Neuropathy in two cobalamin-deficient breast-fed infants of vegetarian mothers.

We describe the electrophysiological findings in 2 infants with deficient cobalamin intake. After normal development, psychomotor regression appeared after the 6th month, leading to severe hypotonia and apathy before the 12th month. Electrodiagnostic evaluation showed sensory neuropathy in both cases, associated with motor neuropathy in 1 case. Thus, in an acquired floppy infant syndrome, electrophysiological signs of peripheral neuropathy contributed to the diagnosis of a curable metabolic disorder.

[Diagnosis of phenylketonuria in a 35-year-old mother in relation to prenatal diagnosis of intrauterine growth retardation with microcephaly]. / Diagnostic de phénylcétonurie chez une mère âgée de 35 ans à l'occasion de la découverte anténatale d'un retard de croissance intra-utérin avec microcéphalie.

BACKGROUND: Some French pregnant women with phenylketonuria (PKU), born before 1978, have not been tested with the Guthrie method during the neonatal period. They have a risk of spontaneous abortion and their infants are often mentally retarded with microcephaly and/or congenital heart anomaly. CASE REPORT: A woman with a moderate mental retardation became pregnant at the age of 31 years. Her newborn had a severe intrauterine growth retardation with microcephaly and developed mental retardation. This mother became pregnant again 4 years later. Repeated fetal ultrasonography showed progressive growth retardation. Maternal blood phenylalanine concentration was 18 mg/100 mL. Therapeutic abortion at 27 weeks of gestational age showed a fetus with several abnormalities, particularly cardiovascular and cerebral. CONCLUSION: It is still possible to meet women with unrecognized atypical PKU. Fetus or infant born with unexplained growth retardation and microcephaly requires search for maternal PKU.

[Acute anemia induced by rupture of a luteal cyst, aggravated by the ingestion of antivitamin K]. / Anémie aiguë par rupture d'un kyste lutéal, aggravée par la prise d'antivitamine K.

A case of hemoperitoneum secondary to the rupture of an ovarian cyst is reported in a 14 1/2 year-old girl. The severity of the bleeding was explained by anticoagulant therapy given during the previous 3 weeks for laceration of ankle ligaments which necessitated surgery. In this age group, the differential diagnosis with a ruptured ectopic pregnancy had to be considered. The relative prevalence (10%) of complications associated with antivitamin K administration is discussed.

[An unusual cause of near-miss sudden death in infants: intermittent volvulus of the small intestine on the mesenterium commune]. / Une cause inhabituelle de mort subite manquée du nourrisson: le volvulus intermittent du grêle sur mésentère commun.

A 1 month-old girl presented with severe asphyxia during sleep. Her weight was the same as at birth. The day before the accident she had cried a great deal and had vomited her feeds. Small bowel volvulus was diagnosed. Surgical cure led to the disappearance of all symptoms with a one year follow-up. Episodes of asphyxia require detailed histories. Alkaline esophageal reflux may reveal an anatomic intestinal obstruction and lead to laryngospasm, identical to the one induced by acid reflux.

[Abscessed adrenal hematoma with arterial hypertension]. / Abcédation d'un hématome surrénal avec hypertension artérielle.

A neonate presented with anemia. Its relationship to bilateral adrenal hematoma was recognized only at one month of age, when hepatomegaly, inflammatory syndrome and hypertension associated with ultrasonographic findings suggested the diagnosis of right adrenal abscess with compression of the renal pedicle. The child underwent surgery at 6 weeks of age. Surgical drainage associated with antibiotic treatment led to recovery without sequelae. The authors consider the steps in the diagnosis of an abscessed hematoma in the presence of adrenal hematoma and the screening which may detect complications.

Breast milk jaundice: in vitro inhibition of rat liver bilirubin-uridine diphosphate glucuronyltransferase activity and Z protein-bromosulfophthalein binding by human breast milk.

Twenty-four samples of breast milk from nine mothers of infants suffering from breast milk jaundice were studied. Eight samples of milk from mothers of nonjaundiced infants, along with five formula milks enriched with polyunsaturated fatty acids, served as controls. Milks from mothers with jaundiced infants had no inhibitory effect when assayed immediately after thawing. However, after these milk samples were stores at 4 degrees, they strongly inhibited bilirubin conjugation (80.3% inhibition of uridine diphosphate glucuronyltransferase (UDPGT) activity) and bromosulfophthalein (BSP) binding to cytoplasmic Z protein (dye binding inhibited 82.1%). There was no effect on BSP binding to Y protein (see Table 1). Heating the milk to 56 degrees modified the results in the following manner; when the milk was heated immediately after thawing, no inhibitory effect was seen, even after storage for 96 hr. On the other hand, when the milk was first stored at 96 hr and then heated, it had the same inhibitory effects as the milks which were stored without heating. The present study shows that pathologic breast milk will inhibit BSP-Z protein binding only when stored under conditions that also cause the appearance of the capacity to inhibit bilirubin conjugation in vitro, as well as causing the liberation of nonesterified fatty acids. Thus, the appearance of this inhibitory capacity in vitro seems linked to the lipolytic activity particular to pathologic milks.

PIP: 24 samples of breastmilk from 9 mothers of infants suffering from breastmilk jaundice were studied. 8 samples of milk from mothers of nonjaundiced infants, along with 5 formula milks enriched with polyunsaturated fatty acids, served as controls. Milks from mothers with jaundiced infants had no inhibitory effect when assayed immediately after thawing. However, after these milk samples were stored at 4 degrees, they strongly inhibited bilirubin conjugation (80.3% inhibition of uridine diphosphate glucuronyltransferase activity) and (BSP) bromosulfophthalein binding to cytoplasmic Z protein (dye binding inhibited 82.1%). There was no effect on BSP binding to Y protein (intable). Heating the milk to 56 degrees modified the results in the following manner; when the milk was heated immediately after thawing, no inhibitory effect was seen, even after storage for 96 hours. On the other hand, when the milk was 1st stored for 96 hours and then heated, it had the same inhibitory effects as the milks which were stored without heating. The present study shows that pathologic breast milk will inhibit BSP-Z protein binding only when stored under conditions that also cause the appearance of the capacity to inhibit bilirubin conjugation in vitro, as well as causing the liberation of nonesterified fatty acids. Thus, the appearance of this inhibitory capacity in vitro seems linked to the lipolytic activity particular to pathologic milks.