Giulia Angelino

Immunodeficiency in Vici syndrome: a heterogeneous phenotype.

Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, hypotonia, developmental delay, hypopigmentation, cataract, cardiomyopathy, and immunological abnormalities. Recurrent infections, mainly affecting the respiratory tract, have been reported in the majority of cases, representing an important risk factor for morbidity and mortality. The immunological phenotype of patients is extremely variable, ranging from a combined immunodeficiency to nearly normal immunity. We report on a new patient with Vici syndrome, in whom we have extensively investigated immunological features. Despite a mild impairment of the cellular compartment, a defect of humoral immunity was found, requiring treatment with intravenous immunoglobulin. A wider knowledge of immune system abnormalities of Vici syndrome will help to plan strategies for treatment and prevention of infections, such as immunoglobulin replacement and antimicrobial prophylaxis, resulting in improved survival rates.

Endoscopic management of esophageal stenosis in children: New and traditional treatments

Post-esophageal atresia anastomotic strictures and post-corrosive esophagitis are the most frequent types of cicatricial esophageal stricture. Congenital esophageal stenosis has been reported to be a rare but typical disease in children; other pediatric conditions are peptic, eosinophilic esophagitis and dystrophic recessive epidermolysis bullosa strictures. The conservative treatment of esophageal stenosis and strictures (ES) rather than surgery is a well-known strategy for children. Before planning esophageal dilation, the esophageal morphology should be assessed in detail for its length, aspect, number and level, and different conservative strategies should be chosen accordingly. Endoscopic dilators and techniques that involve different adjuvant treatment strategies have been reported and depend on the strictures etiology, the availability of different tools and the operators experience and preferences. Balloon and semirigid dilators are the most frequently used tools. No high-quality studies have reported on the differences in the efficacies and rates of complications associated with these two types of dilators. There is no consensus in the literature regarding the frequency of dilations or the diameter that should be achieved. The use of adjuvant treatments has been reported in cases of recalcitrant stenosis or strictures with evidence of dysphagic symptoms. Corticosteroids (either systemically or locally injected), the local application of mitomycin C, diathermy and laser ES sectioning have been reported. Some authors have suggested that stenting can reduce both the number of dilations and the treatment length. In many cases, this strategy is effective when either metallic or plastic stents are utilized. Treatment complications, such esophageal perforations, can be conservatively managed, considering surgery only in cases with severe pleural cavity involvement. In cases of stricture relapse, even if such relapses occur following the execution of well-conducted conservative strategies, surgical stricture resection and anastomosis or esophageal substitution are the only remaining options.

Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report

Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in the ataxia-telangiectasia mutated (ATM) gene. Because of a wide clinical heterogeneity, A-T is often difficult to diagnose in children.We report an unusual case of a 3-year-old boy affected by A-T who presented exclusively with extensive cutaneous granulomatosis and severe combined immunodeficiency, without neurological abnormalities, at the time of diagnosis. This case clearly emphasizes the variable presentation of A-T syndrome and highlights the difficulties in the early diagnosis of A-T.A-T should be considered in children with evidence of combined humoral and cellular immunodeficiency associated with unexplained skin granulomatous lesions, even in the absence of the classic features of this syndrome.

Relapsing Campylobacter jejuni Systemic Infections in a Child with X-Linked Agammaglobulinemia

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency of the humoral compartment, due to a mutation in the Bruton tyrosine kinase (BTK) gene, characterized by a severe defect of circulating B cells and serum immunoglobulins. Recurrent infections are the main clinical manifestations; although they are especially due to encapsulated bacteria, a specific association with Campylobacter species has been reported. Here, we report the case of a boy with XLA who presented with relapsing Campylobacter jejuni systemic infections. His clinical history supports the hypothesis of the persistence of C. jejuni in his intestinal tract. Indeed, as previously reported, XLA patients may become chronic intestinal carriers of Campylobacter, even in absence of symptoms, with an increased risk of relapsing bacteraemia. The humoral defect is considered to be crucial for this phenomenon, as well as the difficulties to eradicate the pathogen with an appropriate antibiotic therapy; drug resistance is raising in Campylobacter species, and the appropriate duration of treatment has not been established. C. jejuni should always be suspected in XLA patients with signs and symptoms of systemic infection, and treatment should be based on antibiogram to assure the eradication of the pathogen.

Multidrug-resistant Acinetobacter baumannii infection in children

Acinetobacter baumannii is a Gram-negative coccobacillus causing serious nosocomial infections. The recent emergence of strains of bacteria, which are resistant to common antibiotics, has made the treatment of these infections increasingly complex. We report the case of a young patient affected by AIDS, who suffered brain toxoplasmosis and sepsis due to multidrug-resistant A baumannii. This bacterial infection was successfully treated with colistin and tigecycline. In addition, we review recent literature on this topic, from the year 2000 to date.

Etiology, clinical outcome, and laboratory features in children with neutropenia: Analysis of 104 cases

Neutropenia is not uncommon in childhood. The aim of our study was to analyze the underlying causes of neutropenia and to evaluate its clinical significance in a series of children referred to our center.

Serratia marcescens osteomyelitis in a newborn with chronic granulomatous disease.

The Pediatric Infectious Disease Journal • Volume 32, Number 8, August 2013 unrelated bone marrow transplantation from a suitably matched donor. Osteomyelitis occurs in 13% of CGD patients; in childhood, most occur in the long bones, with only 1–4% in the hands or feet. Osteomyelitis in infancy particularly when caused by S. marcenscens should raise the suspicion of the presence of CGD as an underlying condition. We believe that this is the first case of osteomyelitis in a CGD patient reported in the neonatal period.

Fulminant Fusobacterium necrophorum meningitis in an immunocompetent adolescent.

Fusobacterium necrophorum is an anaerobic, gram-negative highly virulent bacillus, isolated from the oropharingeal cavity, the gastrointestinal tract, and the female genital tract. It is responsible of several clinical syndromes, mainly in children or adolescents, ranging from localized abscess, usually in the upper respiratory sites, to severe septicemic diseases, including meningitis. We report the fatal case of an immunocompetent male with suppurative otitis media and meningitis. Initial empiric antibiotic treatment was not effective. After the recovery of anaerobic gram-negative bacilli from blood cultures, treatment with metronidazole was started, and a rapid improvement in laboratory parameters was observed. However, the patients clinical course was incurable because of cerebral hypertensive complications. F. necrophorum was identified as the causative agent of this metastatic and fatal infection. This case has shown the severity of infection due to F. necrophorum and, at the same time, the underestimation of anaerobic bacteria in the spectrum of etiologic agents responsible for meningitis. Only a prompt diagnosis and an adequate treatment can improve the prognosis and avoid a fatal outcome.

Late‐onset combined immune deficiency due to LIGIV mutations in a 12‐year‐old patient

The non-homologous end joining (NHEJ) pathway is involved in the repair of the DNA double-strand breaks. Defects in NHEJ factors result in IR sensitivity, and in defects in V(D)J recombination leading to immunodeficiency. DNA Ligase IV is an essential component that performs the final ‘end processing’ step of NHEJ. This article is protected by copyright. All rights reserved.

Inflammatory bowel disease in chronic granulomatous disease: An emerging problem over a twenty years' experience

Chronic granulomatous disease (CGD) is a primary immunodeficiency of phagocytes, characterized by life‐threatening infections and hyperinflammation. Due to survival improvement, inflammatory bowel disease (IBD) is becoming increasingly relevant. Here, we report our 20 year experience.