Apr 11, 1989 - At 34 weeks fetoscopy was performed with insertion of abdominal amniotic drains. These became displaced, and she was born two days later.
Downloaded from adc.bmj.com on July 16, 2011 - Published by group.bmj.com
Ciprofloxacin in neonatal Enterobacter cloacae septicaemia 1391 Ciprofloxacin penetrates tissues well and thera- antibiotics are ineffective. We would advise caution peutic concentrations in the cerebrospinal fluid have when considering its use, however, and suggest that been achieved even in subjects without inflammation it should be prescribed only in instances of proved of the meninges.5 Isaacs et al have already reported infection with multiresistant organisms. the successful treatment of ventriculitis caused by a multiresistant Pseudomonas aeruginosa strain.6 We thank Mr R Whitaker for organising and supervising sensitivity Concentrations of ciprofloxacin in the cerebrospinal testing to ciprofloxacin and Mrs S Longworth for typing this paper. fluid have been reported to be 40% of concentrations in serum in meningitis.5 In our patients 6070% of References peak plasma concentrations were achieved in the Modi N, Damjanovic V, Cooke RWI. Outbreak of cepahlocerebrospinal fluid-14 times the minimum inhibitory sporin resistant Enterobacter cloacae infection in a neonatal intensive care unit. Arch Dis Child 1987;62:148-51. concentration of the organism. The ventriculitis was 2 Ciprofloxacin-an important new antimicrobial. Drug Ther Bull effectively treated with intravenous ciprofloxacin. 1987;25:69-72. Unwanted effects of ciprofloxacin include damage 3 Chapman ST, Speller DCE, Reeves DS. Resistance to ciproto weight bearing joints, hepatic and renal impairfloxacin. Lancet 1985;ii:39. ment, interaction with DNA of lymphocytes and 4 Scully BE, Neu HC, Parry MF, Mandell W. Oral ciprofloxacin therapy of infections due to Pseudomonas aeruginosa. Lancet with theophylline. No side effects were observed in 1986;i:819-22. our patients. McLain JB, Rhoads J, Kroll G. Cerebrospinal fluid concenThe high mortality in this series was disappointtrations of ciprofloxacin in subjects with uninflamed meninges. J Antimicrob Chemother 1988;21:808-9. ing, although the delay between eradication of the D, Slack MPE, Wilkinson AR, Westwood AW. Successorganism and death suggested that death was not 6 Isaacs ful treatment of Pseudomonas ventriculitis with ciprofloxacin. J directly related to E cloacae infection. Despite the Antimicrob Chemother 1986;17:535-8. relatively late introduction of ciprofloxacin during the course of the infection the organism was Correspondence to Dr A M Weindling, Regional Neonatal eradicated in all cases. Intensive Care Unit, Liverpool Maternity Hospital, Oxford Street, With the benefit of this experience we would now Liverpool L7 7BN. use ciprofloxacin at a much earlier stage of the infective process, but only when our usual first line Accepted 11 April 1989
Fetal ascites: an unusual presentation of Niemann-Pick disease type C I K MACONOCHIE,* S CHONG,* G MIELI-VERGANI,* B D LAKE,t AND A P MOWAT* *Department of Child Health, King's College Hospital, and tDepartment of Histopathology, Institute of Child Health, London SUMMARY Two infants were seen with severe ascites detected before birth, a previously unreported presentation of Niemann-Pick disease type C. In the second infant no diagnostic storage cells were present in bone marrow. Confirmatory investigations were prompted by experience of the first case.
Niemann-Pick disease type C is a heterogeneous neurovisceral storage disorder inherited in an autosomal recessive fashion. A defect in cholesterol esterification has been identified, so that antenatal diagnosis is possible.'
Three presentations have been described. Some patients present with jaundice and hepatosplenomegaly in the first two months of life, most of whom become symptom free, though a few die of liver failure by the age of 6 months. Others have asymptomatic splenomegaly in the first six years of life, and yet others develop progressive neurological dysfunction or psychosis, with or without splenomegaly, between the ages of 2 and 59 years. Progressive neurological deterioration occurs in all cases, often causing death by the third decade. Diagnosis is suspected on identifying typical storage cells in bone marrow and confirmed by electron microscopy of neural tissue; in addition a laboratory test has recently been described.'
Downloaded from adc.bmj.com on July 16, 2011 - Published by group.bmj.com
1392 Archives of Disease in Childhood, 1989, 64 We present two cases with severe fetal ascites, insertion of abdominal amniotic drains. These which is a previously unreported presentation. became displaced, and she was born two days later weighing 2240 g, with pronounced hepatospleCase reports nomegaly, ascites, and respiratory difficulty. Jaundice developed on day 1, and bilirubin concenBoth were girls and were first born infants of tration reached a maximum of 400 [tmoUl (65% healthy, unrelated white parents without family conjugated) on day 13 when she was transferred to histories of inherited disease. In both, other causes this hospital. of fetal ascites and metabolic disorders associated Aspartate aminotransferase activity was 117 IU/l with liver disease in infancv were excluded by and prothrombin time 33 seconds (control 14 appropriate investigations.17 In both electron seconds). Alkaline phosphatase and y glutamicroscopy of rectal suction biopsy specimens myltransferase activities, and albumin concentrashowed pleomorphic lamellar cytoplasmic inclusions tions were normal. Bone marrow aspirate showed in neurones. Laboratory studies using cultured skin numerous vacuolated macrophages, and examinafibroblasts showed considerably decreased intra- tion of a liver biopsy specimen showed severe cellular esterification of exogenous non-lipoprotein parenchymal liver damage with extensive cell loss 3H cholesterol at 0-95% (case 1) and 2-5% (case 2) and pericellular fibrosis. No storage cells were of total cholesterol (normal range 7-13%). Intra- identified. Death from liver failure occurred at 19 cellular esterification of exogenous lipoprotein- days of age. derived cholesterol (which was tested only in case 2) was also low (165 pmol/l; normal range 1210-2910 Discussion pmol/l) (M Vanier, personal communication). Fetal or neonatal ascites has not previously been reported in Niemann-Pick disease type C, although CASE 1 it has been seen in other inherited storage disFetal ascites was detected ultrasonically at 18 weeks' orders.3 Although there is at present no treatment, gestation. At birth at 33 weeks' gestation the infant identification is essential for genetic counselling and weighed 1930 g and had pronounced hepatosple- antenatal diagnosis. The prognosis is grim compared nomegaly and ascites. Conjugated hyperbilirubi- with that of cryptogenic hepatitis of infancy.4 Bone naemia developed on day 2, reaching a maximum appearances led to the diagnosis in case 1, value of 282 mmol/I on day 4 and gradually marrow but were inconclusive in case 2. Suction rectal decreasing thereafter. and fibroblast culture were carried out only On day 39, when transferred to King's College biopsy because we had been alerted by the first case. For Hospital she had severe cachexia, respiratory diffipurposes the initial screening test at preculty, and gross ascites, and had not gained weight. practical sent must remain the presence of storage material in Serum bilirubin was 41 gmol/l (normal value
