Fetal akinesia sequence caused by nemaline myopathy.

Nine patients with the characteristic signs of fetal akinesia sequence (polyhydramnion, multiple joint contractures and lung hypoplasia) are described. In 8 of the 9 patients nemaline myopathy could be demonstrated with histology. The ninth patient presented the same phenotype as his 4 affected siblings in whom the nemaline myopathy could be histologically proven. Seven of the patients belonged to 2 families; the other 2 patients were isolated cases. In one fetal case nemaline myopathy was documented at week 22 of gestation. These observations demonstrate that nemaline myopathy can cause the fetal akinesia sequence, with onset of first symptoms as early as the beginning of the second trimester of pregnancy.

Prospective analysis of 192 consecutive cholecystectomies: a comparative study between laparoscopy and laparotomy.

The hospital records of all the patients who underwent cholecystectomy because of specific biliary symptoms, between October 1990 and March 1993, were prospectively analyzed. The series consisted of 192 patients (159 women and 33 men), the mean age was 56 years and the mean body mass index was 26. Indication for surgery was uncomplicated gallstones in 113, common bile duct stones in 28 and cholecystitis in 51 patients. In those groups, respectively 94 (83%), 16 (57%) and 23 (45%) patients had a laparoscopic cholecystectomy. In total, laparoscopic cholecystectomy was successfully performed in 127 (95%) of the 133 patients in whom it was attempted. When compared with laparotomy, laparoscopic cholecystectomy was associated with shorter operative time: 88 +/- 41 min. (Mean +/- SD) versus 132 +/- 64 min. (p < 0,001), shorter postoperative hospital stay: 5 +/- 3 days versus 13 +/- 7 days (p < 0.001) and reduced cost of hospitalization: 103.301 +/- 51.062 BF versus 186.931 +/- 113.651 BF (p < 0.001). We noted an equivalent perioperative morbidity incidence in the two groups. The advantages of laparoscopy compared to laparotomy were recorded whatever the indication for cholecystectomy was. Therefore, with the increasing experience of surgeons and the improving quality of laparoscopic instruments, we think that laparoscopy can be considered for all patients requiring cholecystectomy.

Fetal akinesia sequence caused by glycogenosis type VII.

We report on the autopsy study of a premature boy with multiple joint contractures who died soon after birth of severe lung hypoplasia. Muscle histology showed PAS-positive vacuoles, and electronmicroscopy revealed massive subsarcolemmal and intermyofibrillar accumulation of glycogen. Biochemical analysis of fresh-frozen muscle tissue disclosed increased glycogen content and a complete lack of phosphofructokinase (PFK) activity. The brain showed focal cerebral and diffuse cerebellar white matter gliosis, and patchy loss of internal granular and Purkinje cells in the cerebellar cortex. The spinal cord was normal. This report describes the first case of PFK deficiency, presenting as a lethal fetal akinesia sequence.

MCA/MR syndrome with features of Hallermann-Streiff syndrome and 4q deficiency/14q duplication.

In this report we present the clinical history and findings in a female newborn with 4q deficiency/14q duplication, the unbalanced product of a paternal t(4;14)(q33;q32). The clinical symptoms and signs observed in this child up to the age of 14 months were most compatible with the diagnosis of Hallermann-Streiff syndrome.

Cohen syndrome: fertility in a female patient.

In this report we describe fertility in an adult female with Cohen syndrome. She gave birth to a son, now 1.5 years old, with discrete facial stigmata and slight psychomotor retardation.

Prenatal indomethacin toxicity in one member of monozygous twins; a case report.

A mother, treated with indomethacin because of premature labour, delivered a pair of monozygous twins at a gestational age of 33 weeks. Because of foetal transfusion syndrome, the first twin was polycythaemic and the second anaemic. The latter was also hydropic, suffered from anuria requiring peritoneal dialysis, and showed signs of severe pulmonary hypertension, probably as a consequence of intra-uterine constriction of the ductus arteriosus. The possible interaction between foetal transfusion syndrome, anuria, premature constriction of the ductus arteriosus and the prenatal administration of indomethacin is discussed. In general, indomethacin should cautiously be used as a tocolytic agent.

Interstitial deletion of the short arm of chromosome 4. A phenotype distinct from the Wolf-Hirschhorn syndrome.

In this paper we report a 3-month-old male newborn with marked hypotonia and an interstitial deletion of the short arm of chromosome 4 but with preservation of the 4p16 band (karyotype 46,XY,del(4)(pter----p15.3::p14----cen----qter). In contrast to patients with a pure 4p16 deletion this patient presented dysmorphic stigmata which were much more discrete than those found in the typical Wolf-Hirschhorn syndrome.

Bartter syndrome in two siblings--antenatal and neonatal observations.

Bartter syndrome was diagnosed in two siblings born to healthy unrelated parents. Each pregnancy was complicated by severe polyhydramnios. The first child was treated with indomethacin from the age of then weeks on. At the age of six years he is doing very well: height is 109.9 cm (P3) and weight 17.8 (P3). Studies of the amniotic fluid during the mother's second pregnancy showed high chloride concentrations (112, 117, and 119 mEq/l), normal levels of sodium, potassium, calcium and creatinine and low prostaglandin E2 (5.0-22.3 pg/ml) and F2 alpha (36-71.7 pg/ml) concentrations. Severe chloride and sodium wasting after birth resulted in hypochloremia, hyponatremia and dehydration. Concomitantly an immediate and striking increase in urinary PGE2 excretion from 45 to 1022 pg/ml was observed. Indomethacin therapy had to be stopped after one week when necrotising enterocolitis developed.

Abnormal prostacyclin metabolism in the hemolytic uremic syndrome: equivocal effect of prostacyclin infusions.

In a child with the hemolytic uremic syndrome, plasma 6 keto-prostaglandin F1 alpha levels remained undetectable throughout the acute phase of the disease. The patient's plasma failed to stimulate prostacyclin production by "exhausted" rat aorta rings. In vitro study of the patient's vessels indicated that they retained the capacity to synthesize prostacyclin from exogenous arachidonic acid but that their endogenous arachidonic acid stores were either depleted or non-available. The response to repeated infusion of exogenous prostacyclin was equivocal, suggesting that abnormal prostacyclin metabolism in the hemolytic uremic syndrome may not be the only factor in its pathogenesis.