Clinical Case Reports

A 46-year-old female with history of Churg-Strauss syndrome was seen for a flare-up. The rash that she presented with was because of traditional practice called “coining” and this can be confused with physical abuse especially in children and a careful history is needed.

Pregnancy and giant splenic artery aneurysms should be addressed in a way to achieve optimal results for the mother and the fetus. In our case, the need for immediate intervention, with minimal risk, made open aneurysmectomy and distal splenopancreatectomy, the ideal approach to undertake.

We should possibly revise our knowledge about risk assessment of splenectomized individuals with β-thalassemia major. Besides their known risk of certain bacterial infection, they might be also in a risk of life-threatening primary cytomegalovirus (CMV) infection and end-, multi-organ disease, in the context of their immunosuppression status. Prompt and appropriate treatment initiation can be life saving.

There is an increasing need for physicians to handle venous obstructions in pacemaker/implantable cardioverter-defibrillator implants. Venoplasty performed by an experienced operator is a simple, safe, and fast way to manage this situation and proceed to implant. Compared to other approaches, this strategy may offer particular advantages.

It is often difficult to treat for elbow contractures by malformation of bones. We planned a mobilization of elbow with using three-dimensional full-scale bone modeling. We found it was effective to use it in preoperative planning because we could recognize the elements of contractures in every deformity.

The prenatal abnormalities in patients with penta X syndrome appear late in pregnancy and are nonspecific. In contrast, the postnatal phenotype is well described although new findings are still revealed. Penta X syndrome is a result of successive nondisjunctions of the X chromosomes in both maternal meiotic divisions.

The Amelogenesis Imperfecta is associated with malocclusion and usually requires an interdisciplinary treatment. Due to the patient's refusal of orthodontic treatment, prosthodontics-based treatments alternative was considered and planned. The patient was treated with zirconia-based fixed partial dentures, which resulted in improved occlusion, better oral health, and improved esthetic appearance.

Matrix technique described in this article combines the advantages of both flexible and rigid matrix in anterior composite restorations. Using mylar strip provide advantages, of one utilizing the mylar strip for contouring the labial aspect of restoration thereby, and overcomes the problem in adapting the teflon tape around the tooth.

Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma. Diagnosis is only confirmed by histopathology examination. Trans-sphenoidal surgery is considered diagnostic when descent tissue specimen is obtained and therapeutic by decompressing optic pathway and the sella. Pathological findings always reveal granulomatous areas, and multinucleated giant cells, plasma cells, and lymphocytes.

A prenatally ascertained case representing the more severe end of the X-linked dominant chondrodysplasia punctata (CDPX2).

Lateral chest film showing air surrounding subxiphoid node.

We report on three related Congolese popliteal pterygium syndrome (PPS) patients concordant only for the skinfold over the toenail. Mutation analysis revealed that the three affected individuals carried a heterozygous missense mutation in the Exon 4, NM_006147.2:c.250C>T; p.Arg84Cys. This is the first molecularly confirmed PPS family from central Africa.

Clinical features are variable in patients with Cornelia de Lange syndrome (CdLS). Milder forms exist with structural maintenance of chromosomes 3 (SMC3) mutations. Inherited milder forms of CdLS are uncommon and may be missed if genetic testing is limited to Nipped-B-like protein (NIPBL) and SMC1A. Parental studies should be pursued if there is a history of learning disabilities and/or dysmorphic features.

We report a case of Noonan syndrome with loose anagen hair (NS/LAH), a rare variant of Noonan syndrome, with associated trichorrhexis nodosa and trichoptilosis. The SHOC2 mutation may be responsible for these additional hair shaft defects, revealing the importance of microscopic examination of hairs in these patients.

Expectant management of fetal death complicated by placenta previa occurring during midtrimester trimester may induce fetal/placental atrophy and decrease uterine blood flow to facilitate vaginal delivery. Our experience with these cases suggests that about 4 weeks of expectant management should be considered as a management strategy.

We evaluate the clinical findings and the treatment response of a late-diagnosed case with a novel homozygous insertion c.13_14insG (p.P6Afs*202) result in a frameshift mutation in MLYCD gene. Both cardiac and neurologic involvements were mild when compared to previously reported cases, and see low-fat/high-carbohydrate diet treatment is highly effective.

Barber-Say syndrome is a rare disorder characterized by hypertrichosis, redundant skin, and facial dysmorphism. TWIST2 gene mutation previously described in this syndrome was identified in our patient. Genetic testing is recommended in patients presenting with these phenotypic abnormalities, along with their parents, to establish de novo or inherited mutations.

The dismal outcome of pleuropericardial extramedullary multiple myeloma (EMM) reflects both the selection of resistant disease and absence of useful drugs. Carfilzomib and dexamethasone should be explored in advanced EMM patients, even for bortezomib-resistant patients, as may provide much longer overall survival than previously reported treatments.