Posterior Reversible Encephalopathy Syndrome in infants and young children.

AIM: The aim of this study was to describe the characteristics of Posterior Reversible Encephalopathy Syndrome (PRES) in infants and young children (<6 years) and to compare them with the older pediatric population affected by PRES. METHODS: we retrospectively reviewed records of 111 children (0-17 years) diagnosed with PRES from 2000 to 2018 in 6 referral pediatric hospitals in Italy. The clinical, radiological and EEG features, as well as intensive care unit (ICU) admission rate and outcome of children aged <6 years were compared to those of older children (6-17 years). Factors associated with ICU admission in the whole pediatric cohort with PRES were also evaluated. RESULTS: Twenty-nine patients younger than 6 years (26%) were enrolled with a median age at onset of PRES of 4 years (range: 6 months-5 years). Epileptic seizures were the most frequent presentation at the disease onset (27/29 patients). Status epilepticus (SE) was observed in 21/29 patients: in detail, 11 developed convulsive SE and 10 presented nonconvulsive SE (NCSE). SE was more frequent in children <6 years compared with older children (72% vs 45%) as well as NCSE (35% vs 10%). Seventeen children aged <6 years required ICU admission. Prevalence of ICU admissions was higher within younger population compared to older (59% vs 37%). In the whole study population SE was significantly associated with ICU admission (p = 0.001). CONCLUSIONS: PRES in children < 6 years differs from older children in clinical presentation suggesting a more severe presentation at younger age.

Bone status in genetic syndromes: a review.

More and more data seem to indicate the presence of an increasing number of syndromes and genetic diseases characterized by impaired bone mass and quality. Meanwhile, the improvement of etiopathogenetic knowledge and the employment of more adequate treatments have generated a significant increase in survival related to these syndromes and diseases. It is thus important to identify and treat bone impairment in these patients in order to assure a better quality of life. This review provides an updated overview of bone pathophysiology and characteristics in patients with Down, Turner, Klinefelter, Marfan, Williams, Prader-Willi, Noonan, and 22q11 deletions syndrome. In addition, some options for the treatment of the bone status impairment in these patients will be briefly discussed.

Hydrocortisone malabsorption due to polyethylene glycols (Macrogol 3350) in a girl with congenital adrenal insufficiency.

BACKGROUND: Primary adrenal insufficiency is relatively rare in children and, if unrecognized, may present with cardiovascular collapse, making it a potentially life-threatening entity. CASE PRESENTATION: The proposita, 11 months old of age, was admitted for lethargy and severe dehydration. Blood pressure was 62/38 mm Hg, and biochemical measurements showed hyponatraemia, hypochloraemia, hyperkalaemia, and metabolic acidaemia. Renin activity was 1484 µU/mL; cortisol, 1.03 µg/dL (normal, 5-25 µg/dL); and corticotropin (ACTH), 4832 ng/L (normal, 9-52 ng/L). Adrenal deficiency was diagnosed, and replacement therapy with glucocorticoids and mineralocorticoids was initiated. After 40 days, ACTH was 797 ng/L. During follow-up, the patient started taking macrogol twice daily for constipation and experienced a significant increase in ACTH (3262 ng/L), which dropped to 648 ng/L when macrogol was stopped. After arbitrary reintroduction of macrogol, the child presented with hypoglycaemia, lethargy, weakness, and hypotonia; ACTH was 3145 ng/L. After again stopping macrogol, her ACTH was near normalized (323 ng/L). CONCLUSION: Hydrocortisone malabsorption may be caused by macrogol use. Because chronic constipation is frequently reported in children, the possibility that macrogol contributes to adrenal crisis should be taken in account.

Bone health in children and adolescents: the available imaging techniques.

Many clinical conditions affecting children can be associated with a loss of bone mass and quality, leading to an increased risk of fracture over the life. Actually, different techniques are available to assess bone density and/or bone quality, but their employment in children and adolescents requires the acknowledgement of their characteristics and reference values, as well as of age, sex and pubertal stage of the patient. In this paper, the main densitometric techniques are described, and the principal conditions potentially affecting bone health in young people are indicated, with the intention of providing a small guide to prevent fractures in people at risk.

Bone metabolism in children and adolescents: main characteristics of the determinants of peak bone mass.

The remodelling process of bone acted by osteoblastic and osteoclastic cells allows the tissue to maintain its integrity and mechanical properties. Systemic factors, such as hormonal status, nutrition, physical inactivity, exposure to smoking, alcohol, or particular drugs, as well as a local variation in the load, can influence bone turnover, and consequently, bone mass. In this paper, physical and biochemical factors are described, which are crucially important during the period of growth, i.e. childhood and adolescence, for the construction of a healthy bone.