Clinical Reasoning: A 31-Year-Old Man With Sequential Vision Loss

A 31-year-old healthy white male experienced painless sequential vision loss. Brain imaging and laboratory investigations for infectious, inflammatory, and nutritional conditions, in addition to targeted genetic testing for Leber hereditary optic neuropathy (LHON), were all normal or negative. Despite systemic corticosteroid therapy and plasma exchange, vision continued to worsen. Eventually, mitochondrial whole genome sequencing was performed, which demonstrated a mutation at the 13513G>A position confirming the diagnosis of LHON. Three primary mutations (11778G>A, 14484T>C and 3460G>A) account for 90% of LHON cases, therefore it is important to consider whole genome mitochondrial sequencing in cases with a high index of clinical suspicion.

P.162 Effects of Systemic Corticosteroid Treatment on Pseudotumoral Hemicerebellitis

Background: Pseudotumoral hemicerebellitis is an acute, unilateral inflammation of the cerebellum that typically affects the pediatric population. The etiology remains to be elucidated, however frequently is attributed to post-infectious inflammation. Though it tends to be self-resolving, treatment may reduce the time to symptomatic recovery. Systemic corticosteroid therapy has been proposed as a mechanism for improving outcomes and time to symptomatic recovery. Methods: We present a case report of a 12-year-old male with pseudotumoral hemicerebellitis and unilateral cerebellar dysfunction. Additionally, we briefly review the additional 35 reported cases of pseudotumoural hemicerebellitis with respect to length of time to symptomatic recovery with or without systemic corticosteroid treatment. Results: 30 cases reported length of time to symptomatic recovery. Including our case, the mean time to recovery for those treated with systemic corticosteroids (n=20) was 48.05 days(SE=16.3). The mean time to recovery for those treated without (n=10) was 86.7 days(SE=29.3). Conclusions: Treatment with systemic corticosteroids was associated with a faster time to symptomatic recovery compared to without. Regardless of etiology, reducing inflammation and mass effect involved in pseudotumoral hemicerebellitis may be integral to a more rapid return to neurological baseline.

Melkersson–Rosenthal syndrome in the context of sarcoidosis: a case report

Background Melkersson–Rosenthal syndrome is a rare disease characterized by the triad of recurrent orofacial swelling with facial paralysis and fissured dorsal tongue. Histologically, noncaseating granulomatous inflammation occurs that confirms the diagnosis. Overlaps between granulomatous diseases such as sarcoidosis and Crohn’s disease are described. Systemic corticosteroid therapy is the treatment of choice for acute attacks. Case presentation We here present a case of a 59-year-old White woman suffering from Melkersson–Rosenthal syndrome with a past history of sarcoidosis on therapy with leflunomide in combination with low-dose tacrolimus successfully treated with the anti-leprosy drug clofazimine after failure of systemic steroid therapy. Conclusions We propose clofazimine as an alternative treatment in steroid-refractory cases.

Chronic respiratory failure in severe asthma – Questions answered after biological therapy, a clinical case

Severe asthma is defined as either refractory to traditional therapies or controlled only with therapies that have intolerable side effects. Biological agents are known to offer treatment alternatives to patients with type 2 inflammation severe asthma. We describe the case of a woman with a long history of type 2 inflammation severe asthma, with uncontrolled symptoms and need of systemic corticosteroid therapy as prevailing features, and with respiratory failure that differentiated her from other patients with severe asthma.

Tubulointerstitial nephritis and uveitis syndrome in an adolescent female: a case report

Background Tubulointerstitial nephritis with uveitis syndrome is a rare disease affecting mainly children and young women. Tubulointerstitial nephritis with uveitis is a diagnosis of exclusion, requiring a high degree of clinical suspicion. Studies report recent infections or certain drugs as precipitating factors of a lymphocytic oculorenal immune response. The prognosis is usually favorable with topical and systemic corticosteroid therapy. Case presentation We report a literature review and the case of a 14-year-old white girl, who presented to the ophthalmology department with features of one-sided uveitis. Upon transfer of patient to nephrological care, diagnostic work-up revealed renal involvement. Renal biopsy showed a mixed-cell and granulomatous tubulointerstitial nephritis with some noncaseating granulomas, leading to a diagnosis of tubulointerstitial nephritis with uveitis syndrome. With topical ocular and systemic corticosteroid therapy, the patients’ condition improved over several weeks. Conclusions Our case highlights the importance of early recognition and treatment of this syndrome, where cross-specialty care typically leads to a favorable outcome.

Association Between Systemic Corticosteroid Therapy and Mortality in Critically Ill Patients with Acute Exacerbation of Chronic Obstructive Pulmonary Disease: A Retrospective Cohort Study

Background Whether the patients admitted in intensive care unit (ICU) due to acute exacerbation of chronic obstructive pulmonary disease (AECOPD) would benefit from systemic corticosteroid treatment remains controversial. In this study, we aim to investigate the relationship between the systemic corticosteroid treatment and mortality in patients with severe AECOPD, using the public Medical Information Mart for Intensive Care III database (MIMIC III). Methods The baseline characteristics, laboratory examination and prognosis of AECOPD patients were retrieved from MIMIC III. Multivariate logistic regression was used to analyze the association between systemic corticosteroid treatment and prognosis. Propensity score matching (PSM) was employed to validate our findings. Results A total of 882 patients were included in our study, of which 293 patients (33.22%) underwent systemic glucocorticoid (GC) treatment. 30-day mortality was not reduced by treatment with systemic corticosteroid in this study. The adjusted odds ratio (OR) was 1.296 (95% CI: 0.907–1.852, p = 0.155) and 1.243 (95% CI: 0.867–1.782, p = 0.236) in the logistic regression model 1 and model 2 respectively. Similar results were replicated after PSM (OR 1.144, 95% CI: 0.744–1.759, p = 0.541). In the subgroup of patients with initial eosinophil concentration ≥ 0.35%, corticosteroid treatment resulted in worse outcomes compared with non-GC group. The adjusted odds ratio of 30-day mortality and in-hospital mortality for glucocorticoid therapy were 1.691 (95% CI: 1.002–2.855, p = 0.049) and 2.247 (95% CI: 1.218–4.147, p = 0.010) respectively. Conclusion Our study observed that Systemic corticosteroid therapy did not improve the mortality of severe AECOPD patients in ICU and aggravated the mortality of patients with high eosinophils. The results need to be verified in randomized controlled trials.

Respiratory Distress Complicating Laryngeal Sarcoidosis

Laryngeal involvement in sarcoidosis is rare but can be potentially dangerous. A Severe obstruction of the laryngeal tract may appear, sometimes requiring a tracheostomy. Systemic corticosteroid therapy is the treatment of choice for most patients. We report the case of a 25-year-old patient with isolated laryngeal sarcoidosis for 12 years. She was admitted for respiratory distress. The nasofibroscopy revealed diffuse supraglottic edema, the medical care consisted of an intense surveillance and a corticosteroid therapy. Isolated laryngeal sarcoidosis is a condition that requires multidisciplinary consultation. It presents a challenge in terms of diagnosis, in terms of appropriate management of the respiratory tracts and in terms of treatment.

Phacoanaphylactic endophthalmitis as sympathetic ophthalmia after corneoscleral injury

A penetrating corneoscleral injury case with the development of bilateral phacoanaphylactic inflammation of a sympathetic ophthalmia kind in a 59-year-old woman is described. The case reveals a difference between bilateral phacoanaphylactic inflammation and classical sympathetic ophthalmia. Unlike the latter, the clinical case showed on the “healthy” eye a sluggish inflammation of anterior uveitis type with a slowly progressing lens opacity, for which local and systemic corticosteroid therapy proved insufficiently effective. The morphological picture showed that the inflammation was located in the anterior part of the eye around the damaged lens with the formation of a macrophage-neutrophil abscess, which is typical for phacoanaphylactic inflammation, and the absence of granulomatous inflammation in the ciliary body, where plasmacellular infiltration prevailed.Conclusions. Phacoanaphylactic inflammation and sympathetic inflammation are autoimmune in their nature having different autoantigens. In phacoanaphylactic inflammation, autoantigen is the lens protein, while in sympathetic inflammation it is the uveoretinal antigen. The only method of treating phacoanaphylactic inflammation is to remove the cataract-altered lens. Our patient underwent phacoemulsification in her single eye, after which the symptoms of uveitis with hypertension disappeared completely and her vision was restored.

Una ragazzina che suda pus: l’idrosadenite suppurativa

Hidradenitis suppurativa (HS) is a chronic or recurrent autoinflammatory skin disease that affects apocrine gland-bearing regions. Typical lesions are nodules and abscesses that often result in sinus tracts and fistulas. The paper describes a case of recurrent inguinal HS in a 12-year-old girl with Down syndrome. A stable remission was achieved with a systemic corticosteroid therapy (prednisone).