Complicated appendicitis wrongly diagnosed as nonspecific diarrhea: ways to decrease this continuous threat.

BACKGROUND: The diagnostic assessment of right lower quadrant pain in children and adolescents is still a challenge. The aim of this study was to analyze the cases of complicated appendicitis wrongly diagnosed as nonspecific diarrhea, and based on the information obtained suggest a clear and simple policy in order to decrease misdiagnosis in the future. METHODS: Three groups of patients were analyzed: children who underwent appendectomy (group 1); those with gastroenteritis (group 2), and those who underwent appendectomy following hospitalization under the wrong diagnosis of gastroenteritis (group 3). RESULTS: Group 3 presented a more prolonged and complicated clinical course, higher fever, diffuse abdominal pain, repeat vomiting, higher C-reactive protein values, longer surgery duration and recovery. CONCLUSIONS: When the etiology of right lower quadrant abdominal pain is not immediately evident and associated with atypical diarrhea, high fever, repeat vomiting, and significantly increased CRP values, early surgical consultation is required. If the clinical findings are unclear, an abdominal US should be performed as soon as possible. A limited abdominal computed tomography scan CT should follow those cases not resolved by history, physical examination, blood tests, and abdominal ultrasound.

Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation.

BACKGROUND: Posterior column ataxia retinitis pigmentosa (PCARP) with feline leukemia virus subgroup C cellular receptor 1 (FLVCR1) gene mutation is a rare disorder with significant ophthalmic features. MATERIALS AND METHODS: We conducted a retrospective case series study of patients diagnosed with PCARP and genetic testing positive for FLVCR1 mutation between 1 January 2015 and 1 October 2017 at the Children's Hospital of Pittsburgh. Clinical charts, visual fields, fundus autofluorescence, and spectral-domain optical coherence tomography (SD-OCT) were reviewed. RESULTS: Seven patients from three families were identified to have PCARP and FLVCR1 mutation. The median age at presentation was 13 years (range, 7-28 years). Common clinical exam findings were astigmatism, cataracts, and vitreous syneresis. Funduscopy on all patients revealed bull's eye maculopathy, retinal vessels attenuation, and bone spicule changes in the peripheral retina. Fundus autofluorescence showed bilateral hyperautofluorescent rings. SD-OCT demonstrated morphological changes, which differed based on age. The youngest sibling family exhibited peripheral loss, but subfoveal preservation of the outer retinal layers. These layers were lost in the oldest sibling family. Visual fields loss paralleled SD-OCT findings. CONCLUSION: There is limited published ophthalmic data on FLVCR1-related PCARP. We describe clinical and retinal imaging features in the one of the largest cohorts of affected patients in the literature. Given the availability of genetic testing for this phenotype, testing for FLVCR1 mutations should be considered in pediatric and adult patients with sensory ataxia and retinitis pigmentosa.

Progression to macula-off tractional retinal detachment after a contralateral intraoperative intravitreal bevacizumab injection for proliferative diabetic retinopathy.

We report a patient with progression to a macula-off tractional retinal detachment in a fellow eye after a contralateral intraoperative intravitreal bevacizumab injection. A 32-year-old diabetic man noted decreased vision in his left eye 1 week following 25 gauge pars plana vitrectomy, gas tamponade, and intraoperative injection of bevacizumab in his right eye. Left eye visual acuity decreased from 20/80 to 20/200, and macula-off tractional retinal detachment was seen on clinical exam and imaging. Progression of tractional retinal detachment associated with proliferative diabetic retinopathy in a fellow eye after a contralateral intraoperative intravitreal bevacizumab injection may occur.

Dry eye symptom severity and persistence are associated with symptoms of neuropathic pain.

OBJECTIVE: Studies of patients with non-ocular pain suggest that it is therapeutically useful to identify those with features of neuropathic pain. No data is available, however, on whether this approach has similar utility in dry eye. The purpose of this study was to determine whether severity and persistence of dry eye symptoms associate with self-reported symptoms of neuropathic ocular pain (NOP). DESIGN: Cohort study. PARTICIPANTS/SETTING: 102 men seen in the Miami Veterans Affairs eye clinic. A baseline evaluation was performed consisting of the dry eye questionnaire 5 (DEQ5) and ocular surface evaluation. Patients were contacted ≥2 years later to repeat the DEQ5 and complete questionnaires that further characterised their eye pain. MAIN OUTCOME MEASURE: The relationship between dry eye symptom severity and persistence (DEQ5) and additional measures of ocular pain (NOP). RESULTS: Of 102 patients with variable dry eye symptoms, 70 reported at least mild symptoms on both encounters (DEQ5≥6). Fifty-four of 70 (77%) reported ≥1 NOP feature, and the number of NOP features correlated moderately with dry eye symptoms at both encounters (r=0.31-0.46, p<0.01). Patients with any symptom of NOP had higher dry eye symptom scores at both encounters (p<0.05), but similar ocular surface parameters. Hypersensitivity to wind and photoallodynia were associated with having mild or greater symptoms on both encounters (OR 3.4, 95% CI 1.2 to 10.0, p=0.02; OR 15.6, 95% CI 2.0 to 123, p=0.009, respectively). CONCLUSIONS: NOP features are common in patients with symptomatic dry eye and these features correlate with symptom severity and persistence.

Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease.

A 7-year-old girl presented with decreased vision in both eyes for 1 month. Examination showed visual acuity of 20/50 and 20/60, no afferent pupillary defect, cecocentral scotomas, and bilateral optic disc edema with extensive peripapillary and macular exudates. Magnetic resonance imaging showed multiple cortical and subcortical white matter lesions. Both the laboratory workup and the systemic examination were unrevealing. However, on follow-up, the patient showed episodic elevations of blood pressure as high as 240/160. Further workup revealed elevated urine catecholamines and a right supra-adrenal mass proven to be a pheochromocytoma by histopathologic analysis. The paroxysmal hypertension resolved, and the visual acuity, visual fields, fundus exam, and neuroimaging improved. The patient was lost to follow-up until age 18 when she developed shortness of breath and was found to have multiple pulmonary metastases identified as pheochromocytoma by biopsy. Genetic testing identified a 3p25-26 (c.482 G>A) VHL gene chromosomal mutation consistent with von Hippel-Lindau disease genotype. Multiple peripheral retinal vascular dilations and small retinal capillary hemangioblastomas were also found. This case highlights the importance of recognizing the lability of blood pressure often seen with pheochromocytomas, which may mask the underlying cause of hypertensive papillopathy and retinopathy, a diagnosis of low clinical suspicion in the pediatric population. The case also underscores the importance of thorough systemic workup, including genotyping to detect conditions where pheochromocytoma may be the presenting sign of the disease, such as multiple endocrine neoplasia 2A and 2B, von Hippel-Lindau disease, von Recklinghausen disease, tuberous sclerosis, and Sturge-Weber syndrome.

Ocular surface symptoms in veterans returning from operation Iraqi freedom and operation enduring freedom.

PURPOSE: To correlate situational exposures and psychiatric disease with self-reported ocular surface symptoms in a younger veteran population involved in Operation Iraqi Freedom and Operation Enduring Freedom (OIF/OEF). METHODS: Cross-sectional study of all veterans evaluated in the OIF/OEF clinic between December 2012 and April 2013 who completed the dry eye questionnaire and screening evaluations for environmental exposures, posttraumatic stress disorder (PTSD), and depression. The main outcome measures were the influence of environmental exposure and psychiatric disease on ocular surface symptoms. RESULTS: Of 115 participants, the average age was 33 years. While overseas, exposure to incinerated waste (odds ratio [OR] 2.67, 95% confidence interval [CI] 1.23-5.81, P = 0.02) and PTSD (OR 2.68, 95% CI 1.23-5.85, P = 0.02) were associated with self-reported ocular surface symptoms. On return to the United States, older age (OR per decade 2.66, 95% CI 1.65-4.31, P = 0.04) was associated with persistent symptoms and incinerated waste was associated with resolution of symptoms (OR 0.25, 95% CI 0.07-0.90, P = 0.04). When evaluating symptom severity, 26% of the responders complained of severe ocular surface symptoms, with PTSD (OR 3.10, 95% CI 1.22-7.88, P = 0.02) and depression (OR 4.28, 95% CI 1.71-10.68, P = 0.002) being significant risk factors for their presence. CONCLUSIONS: PTSD was significantly associated with ocular surface symptoms both abroad and on return to the United States, whereas air pollution in the form of incinerated waste, was correlated with reversible symptoms.