Appendicitis in a Six-Month-Old Child With Coincidental Pneumonia.

Appendicitis is an exceedingly uncommon diagnosis in infancy and, thus, is typically not considered a differential diagnosis for this population. Its atypical presentation, with a wide range of clinical manifestations, creates a diagnostic challenge for physicians. Along with this, a patient's inability to articulate their pain adds another layer of diagnostic challenge. Here, we present the case of a six-month-old infant with a complicated hospital course of pneumonia and subsequent ileus, who was later found to have appendicitis with a surrounding abscess.

Congenital lobar emphysema: A rare cause of respiratory failure in neonates.

Congenital lobar overinflation, also known as congenital lobar emphysema (CLE), is an uncommon (1/20,000-30,000 live births) abnormality characterized by hyperinflation of one or more pulmonary lobes, usually with contralateral displacement of the mediastinum. While the etiology of most cases of CLE is poorly understood and labeled idiopathic, some cases are thought to be due to an intrinsic or extrinsic bronchial wall abnormality causing a ball valve mechanism with resultant hyperinflation of the affected lobe. CLE tends to have a predilection for males presenting insidiously in the first 6 months of life and have respiratory distress and progressive failure, with 50% of cases being asymptomatic at birth. Acquired forms of lobar emphysema are similar but are secondary to prolonged exposure to oxygen and positive pressure ventilation in premature infants. Clinical presentation is variable, ranging from wheezing, increased respiratory effort, cyanosis, feeding difficulties, and reflux or respiratory failure. Chest radiography (CXR) is the initial imaging obtained for any neonate with respiratory distress, which can aid in diagnosis showing overinflation, while computerized tomography (CT) remains the gold standard for confirmatory diagnosis. Treatment is variable and based on clinical severity. Some cases can be managed conservatively, while more severe cases require surgical intervention with lobectomy. Here, we present a case of a neonate in respiratory distress soon after birth, had initial improvement with supportive care, and was found to be secondary to CLE.

Clinical Characterization of Autosomal Dominant and Autosomal Recessive PROM1 Mutation With a Report of Novel Mutation.

BACKGROUND AND OBJECTIVE: This study aims to provide clinical characterization of PROM1 mutation with a report of novel mutation. PATIENTS AND METHODS: This study is a retrospective case series of six patients from a single institution with multimodal imaging, electroretinography, and genetic testing. RESULTS: Six patients aged 12 to 47 years were identified. Patients with autosomal recessive (AR) variants showed more severe panretinal dystrophy with symmetrical macular involvement and peripheral retinal pigment epithelium atrophy. The autosomal dominant (AD) variants, on the other hand, showed milder macular involvement with bull's eye maculopathy phenotype with minimal peripheral involvement. Among patients with AR variants, a younger patient with aberrant splicing showed a milder phenotype compared with patients with a nonsense mutation and an additional ABCA4 mutation. CONCLUSION: The authors describe patients with PROM1 retinopathy inherited AD and AR inherited patterns. Novel mutations of c.1909C>T and c.2050C>T were identified, leading to truncation of the protein at sequence p.Gln637* and p.Arg684*, respectively. [Ophthalmic Surg Lasers Imaging Retina 2022;53:422-428.].