Monosomy 10qter: a new case.

A new case of terminal deletion 10q26-qter is described. The phenotypic features are compatible with those of the previously reported cases. Deafness is reported for the first time.

[Ehlers-Danlos syndrome and pregnancy. Apropos of a case].

Ehlers-Danlos Syndrome is a hereditary dysplasia of connective tissue with an abnormality in collagen synthesis. The syndrome consists of increased elasticity and fragility of the skin, increased laxity of the ligaments of the joints and fragility of the blood vessels. It is rarely associated with pregnancy but when it is several problems arise which are demonstrated in our case.

[Ulcero-necrotizing enterocolitis: the role of cytomegalovirus. Apropos of a case].

The authors report a case of Wilson-Mikity syndrome in a preterm newborn, that was followed on the 28th day of life by a necrotizing enterocolitis with colic stenosis. The finding of cytomegalic cells on the pathologic examination of the intestinal lesions, the presence of the virus on direct examination of a tissue sample, the elevated IgG levels and the presence of IgM demonstrated a cytomegalovirus infection. The authors discuss the role of this virus in the pathogenesis of the affection, either as directly responsible for the enterocolitis or as a secondary colonization of previous lesions.

A critical comparison of the history of sudden-death infants and infants hospitalised for near-miss for SIDS.

To determine whether significant historical differences distinguish the near-miss for Sudden Infant Death from the infants who died of SIDS, we analysed the histories and clinical data from two groups of infants seen in our University Hospital and from collaborative research group. The data were obtained with the use of a standardised questionnaire and consultation of all available medical data. Sixty-five infants were identified as near-miss for SIDS after they had suffered a severe cardiorespiratory incident during sleep for which no cause could be found despite a complete medical examination.

[Intracranial hemorrhage in infants born at term].

In 5 full-term neonates presenting with signs of acute neonatal brain damage, intracranial hemorrhage was proven by CT-scan performed within a few days after birth. Status epilepticus occurred soon after birth as shown on EEG. Prognosis was most often very poor.

Neonatal pattern of adrenergic metabolites in urine of small for gestational age and preterm infants.

Catecholamines (DA, NE, E), methoxyamines (MT, NMN, MN), DOPA and DOPAC were studied in urine of term small for gestational age infants (SGA) and preterm with appropriate birthweights for gestational age (PT) during the first ten days of life. Results were compared to values obtained for full term infants (FT). As a whole no deficit in urine catecholamines was observed in either group of SGA and PT neonates suggesting that capacities to synthesize catecholamines are already developed at birth.

Age-related changes in catecholamine metabolites of human urine from birth to adulthood.

Catecholamines (dopamine [DA], norepinephrine [NE], epinephrine [E]), methoxyamines (3-methoxytyramine [MT], normetanephrine [NMN], metanephrine [MN]), DOPA, and acidic metabolites (3,4-dihydroxyphenylacetic acid [DOPAC], vanilmandelic acid [VMA]) were determined in human urines from one day of age to adulthood, in order to investigate sympatho-adrenal development during life. All adrenergic compounds are present in neonate urines on the first day of life, but their postnatal evolution is quite different according to the nature of metabolites. Daily E, MN and VMA amounts remain low until the 10th month of life; daily NE, MT and DOPA levels increase progressively, but, in contrast, NMN amounts are already high in the neonatal period and increase only beyond the fourth year of age.

Immunodeficiency diseases. I. T-lymphocyte precursors and T-lymphocyte differentiation in partial Di George syndrome.

Immunological and pathological studies in a case of partial Di George syndrome revealed an absence of parathyroids, a major hypoplasia of thymus but a relatively moderate decrease in peripheral T-lymphocyte numbers and functions. After in vitro incubation with normal thymus extracts, a normal proportion of bone marrow cells was induced to differentiate into cells with characteristics of T lymphocytes, thus establishing the presence of T-cell precursors in the patient's bone marrow.

[Congenital adrenal hypoplasia of cytomegalic type. Recessive, sex-linked form. Apropos of 3 cases].

Three personal cases, and the cases of literature of congenital adrenal hypoplasia with cytomegaly allow an histological definition. Clinical and biological findings are described. In 2 cases, a diffused hypertrophy of the cells responsible for corticotrope or melanotrope secretion was discovered; it confirmed the peripheral adrenal origin of the condition, as well as high plasmatic level of ACTH, in the third case.