and other minor anomalies: a new association.
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Abnormalities, Multiple↗