Roberta Onesimo

A multicentre retrospective study of 66 Italian children with food protein-induced enterocolitis syndrome: different management for different phenotypes

Food Protein‐Induced Enterocolitis Syndrome (FPIES) is a non‐IgE‐mediated paediatric disorder triggered by the ingestion of specific food proteins. Many features of this syndrome are not yet well defined.

Specific oral tolerance induction (SOTI) in pediatric age: clinical research or just routine practice?

Miceli Sopo S, Onesimo R, Giorgio V, Fundarò C. Specific oral tolerance induction (SOTI) in pediatric age: Clinical research or just routine practice?
Pediatr Allergy Immunol 2010: 21: e446–e449.
© 2009 John Wiley & Sons A/S

Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions

Deletions of the short arm of chromosome 9 are associated with two distinct clinical entities. Small telomeric 9p24.3 deletions cause genital anomalies in male subjects, ranging from disorder of gonadal sex to genital differentiation anomalies, while large terminal or interstitial deletions result in 9p‐malformation syndrome phenotype. The critical region for non‐syndromic 46,XY sex reversal was assigned to a 1 Mb interval of chromosome 9p, extending from the telomere to the DMRT genes cluster. The 9p‐syndrome was assigned to bands 9p22.3p24.1, but a phenotypic map has not been established for this condition, probably because of the lack of detailed molecular and/or phenotypic characterization, as well as frequent involvement of additional chromosome rearrangements. Here, we describe a unique patient with a small isolated 9p terminal deletion, characterized by array‐CGH and FISH, who shows a complex phenotype with multiple physical anomalies, resembling the 9p‐syndrome, disorder of sex development with gonadoblastoma, congenital heart defect and epilepsy. The observed deletion includes the 46,XY sex‐reversal critical region, excluding the region so far associated with the 9p‐syndrome. Genotype–phenotype correlations are tentatively established comparing our patient to seven other previously reported males with isolated terminal 9p deletions, finely defined at a molecular level. Our observations expand the 9p deletion clinical spectrum, and add significantly to the definition of a 9p‐syndrome critical region.

Congenital immunodeficiency in an individual with Wiedemann–Steiner syndrome due to a novel missense mutation in KMT2A

Wiedemann–Steiner Syndrome (WSS) is an autosomal dominant disorder characterized by hypertrichosis, short stature, intellectual disability, developmental delay, and facial dysmorphism. Since the original reports by Wiedemann and co‐workers, and Steiner and Marques, only a few cases have been described. Recently, the clinical variability of the disorder has more precisely been characterized by Jones and co‐workers, who also identified heterozygous KMT2A mutations as the molecular defect underlying this condition. Here, we report on a boy with a complex phenotype overlapping WSS but exhibiting epilepsy, feeding difficulties, microcephaly, and congenital immunodeficiency with low levels of immunoglobulins as additional features. Whole exome sequencing allowed identifying a previously unreported de novo KMT2A missense mutation affecting the DNA binding domain of the methyltransferase. This finding expands the clinical phenotype associated with KMT2A mutations to include immunodeficiency and epilepsy as clinically relevant features for this disorder.

Food-dependent exercise-induced anaphylaxis (FDEIA) by nectarine in a paediatric patient with weakly positive nectarine prick-by-prick and negative specific IgE to Pru p 3

Food-dependent exercise-induced anaphylaxis (FDEIA) is characterised by the onset of anaphylaxis during (or soon after) exercise preceded by ingestion of a food allergen. In FDEIA, both food allergens and exercise are independently tolerated. This syndrome has been associated with wheat, seafood, peanut, egg, milk, vegetables and fruits. Rosaceae fruits may also be involved. There are two major clinical patterns of allergy involved with this fruit family. One is the oral allergy syndrome (OAS) caused by sensitisation to Bet v 1 -a homologous protein in patients with birch pollens allergyand/or caused by sensitisation to profilin. The other one is associated with sensitisation to lipid transfer proteins (LTP), and may cause both OAS and systemic reactions -as FDEIA -and is often observed in patients living in the Mediterranean area. We report a paediatric case of FDEIA induced by nectarine (a variety of peach), with undetectable serum specific IgE to peach LTP (Pru p 3). A 14-year-old boy, with a history of seasonal allergic rhinitis caused by both grass and cypress pollens, experienced an episode of FDEIA during an intense exercise after eating Rosaceae fruits. In August, during a break of an athletic race, he ate two nectarines with peel and after a few minutes he started running again and immediately experienced bilateral ocular oedema, nasal obstruction and ocular and nasal itching. Before this episode, the boy was regularly eating nectarines with peel, even if he never performed physical exercises after eating this fruit. Skin prick tests (SPT) with commercial peach extract and prick-by-prick (PP) with peach (pulp and peel) were performed two weeks later, and had uncertain outcome (mean wheal diameter 2 mm). Since then, the boy no longer eats Rosaceae fruits and kept doing sports (about four times a week) without any adverse reaction. We met the boy for the first time in October, when nectarine was not a seasonal fruit. So we were not able to perform PP with fresh fruit at that time, and we performed PP in the next summer.

Understanding Growth Failure in Costello Syndrome: Increased Resting Energy Expenditure

Costello syndrome is a rare multisystem disorder caused by mutations in the proto-oncogene HRAS. Failure to thrive is one of its cardinal clinical features. This study documents that individuals with Costello syndrome have increased resting energy expenditure. We speculate this could be one of the potential mechanisms causing failure to thrive.

The re-emergence of dengue virus in non-endemic countries: a case series

BackgroundDengue has been designated a major international public health problem by the World Health Organization. It is endemic in most tropical and sub-tropical countries, which are also popular tourist destinations. Travelers are at significant risk of acquiring the disease and also contribute to its spread to non-endemic countries where the vector is present. Children represent a particular susceptible category, since they have a higher risk than adults of developing severe dengue.Case presentationWe describe 3 cases of imported dengue fever in Italy in three children (two born in the Philippines and one of Bangladeshi ethnicity) who acquired dengue fever during a recent travel to Southeast Asia, initially not-recognized because of the low index of suspicion of physicians not working in dengue endemic areas. Clinical presentations, differential diagnosis and management of these children are presented and discussed.ConclusionsDue to global urbanization and increased air travel, it is nowadays important that physicians who practice outside of traditionally dengue endemic areas are adept at the recognition of potentially fatal reemerging infectious diseases such as dengue.

Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.

Auriculo‐Condylar Syndrome (ACS) is a craniofacial malformation syndrome characterized by external ear anomalies, hypoplasia of the mandibular condyle, temporomandibular joint abnormalities, micrognathia, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. The clinical diagnosis is usually suggested by the pathognomonic ear appearance (“question mark ear”), consisting of a variable degree of clefting between the helix and earlobe. The genetic mechanisms underlying ACS have recently been identified. Both autosomal dominant and recessive inheritance of mutations in phospholipase C, beta 4 (PLCB4) and endothelin 1 (EDN1) have been reported along with autosomal dominant mutations in guanine nucleotide‐binding protein (G protein) α inhibiting activity polypeptide 3 (GNAI3). We report 6 years of follow‐up of a child with a clinical phenotype consistent with ACS due to a homozygous frameshift mutation in PLCB4. The baby presented feeding difficulties associated with failure to thrive and a complex sleep‐related respiratory disorder, characterized by central and obstructive apnoeas. Our observations of this case further delineate the phenotype of ACS associated with autosomal recessive PLCB4 loss‐of‐function mutations, underscoring gastrointestinal dysfunction and severe sleep‐related breathing abnormalities as additional features when compared to patients with heterozygous mutations with a presumed dominant negative effect.

Is heel prick as safe as we think

Purulent lymphadenitis is rare in newborn and is associated with prematurity and invasive procedure. Neonatal staphylococcal infections due to skin interruption during intramuscular vitamin K administration and national metabolic screening programme (heel prick or Guthrie card test) have been already previously described. This is a report of a premature infant who developed an inguinal adenitis as a result of late complications from heel pricks. The diagnosis was made on clinical grounds and confirmed by ultrasound scans. Staphylococcus aureus was isolated. Bacteremia did not occur and the lymphadenitis had a complete resolution with antimicrobial therapy. The heel prick is a well-established procedure in neonatal practice, nevertheless it is not risk-free. The attention to signs of infections is important to avoid complications such as purulent lymphadenitis, abscess formation and septicemia. Best practice prevention and control in minimising the risk of infections are the most important intervention to prevent this complication.

Pott’s puffy tumour by Streptoccocus intermedius a rare complication of sinusitis

An 8-year-old child presented with persistent fever, headache and a frontal swelling. The medical history was significant for recurrent episodes of upper respiratory tract infections and frontal headache. On physical examination, she showed a good performance condition and normal neurologic status. On palpation, a tender, fluctuating, doughy and warm mass (9×7 cm) in the forehead …