A case of de novo interstitial deletion of chromosome 9(p12p13)

The present paper describes a girl with a small de novo deletion of chromosome 9(p12p13). This deletion has not been published previously. The deleted fragment is clearly outside the region involved in the so-called deletion 9p syndrome. The patient had mild dysmorphic features and feeding problems during the first weeks of life, but is now developing well. Because of the lack of severe clinical features in this patient, we speculate that the deletion may be prevalent in other patients who have no clinical indication for chromosome investigation.     

Body composition at birth of growth-retarded newborn infants demonstrating catch-up growth in the first year of life

Total body, extracellular, and intracellular water volume and solids, determined at birth in a group of newborn infants small for date (n = 10) who demonstrated catch-up growth in the first year of life, were compared to similar measurements in newborn infants appropriate for date (n = 11). No significant differences with regard to body water compartment volumes and solids could be found between the 2 groups. It is concluded that intrauterine growth retardation in infants who are capable of catching up in growth after birth is the result of a proportional reduction of the daily increments in fetal solids and body water.     

Painful, swollen hand after carpal tunnel surgery

A 45-year-old man presented at the rheumatology outpatient department with a painful swollen hand after carpal tunnel surgery. This is a complication in approximately 2% of all patients due to complex regional pain syndrome.     

Composition of postnatal weight loss and subsequent weight gain in small for dates newborn infants

Using a sucrose and deuterium oxide dilution technique body water compartments and solids were serially determined in small for dates newborn infants at birth, at the moment of maximum postnatal weight loss and on recovery of birth weight. Compositions of weight loss and subsequent weight gain were calculated from the differences in body water compartments and solids between the first and the second and the second and the third study, respectively. Birth weight of the infants was 1.55 +/- 0.46 kg (mean +/- SD) (N = 7), gestational age was 35.7 +/- 3.1 weeks. Results show that despite changes in extra- and intracellular water volumes during weight loss, total body water volume and solids per unit of body weight remained remarkably constant throughout the study. Compositions of weight loss and subsequent weight gain were similar to body composition. This suggests that in small for dates newborn infants postnatal weight loss is the result of catabolism rather than dehydration and subsequent weight gain is the result of growth rather than rehydration.     

Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors

A 7-year-old boy demonstrating hepatosplenomegaly, mild anaemia, mild mental retardation, yellow-brown teeth and dark red urine had excessively elevated levels of urinary delta-aminolevulinic acid, porphobilinogen and uroporphyrin. Furthermore hepta-, hexa-, penta- and copro(I)porphyrins were highly increased in urine. This pattern of porphyrin precursor and metabolite excretion is characteristic of acute intermittent porphyria. The decreased copro(III)/copro(I+III) ratio, normally not found in acute intermittent porphyria, is discussed. The porphobilinogen deaminase activity in red cells was decreased to 2-4%. Mutation analysis revealed a novel homozygous L81P mutation in exon 6 of the porphobilinogen deaminase gene. The father and mother, shown to be gene carriers of the same mutation, are asymptomatic and have normal urinary porphyrin precursor and metabolite excretion.