Yildirimchase3156
Implantable collamer lens (ICL) might rarely cause complications that warrant explantation. Here, we presented a case of inverted ICL that has undergone explantation after a 10-year duration.
. A 49-year-old male with past ocular history of ICL implantation 10 years ago presented complaining of progressive decrease of visual acuity in the left eye for a long time. On examination, decreased visual acuity, anterior subcapsular cataract, and low ICL vault were noted. The anterior segment optical coherence tomography (AS OCT) showed inverted ICL. The ICL was explanted, and cataract surgery was done.
Inverted ICL should be kept in mind as a rare cause of long-term poor visual acuity in patient with a history of ICL surgery.
Inverted ICL should be kept in mind as a rare cause of long-term poor visual acuity in patient with a history of ICL surgery.
Obstetric ultrasonography is routinely used to screen for fetal anomalies. Thanatophoric dysplasia (TD) is one of the common though rare lethal skeletal dysplasia, detected during routine ultrasound scan. TD is caused by a mutation in FGFR3 gene. Characteristic features include shortening of limbs, macrocephaly and platyspondyly. In our local setting, it is common to miss the diagnosis in the early scans due to lack of expertise of the sonographers. To the best of our knowledge, this is the first publication from Ghana.
. We present the case of a 33-year-old woman who was referred to the facility on account of ultrasound scan report suggestive of thanatophoric dysplasia type 1 at 34 weeks of a female baby. The diagnosis was not made despite the mother being a regular antenatal attendant, until a fifth scan done at 34 weeks reported features suggestive of thanatophoric dysplasia. The ultrasound scan features included a biparietal diameter of 37weeks, femur length-24weeks, narrowed thoracic cage with hypoplastic lungs and short ribs. The liquor volume was increased with amniotic fluid index (AFI) of 38.4 cm. The femur, tibia, fibula, humerus, ulna, and radius were shortened (micromelia). The diagnosis of thanatophoric dysplasia type 1 was confirmed on autopsy.
This report was aimed to highlight the potential contribution of ultrasound scan in the diagnosis of thanatophoric dysplasia in our setting.
This report was aimed to highlight the potential contribution of ultrasound scan in the diagnosis of thanatophoric dysplasia in our setting.Background. Congenital toxoplasmosis is a major sequela of untreated primary maternal infection. With or without symptoms, untreated infections eventually lead to multiple neurologic complications. Despite the high Toxoplasma gondii seroprevalence in the Ethiopian population, there are no reports of newborns diagnosed and treated for congenital toxoplasmosis. Presentation of Cases. SR-0813 inhibitor The clinical presentation, evaluation, and management of three infants with congenital toxoplasmosis are described. Two were symptomatic at birth. All three had confirmed diagnoses using Toxoplasma serologic tests. Two completed their treatment with one infant developing complications of strabismus and seizure disorder. Discussion and Conclusions. There is little experience in managing congenital toxoplasmosis in Ethiopia due to constraints in diagnostics and therapy. The description of this first such report underscores the need for risk assessment and evaluation during antenatal care to obtain favorable fetal outcomes.Coccidioidomycosis is a fungal infection caused by Coccidioides immitis and Coccidioides posadasii. While infections are usually mild, severe disease occurs in immunocompromised patients. Dissemination is associated with severe morbidity and mortality. Because of the tendency of this disease to imitate many diseases, diagnosis may be difficult on presentation. We present a case of disseminated coccidioidomycosis in a patient who was initially managed as miliary tuberculosis. In endemic areas, coccidioidomycosis is one of the two top differentials for miliary micronodular distribution on chest imaging. The patient was a recently diagnosed HIV positive patient and presented to the hospital with multiorgan failure, septic shock, and acute respiratory distress syndrome. He rapidly deteriorated and died within three days of presentation at the emergency department.Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a novel virus that has affected millions of individuals across the world. It was officially declared as a pandemic on March 11, 2020. Although most patients with COVID-19 manifest as viral pneumonia characterized by symptoms such as fever, dyspnea, and cough, atypical presentations such as acute respiratory distress syndrome (ARDS) and acute kidney or cardiac injury have been reported amongst COVID-19 patients. Bilateral and peripheral ground-glass and opacities are the hallmarks of COVID-19 infection on imaging exams. Herein, we aim to describe a COVID-19 patient who presented with shortness of breath, neck pain, chest pain, and bilateral pneumothorax in his imaging exam.Langerhans cell histiocytosis (LCH) is an infrequent disease, characterized by oligoclonal proliferation of immature myeloid-derived cells. However, the exact pathogenesis remains unknown. In rare cases, LCH is present in patients with concomitant myeloid proliferative neoplasms. Here, we describe a 69-year-old male, who presented with a maculopapular rash covering truncus, face, and scalp. A cutaneous ulcerating lesion on the right cheek led to a biopsy showing LCH. Lesional cells were BRAF V600E and JAK2 V617F mutated. A bone marrow aspirate showed no infiltration of Langerhans cells, but alterations consistent with primary myelofibrosis (PMF) and a polymerase chain reaction test were positive for JAK2 V617F. Our case highlights an uncommon condition of two hematological malignancies present in the same patient. The identification of the BRAF V600E mutation supports previous findings of this mutation in LCH. Interestingly, a JAK2 V617F mutation was found in both LCH and PMF cells, indicating a possible clonal relationship between the two malignancies.X-linked hypophosphatemia (XLH) is the most prevalent form of hereditary hypophosphatemic rickets associated with phosphate wasting. However, its diagnosis is often missed, resulting in patients presenting late in the course of the disease when complications such as tertiary hyperparathyroidism and renal failure have already set in. Phosphate and calcitriol replacement, both of which have undesirable consequences of their own, have historically been the main stay of therapy. We describe the case of a 57-year-old gentleman with tertiary hyperparathyroidism, who was mislabelled as having achondroplasia for many years before we made a diagnosis of XLH in him. His XLH was found to be due to a hereto unreported deletion of entire exon 14 with partial deletions of introns 13 and 14 of the PHEX gene. Perioperative management in him was fraught with surgical and medical difficulties including an operation that was technically complicated due to his multiple anatomical deformities. Our case also highlights the critical importance of timely recognition and accurate diagnosis of XLH, as well as the long-term multidisciplinary management that is needed for this disorder.