A Novel Case of Biliary Atresia in a Premature Neonate With 1p36 Deletion Syndrome.

We describe the case of a premature male neonate diagnosed with biliary atresia who was found to have chromosome 1p36 deletion syndrome. Our patient was born prematurely, at a gestational age of 28 weeks. Pregnancy was complicated by advanced maternal age, gestational hypertension, and intrauterine growth restriction. Physical examination revealed several dysmorphic features, prompting a genetic evaluation, which revealed chromosome 1p36 deletion syndrome. At week 7 of life, he was found to have acholic stools. Direct bilirubin was found to be elevated despite discontinuation of total parenteral nutrition at 3 weeks of life, thus raising the suspicion for biliary atresia. Biliary atresia was confirmed by constellation of clinical, imaging and intraoperative findings. First reported in 1996, 1p36 deletion syndrome has been researched increasingly and several new phenotypic associations have been reported over the years. While attempts at linking specific phenotypic abnormalities with individual gene(s) deletion(s) are being made, deletion patterns that would affect specific organ system or function remain to be fully understood. Thus, clinicians currently rely on reports of previously identified abnormalities. To our knowledge, our patient is the first report of biliary atresia in a patient with chromosome 1p36 deletion syndrome. It is important to determine the etiology of the cholestasis, when present, while caring for premature neonates with 1p36 deletion syndrome. This is necessary to avoid assuming that the cholestasis is arising from total parenteral nutrition administration and not from other gastrointestinal anomalies including biliary atresia, which is a time-sensitive diagnosis.

Bullous Skin Manifestations of Mycoplasma pneumoniae Infection: A Case Series.

Bullous skin lesions are uncommon in children. While it is well known that Mycoplasma infections are associated with papular skin manifestations, bullous skin lesions are not commonly reported. Mycoplasma pneumoniae is a very common bacterial pathogen causing respiratory tract infection in children and adults. We report 2 children with serology-confirmed Mycoplasma infection who were hospitalized for blistering skin lesions. Both of our patients responded well to corticosteroids and one of them required intravenous immunoglobulin. The aim of this case report is to raise awareness that Mycoplasma pneumoniae infection can present with bullous skin lesions, and to briefly review the pathophysiology, diagnosis, and management of the skin manifestation of Mycoplasma infection.

Parental perception of efficacy of antihistamines for pruritus in pediatric atopic dermatitis.

BACKGROUND: Clinicians have previously prescribed antihistamines for relief of atopic dermatitis (AD) associated pruritus. The use of antihistamines in AD has recently received less emphasis from newly published practice parameters that currently only recommend short-term, intermittent use of first-generation antihistamines to induce sleep in patients with AD. OBJECTIVE: Our study aimed to determine parents' perception of the usefulness of antihistamines in reducing their child's itch due to AD. METHODS: A 12-question survey was mailed to parents of patients who were attending a pediatric allergy clinic. Patients with physician-diagnosed AD who had a clinic visit in the past 3 years were included. Questions included the following: time since AD diagnosis, itching frequency, impact on sleep, frequency and relief provided from using antihistamines, and comparison of antihistamines to other antipruritus treatments. RESULTS: Sixty-three percent of parents surveyed responded that antihistamines were helpful in the management of their child's AD, and only 5% did not find any itch relief. The majority of the responders were parents of younger patients (ages, 2-10 years) with immunoglobulin E sensitization and AD for more than a year. Eighty-five parents (68.5%) reported no interruption of sleep due to itching, and, among them, an almost equal number were currently solely using either a first- or second-generation antihistamine. The more antihistamines were perceived as relieving itching, the more they were used (ρ = 0.209, p = 0.025) and provided more relief than other products (ρ = -0.336, p < 0.001). When compared, parents ranked antihistamines to be as helpful as topical corticosteroids. CONCLUSION: Parents of pediatric patients with AD found that antihistamines were an important part of AD management.