ABSTRACT
We report on two sisters with facial anomalies, protein-losing enteropathy, and intestinal lymphangiectasia consistent with the diagnosis of Hennekam syndrome. Both patients had a number of other anomalies not previously described in this autosomal recessive disorder, i.e., primary hypothyroidism, hypertrophic pyloric stenosis, and an early fatal outcome. These cases support the autosomal recessive transmission and the expansion of the phenotype of the Hennekam syndrome.
Subject(s)
Abnormalities, Multiple/genetics , Abnormalities, Multiple/mortality , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/pathology , Face/abnormalities , Face/pathology , Family Health , Female , Genes, Recessive , Humans , Hypothyroidism/genetics , Hypothyroidism/mortality , Hypothyroidism/pathology , Infant , Intestines/abnormalities , Intestines/pathology , Phenotype , Protein-Losing Enteropathies/genetics , Protein-Losing Enteropathies/mortality , Protein-Losing Enteropathies/pathology , Pyloric Stenosis/genetics , Pyloric Stenosis/mortality , Pyloric Stenosis/pathology , SyndromeABSTRACT
BACKGROUND: Disseminated fungal infections are a major problem in high risk neonates. Conventional antifungal agents are often unsatisfactory and have a high incidence of severe adverse effects. METHODS: We administered liposomal encapsulated amphotericin B (AmBisome), which is an alternative to conventional amphotericin B, to 40 preterm (mean birth weight, 1090 +/- 313.6 g; mean gestational age, 28.35 +/- 2.13 weeks) and 4 full term (mean birth weight, 3080 +/- 118 g; mean gestational age, 39 +/- 0.7 weeks) newborn infants with a severe fungal infection. RESULTS: Candida albicans was the most frequent fungus isolated (70%). The duration of intravenous AmBisome therapy ranged from 7 to 49 days; the cumulative dose ranged from 7 to 138.8 mg/kg (median, 45.2 mg/kg). Administration of AmBisome was effective in 72.7% of patients; 5 of 6 cases of meningitis also recovered; 63.6% of 33 very low birth weight infants survived. No side effects were observed. CONCLUSIONS: To our knowledge this is the largest study of the treatment of neonates with liposomal amphotericin B, and the results confirm its effectiveness and safety. However, randomized clinical trials are required to establish the most effective administration protocol for AmBisome, i.e. the starting dosage, the maximum effective dosage and the cumulative dosage, and to verify whether the preparation should be associated with another antifungal agent.
