[Severe nutritional deficiencies in young infants with inappropriate plant milk consumption]. / Conséquences nutritionnelles de l'utilisation de boissons végétales inadaptées chez les nourrissons de moins d'un an.

Over the past few years, we have observed increasing consumption of inappropriate plant milks as an alternative to infant milk formula. Some families believe that foods labeled as natural are the most healthy and an appropriate nutritional choice. However, their composition does not respect European recommendations. They are always hypocaloric and protein, vitamin, and mineral concentrations are inadequate. The aim of this study was to report severe nutritional complications after inappropriate plant milk consumption. Between 2008 and 2011, we studied severe nutritional deficiencies caused by consumption of plant milks bought in health food stores or online shops. Infants were identified in our centers and examined through medical history, physical examination, and laboratory testing. Nine cases of infants aged from 4 to 14 months were observed. In all cases, these milks were used as an alternative to milk formulas for supposed cow's milk allergy. At diagnosis, four patients were aged 6 months or less. They had received plant milk exclusively for 1-3 months. The beverages consumed were rice, soya, almond and sweet chestnut milks. In three cases, infants presented severe protein-calorie malnutrition with substantial hypoalbuminemia (<20 g/L) and diffuse edema. In the other cases, the nutritional disorders were revealed by a refractory status epilepticus related to severe hypocalcemia (one case), growth arrest of both height and weight secondary to insufficient caloric intake (five cases), and severe cutaneous involvement (one case). Five children had severe iron deficiency anemia (<70 g/L), three children had a very low 25-hydroxy vitamin D level (nutritional rickets), and two had severe hyponatremia (<130 mmoL/L). Milk alternative beverages expose infants to severe nutritional deficiencies. Serious complications can occur. Early, exclusive, and extended use is riskier. These diseases are preventable, and parental education should be provided. Statutory measures forbidding their use in young infants should be organized to slow down the progress of this social trend.

[SPECT-identified hypoperfusion of the left temporomesial structures in a Kleine-Levin syndrome]. / Hypoperfusion temporomésiale gauche en TEMP dans un syndrome de Kleine-Levin.

A 13-year-old boy developed typical features of Kleine-Levin syndrome. Routine investigations and MRI were normal. SPECT, performed both during an attack and during a symptom-fee period, demonstrated clear hypoperfusion of the left mesiotemporal structures. The possible implications of this finding are discussed.

Acrocentric chromosome polymorphisms: beware of cryptic translocations.

Cryptic translocations may escape diagnosis, especially when they implicate chromosomal regions that are known to be polymorphic in the human karyotype. We describe a case of postnatal diagnosis of Beckwith-Wiedemann syndrome (BWS) due to an unbalanced translocation that had not been diagnosed in the fetal karyotype. This first cytogenetic analysis revealed that one chromosome 14 presented as a common acrocentric short arm polymorphism. Further analyses after birth, using C-banding, NOR staining and fluorescence in situ hybridization (FISH) with telomeric probes, revealed that it was the result of an unbalanced de novo t(11;14)(p15;p13) translocation leading to partial 11p trisomy and to BWS. Prenatal cytogenetic management of such apparently inoffensive chromosome markers is discussed.

Identification and characterization of a de novo partial trisomy 10p by comparative genomic hybridization (CGH).

We report the characterization of a de novo unbalanced chromosome rearrangement by comparative genomic hybridization (CGH) in a 15-day-old child with hypotonia and dysmorphia. We describe the combined use of CGH and fluorescence in situ hybridization (FISH) to identify the origin of the additional chromosomal material on the short arm of chromosome 6. Investigation with FISH revealed that the excess material was not derived from chromosome 6. Identification of unknown unbalanced aberrations that could not be identified by traditional cytogenetics procedures is possible by CGH analysis. Visual analysis of digital images from CGH-metaphase spreads revealed a predominantly green signal on the telomeric region of chromosome 10p. After quantitative digital ratio imaging of 10 CGH-metaphase spreads, a region of gain was found in the chromosome band 10p14-pter. The CGH finding was confirmed by FISH analysis, using a whole chromosome 10 paint probe. These results show the usefulness of CGH for a rapid characterization of de novo unbalanced translocation, unidentifiable by karyotype alone.