Allergic diseases have been linked to genetic and/or environmental factors, such as antibiotic use, westernized high fat and low fiber diet, which lead to early intestinal dysbiosis, and account for the rise in allergy prevalence, especially in western countries. Allergic diseases have shown reduced microbial diversity, including fewer lactobacilli and bifidobacteria, within the neonatal microbiota, before the onset of atopic diseases. Raised interest in microbiota manipulating strategies to restore the microbial balance for atopic disease prevention, through prebiotics, probiotics, or synbiotics supplementation, has been reported. We reviewed and discussed the role of prebiotics and/or probiotics supplementation for allergy prevention in infants. We searched PubMed and the Cochrane Database using keywords relating to “allergy” OR “allergic disorders,” “prevention” AND “prebiotics” OR “probiotics” OR “synbiotics.” We limited our evaluation to papers of English language including children aged 0–2 years old. Different products or strains used, different period of intervention, duration of supplementation, has hampered the draw of definitive conclusions on the clinical impact of probiotics and/or prebiotics for prevention of allergic diseases in infants, except for atopic dermatitis in infants at high-risk. This preventive effect on eczema in high-risk infants is supported by clear evidence for probiotics but only moderate evidence for prebiotic supplementation. However, the optimal prebiotic or strain of probiotic, dose, duration, and timing of intervention remains uncertain. Particularly, a combined pre- and post-natal intervention appeared of stronger benefit, although the definition of the optimal intervention starting time during gestation, the timing, and duration in the post-natal period, as well as the best target population, are still an unmet need.
Lysosomal storage disorders (LSDs) are a heterogeneous group of inborn errors of metabolism caused by inherited deficiencies of any of the lysosomal functions, leading to the accumulation of undegraded substrates in multiple tissues and organs. Two-third of LSDs involves the central nervous system, thus representing the most common cause of pediatric neurodegenerative diseases. Substantial progress has been made in our understanding of the pathophysiology of LSDs, leading to newly targeted therapeutic options. Enzyme replacement therapy (ERT) is currently available for seven LSDs including Gaucher disease, Fabry disease, Pompe disease, and mucopolysaccharidosis (MPS) I (Hurler disease), II (Hunter disease), IV A (Morquio A), and VI (Maroteaux?Lamy disease). ERT reduces lysosomal storage, thus slowing or sometimes avoiding progressive visceral damage altogether. However, ERT is unable to cross the blood?brain barrier (BBB), thus lacking efficacy on neurological manifestations. In patients with MPS I (Hurler disease) under 2 years of age and in selected patients with other LSD, hematopoietic stem cell transplantation is indicated. To bypass the BBB, other approaches, using small molecules are currently being tested and include substrate reduction therapy, which decreases the amount of substrate (currently available for type 1 Gaucher disease and for Niemann?Pick type C disease) and pharmacological chaperones, which enhance the residual activity of the mutant enzyme.
We present a case of an 11-month-old girl who was referred to our unit for an erythematous rash that appeared on the face and extremities. Personal and family history was not relevant. Laboratory tests were normal. During recovery, diameter and colour intensity of the cutaneous lesions increased, but after some weeks, lesions had a self-limited resolution without any treatment. Based on clinical and laboratory findings, a diagnosis of acute hemorrhagic edema of infancy (AHEI) was made. AHEI is a rare cutaneous leukocytoclastic vasculitis that usually affects children aged between 4 and 24 months. Etiology is unknown but almost of 75% of cases are preceded by infectious episodes, vaccinations or use of medications. In contrast to the dramatic cutaneous eruption, clinical conditions are usually optimal. Classically, AHEI is characterized by a triad of symptoms: fever, edema and purpura. Skin lesions are erythematous, annular, medallion-like, purpuric plaques that have a rapid onset and appear on the face and extremities, sparing trunk and mucosal membranes. Initially interpreted as a variant of Henoch-Schönlein purpura, now it is considered a distinct disease. In the majority of cases the disease is benign and self-limited without a visceral involvement, so a conservative approach is most often chosen.PubMed Abstract | Publisher Full Text 3.Homme JL, Block JM: Acute hemorrhagic edema of infancy and common mimics. Am J Emerg Med. 2016; 34(5): 936.e3-6. PubMed Abstract | Publisher Full Text 4. Cunha DF, Darcie AL, Benevides GN, et al.: Acute Hemorrhagic Edema of Infancy: an unusual diagnosis for the general pediatrician. Autopsy Case Rep. 2015; 5(3): 37-41. PubMed Abstract | Publisher Full Text | Free Full Text 5. Fotis L, Nikorelou S, Lariou MS, et al.: Acute hemorrhagic edema of infancy: a frightening but benign disease. Clin Pediatr (Phila). 2012; 51(4): 391-3. PubMed Abstract | Publisher Full Text 6. Miorin E, Meneghini A, Don B, et al.: Edema emorragico acuto del lattante, descrizione di un caso clinico e revisione della letteratura. Medico e Bambino pagine elettroniche. 2002; 5(3). Reference Source 7. Alhammadi AH, Adel A, Hendaus MA: Acute hemorrhagic edema of infancy: a worrisome presentation, but benign course. Clin Cosmet Investig Dermatol. 2013; 6: 197-9. PubMed Abstract | Publisher Full Text | Free Full Text 8. Krause I, Lazarov A, Rachmel A, et al.: Acute haemorrhagic oedema of infancy, a benign variant of leucocytoclastic vasculitis. Acta Paediatr. 1996; 85(1): 114-7. PubMed Abstract | Publisher Full Text 9. Savino F, Lupica MM, Tarasco V, et al.: Acute hemorrhagic edema of infancy: a troubling cutaneous presentation with a self-limiting course. Pediatr Dermatol. 2013; 30(6): e149-52. PubMed Abstract | Publisher Full Text 10. Tagliabue A, Bettinelli A, Cogliati F: Edema acuto emorragico della prima infanzia (porpora di seidlmayer). Medico e Bambino pagine elettroniche. 2009; 12(6). Reference Source
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