Sensory phenotype assessment in a young girl affected by congenital insensitivity to pain (CIPA)

Sensory phenotype was assessed in a young girl affected by congenital insensitivity to pain (CIPA) scheduled for an open surgical drainage. The sensory profile showed that only the Abeta fibers were functioning normally, whereas Adelta and C fibers did not respond to nociceptive stimuli. On the basis of these findings and the results of cardiovascular reflexes, she was submitted to abscess incision and debridement under midazolam sedation alone. She did not report pain or other discomfort during surgery. The sensory (and sympathetic) assessment may have a high potential value in planning anesthesia and analgesia in children with CIPA. This psychophysical procedure could be introduced as standard component of clinical evaluation before surgery

Spleen nodules: a potential hallmark of Visceral Leishmaniasis in young children

open8noBACKGROUND: Visceral leishmaniasis (VL) is a severe disease caused by Leishmania infantum in the Mediterranean basin, and is associated with considerable morbidity and mortality. Infantile VL may begin suddenly, with high fever and vomiting, or insidiously, with irregular daily fever, anorexia, and marked splenomegaly. Delays in diagnosis of VL are common, highlighting the need for increased awareness of clinicians for VL in endemic European countries. CASE PRESENTATION: We report 4 cases of young children in northern Italy presenting with persistent fever of unknown origin and diagnosed with VL by serological and molecular methods. At the time of diagnosis, these patients showed an unusual echographic pattern characterized by multiple iso-hypoechoic nodules associated with splenomegaly. CONCLUSION: We suggest that detection of spleen nodules represents a signature of VL in infants, thus helping to diagnose systemic Leishmania infantum infection in children.openFraia Melchionda;Stefania Varani;Filomena Carfagnini;Tamara Belotti;Trentina Di Muccio;Roberto Tigani;Rosalba Bergamaschi;Andrea PessionFraia Melchionda;Stefania Varani;Filomena Carfagnini;Tamara Belotti;Trentina Di Muccio;Roberto Tigani;Rosalba Bergamaschi;Andrea Pessio

Acute mastoiditis in an Italian pediatric tertiary medical center: A 15 - Year retrospective study

Background: Acute mastoiditis is the main suppurative complication of acute otitis media. Its incidence ranges from 1.2 to 4.2/100.000 children/year and a rise has been reported in the last years. There are controversial data regarding risk factors for mastoiditis and its complications. Aim of the study: to evaluate demographics and clinical characteristics of children with acute mastoiditis and to identify possible risk factors for complications. Methods: We retrospectively reviewed medical charts of all the children aged 1 month-14 years admitted to our Paediatric Emergency Department from January 2002 to December 2016. Results: One hundred forty-seven cases (97 males and 50 females) were included in the analysis, mean age was 4.8 \ub1 3.6 years and 28.2% of the patients were younger than 2 years. We found an increasing number of mastoiditis per year during the last 3 years of the study. Children younger than 2 years were less treated with antibiotics for acute otitis media or treated for a shorter period (p < 0.05), while they were treated at higher antibiotic's dosage for mastoiditis (p < 0.01). Older children presented more frequently with symptoms such as earache or retroauricular pain (p < 0.0001, p < 0.001). We didn't identify any risk factor for mastoiditis complications in our study. Conclusions: Despite the introduction of pneumococcal vaccines, the incidence of acute mastoiditis in our population has not been reduced during the last years. We have to face all the reasons why this condition is still relevant, such as antibiotic resistance, new pathogens involved and a possible role played by the implementations of therapeutic acute otitis media guidelines restricting the use of antibiotics in this disease. A particular attention should be given to younger children where signs and symptoms may be less pronounced, therefore acute otitis media or mastoiditis may be misunderstood and appropriate treatment delayed

Acute Hemiplegia and Facial Palsy 4-Months after Acute Kawasaki Disease in a 31-Month Old Girl

Kawasaki disease (KD) is an acute systemic vasculitis of unknown pathogenesis that affects small and medium-size blood vessels. Coronary arterial lesions are the best known KD complications but many others are well known and involve various anatomical districts in the acute and sub-acute period of KD. Cerebral infarction revealed by acute neurological manifestations is extremely rare, and till now true stroke events were reported only in the acute or sub-acute stage of patients with KD. We describe a 31-month-old girl referred to our Paediatric Emergency Unit for the appearance of left hemiplegia and facial palsy 4-months after an acute episode of an uncomplicated KD. Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) showed hyperintensity lesions due to cerebral infarction in the absence of thrombosis or aneurysms of medium and large-vessels. Recently, the use of MRI and/or SPECT in KD patients has outlined a great variability in cerebro-vascular involvement showing various degrees of cerebral hypoperfusion, with or without neurological symptoms. Considering the normality of MRA studies in our patient we can assume that the appearance of stroke is due to a progressive degeneration of her small vessels leading to an arteritic complication that was not completely resolved after the previous acute KD illness. In conclusion and in order to prevent long-term arteritic vascular damage, probably anti-platelet therapy should be continued for more than 6 to 8 weeks also in patients without coronary aneurismatic degeneration in the early KD stage

Lymphocyte TRPV 1-4 gene expression and MIF blood levels in a young girl clinically diagnosed with HSAN IV.

OBJECTIVE: Patients with congenital insensitivity to pain are unable to sense pain and temperature. They undergo many injuries, inflammatory state, and infections. Various mutations in the neurotrophic tyrosine kinase receptor gene have been implicated in this disorder. We measured the leukocyte expression of transient receptor potential vanilloid (TRPV) 1-4 genes and the blood macrophage migration inhibitory factor (MIF) concentration in a young girl clinically diagnosed with congenital insensitivity to pain. The investigation may help to define the interplay between nerve growth factor and TRPV 1-4 channels and between these sensors and MIF in this disease, and in broader terms in nociception. METHODS: TRPV 1-4 gene expression (real-time polymerase chain reaction) and MIF concentration (enzyme-linked immunosorbent assay) were determined in the blood of the girl, her family, and control participants. Statistical analysis of gene expression was carried out between samples and controls with a mathematical model based on the correction for exact polymerase chain reaction efficiencies, and the mean crossing point deviation between samples and controls. RESULTS: The TRPV 1--4 gene expression rates did not significantly differ from the values found in the control group. TRPV1 was almost doubly upregulated. MIF levels were much higher than the reference value. DISCUSSION: The high increase in the MIF concentration (likely due to the chronic or recurrent inflammatory state) may have contributed to the normal expression of TRPV 1-4 and to the relative upregulation of TRPV1. The role of this cytokine on the expression of these genes deserves further investigation

Vitamin A deficiency due to selective eating as a cause of blindness in a high-income setting

Vitamin A is a fat-soluble micronutrient involved in the regulation of several physiologic functions, such as visual acuity, epithelial tissue integrity, immune response, and gene expression, thus playing a crucial role in childhood growth and development. Although Vitamin A deficiency (VAD) in resource-limited settings is still an actual issue and represents the leading cause of preventable childhood blindness, its occurrence in highincome countries is rare, although possibly underdiagnosed because of its nonspecific early manifestations. A good awareness of VAD symptoms and risk factors could aid its early diagnosis, which is fundamental to undertake a prompt treatment and to prevent ocular complications. Nevertheless, the role of restrictive dietary habits, increasingly common in developed countries, is often overlooked in infants and children. We present a case of VAD with permanent ocular sequelae in a 5-year-old girl from a highincome country. In the case described, VAD ensued from a highly restricted diet, mainly limited to oat milk, which had been followed for more than 2 years. This child presented with ocular symptoms, opportunistic infection, anemia, poor growth, and a diffuse squamous metaplasia of the bladder; after commencing retinol supplementation, a gradual healing of clinical VAD manifestations occurred, with the exception of the ocular sequelae, which resulted in irreversible visual loss

Lymphocyte TRPV 1-4 Gene Expression and MIF Blood Levels in a Young Girl Clinically Diagnosed With HSAN IV

7OBJECTIVE: Patients with congenital insensitivity to pain are unable to sense pain and temperature. They undergo many injuries, inflammatory state, and infections. Various mutations in the neurotrophic tyrosine kinase receptor gene have been implicated in this disorder. We measured the leukocyte expression of transient receptor potential vanilloid (TRPV) 1-4 genes and the blood macrophage migration inhibitory factor (MIF) concentration in a young girl clinically diagnosed with congenital insensitivity to pain. The investigation may help to define the interplay between nerve growth factor and TRPV 1-4 channels and between these sensors and MIF in this disease, and in broader terms in nociception. METHODS: TRPV 1-4 gene expression (real-time polymerase chain reaction) and MIF concentration (enzyme-linked immunosorbent assay) were determined in the blood of the girl, her family, and control participants. Statistical analysis of gene expression was carried out between samples and controls with a mathematical model based on the correction for exact polymerase chain reaction efficiencies, and the mean crossing point deviation between samples and controls. RESULTS: The TRPV 1--4 gene expression rates did not significantly differ from the values found in the control group. TRPV1 was almost doubly upregulated. MIF levels were much higher than the reference value. DISCUSSION: The high increase in the MIF concentration (likely due to the chronic or recurrent inflammatory state) may have contributed to the normal expression of TRPV 1-4 and to the relative upregulation of TRPV1. The role of this cytokine on the expression of these genes deserves further investigation.nonenoneBachiocco V; Bergamaschi R; Spinsanti G; Lima M; Romagnoli R; Sorda G; A. ALOISIBachiocco, V; Bergamaschi, R; Spinsanti, Giacomo; Lima, M; Romagnoli, Roberta; Sorda, Giuseppina; Aloisi, ANNA MARI

Carbonic anhydrase II deficiency: A rare case of severe obstructive sleep apnea

The term osteopetrosis describes a group of rare hereditary diseases of the skeleton, characterized by an increase in bone density, caused by a defect in the development or function of osteoclasts. It comprises a clinically and genetically heterogeneous conditions ranging from infantile onset life-threatening forms to mildest adult onset forms. "Malignant" osteopetrosis is characterized by bone fragility, short stature, compressive neuropathies, hypocalcaemia, pancytopaenia. The deficiency of carbonic anhydrase II causes a moderate form, presenting classically as a triad of osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification. This condition leads to specific craniofacial dysmorphisms associated with upper airway obstruction that may result in obstructive sleep apnea. Herein we report a case of osteopetrosis with RTA associated with severe OSAS successfully treated with continuous positive airway pressure (CPAP)