CASE PRESENTATION: A 78-year-old Han Chinese man living in a nursing home was diagnosed with fecal impaction; his initial symptom was overflow diarrhea, which is a rare occurrence with regard to fecal impaction. Nevertheless, we were able to effectively treat this situation by employing a new medical device that presents a novel method for addressing fecal impaction.
CONCLUSION: Early identification of fecal impaction with atypical symptoms is crucial to provide proper emergency management. A safe and noninvasive treatment method, especially for elderly patients with fecal impaction, should be chosen.
CASE PRESENTATION: Here we report a 16-year-old Malaysian Chinese boy, a product of a non-consanguineous marriage, who presented with intellectual disability, facial dysmorphism, high arched palate, congenital talipes equinovarus (clubfoot), congenital scoliosis, congenital heart defect, and behavioral problems. A routine chromosome analysis on 20 metaphase cells showed a normal 46, XY G-banded karyotype. Array-based comparative genomic hybridization was performed using a commercially available 244 K 60-mer oligonucleotide microarray slide according to the manufacturer's protocol. This platform allows genome-wide survey and molecular profiling of genomic aberrations with an average resolution of about 10 kB. In addition, multiplex ligation-dependent probe amplification analysis was carried out using SALSA MLPA kit P320 Telomere-13 to confirm the array-based comparative genomic hybridization finding. Array-based comparative genomic hybridization analysis revealed a 7.3 MB terminal deletion involving chromosome band 18q22.3-qter. This finding was confirmed by multiplex ligation-dependent probe amplification, where a deletion of ten probes mapping to the 18q22.3-q23 region was detected, and further multiplex ligation-dependent probe amplification analysis on his parents showed the deletion to be de novo.
CONCLUSION: The findings from this study expand the phenotypic spectrum of the 18q- deletion syndrome by presenting a variation of typical 18q- deletion syndrome features to the literature. In addition, this case report demonstrated the ability of the molecular karyotyping method, such as array-based comparative genomic hybridization, to assist in the diagnosis of cases with a highly variable phenotype and variable aberrations, such as 18q- deletion syndrome.
CASE PRESENTATION: A 42-year-old Chinese man presented with polytrauma (severe head injury, lung contusions, and right femur fracture). Emergency craniotomy and debridement of right thigh wound were performed on presentation. Intraoperative hypotension secondary to bleeding was complicated by transient need for vasopressors and acute liver enzyme elevation indicating shock liver. Beginning on postoperative day 5, he developed an acute platelet count fall (from 559 to 250 × 109/L over 3 days) associated with left iliofemoral deep vein thrombosis that evolved to bilateral lower limb ischemic necrosis; ultimately, the extent of limb ischemic injury was greater in the left (requiring below-knee amputation) versus the right (transmetatarsal amputation). As the presence of deep vein thrombosis is a key feature known to localize microthrombosis and hence ischemic injury in venous limb gangrene, the concurrence of unilateral lower limb deep vein thrombosis in a typical clinical setting of symmetrical peripheral gangrene (hypotension, proximate shock liver, platelet count fall consistent with disseminated intravascular coagulation) helps to explain asymmetric limb injury - manifesting as a greater degree of ischemic necrosis and extent of amputation in the limb affected by deep vein thrombosis - in a patient whose clinical picture otherwise resembled symmetrical peripheral gangrene.
CONCLUSIONS: Concurrence of unilateral lower limb deep vein thrombosis in a typical clinical setting of symmetrical peripheral gangrene is a potential explanation for greater extent of acral ischemic injury in the limb affected by deep vein thrombosis.
CASE PRESENTATION: A 74-year-old indigenous Malaysian man with underlying chronic kidney disease presented with recurrent admissions for hyponatremia with parameters indicative of syndrome of inappropriate antidiuretic hormone secretion, constitutional symptoms, and diffuse skin lesions suggestive of multiple seborrheic keratoses. A radiological workup revealed metastatic renal cell carcinoma with evidence of metastasis to the brain, adrenal glands, bone, and lungs.
CONCLUSIONS: To the best of our knowledge, renal malignancy presenting as syndrome of inappropriate antidiuretic hormone secretion and Leser-Trélat concurrently is rare. The causes of hyponatremia in the elderly, approach to investigation, and value as a poor prognostic marker in malignancy are highlighted. We also discuss Leser-Trélat syndrome, its pathophysiology, and its possible implications on clinical practice.
CASE PRESENTATION: We report the case of a 37-year-old Chinese woman with primary Sjögren syndrome who presented with ataxia over 3 months associated with tremor of the limbs. Magnetic resonance imaging of the brain revealed bilateral cerebellar atrophy. Based on the presence of cerebellar signs with magnetic resonance imaging brain findings, she was diagnosed as cerebellar degeneration secondary to primary Sjögren syndrome. She was treated with methylprednisolone, hydroxychloroquine, and two cycles of monthly intravenous cyclophosphamide. Subsequently, she refused further treatment, and her neurological symptoms remained the same upon the last clinic review. Primary cerebellar degeneration is rarely associated with primary Sjögren syndrome. The pathogenesis of the neurological manifestations in primary Sjögren syndrome is unclear. Treatment involves corticosteroids and immunosuppressive agents with no consensus of a specific therapy for the management of primary Sjögren syndrome with central nervous system involvement.
CONCLUSIONS: Cerebellar degeneration is a rare presentation of primary Sjögren syndrome. Early diagnosis and treatment of this condition is needed to ensure a good outcome.
CASE PRESENTATION: A 32-year-old Arab man presented with a three-year history of a gradually increasing, painless penile swelling. Our patient's main complaint was non-erectile sexual dysfunction. The swelling was preceded by at least three prior episodes of severe furunculosis at the penile root. He had no other contributory past medical or family history. On examination there was gross penile enlargement, maximally at the mid shaft, associated with thickened skin at the sites of prior furunculosis. The glans and scrotum were normal. Both testes were palpable. Serology for filariasis, and urinary tract ultrasound and computed tomography scan were normal. The clinical diagnosis was lymphedema following recurrent penile furunculosis. At operation the lymphedematous tissues were removed. Closure of the penile shaft was accomplished by bilateral advancement of flaps from both ends of the penis. He resumed normal sexual activity one month after surgery. At 12 months, he had a good cosmetic result, with no signs of recurrence.
CONCLUSIONS: Furunculosis at the penile root may result in lymphedema confined to the penile shaft, sparing the scrotum. Excision of abnormal tissue and cover with a skin flap gave excellent cosmetic results, and allowed satisfactory sexual activity.
CASE PRESENTATION: We present the case of a 37-year-old Malay gentleman with underlying type 2 diabetes mellitus on empagliflozin, who presented to our hospital with symptomatic coronavirus disease 2019 infection and diabetic ketoacidosis. He developed severe rebound euglycemic diabetic ketoacidosis due to the continuous usage of empagliflozin for glycemic control alongside intravenous insulin.
CONCLUSIONS: Physicians should have a high index of suspicion in diagnosing and managing euglycemic diabetic ketoacidosis, including withholding treatment of sodium-glucose cotransporter 2 inhibitors during the acute management of diabetic ketoacidosis.
CASE PRESENTATION: We report a case of Melanau lady with chronic diarrhea secondary to laxative usage in a patient being treated with automated peritoneal dialysis (APD). The patient went into hypovolemic shock, but luckily did not contract peritonitis. A colonoscopy revealed brown to black discoloration of the colon, a feature suggestive of melanosis coli. A biopsy of the intestine further confirmed the diagnosis by histopathological examination. Withdrawal of laxatives and the introduction of probiotics improved the symptoms tremendously.
CONCLUSIONS: The chronic use of laxatives in PD patients can potentially lead to a devastating problem; thus, the management team must monitor treatment commencement appropriately.
CASE PRESENTATION: A 64-year-old Indian male with a past history of coronary artery bypass graft surgery, congestive heart failure, and diabetes mellitus complained of worsening shortness of breath for 2 weeks. Incidentally, a transthoracic echocardiography showed a "thumb-like" mass in his right atrium extending into his right ventricle through the tricuspid valve with each systole. Abdomen magnetic resonance imaging revealed a heterogenous lobulated mass in the upper and mid-pole of his right kidney with a tumor extending into his inferior vena cava and right atrium, consistent with our diagnosis of advanced renal cell carcinoma which was later confirmed by surgical excision and histology. Radical right nephrectomy, lymph nodes clearance, inferior vena cava cavatomy, and complete tumor thrombectomy were performed successfully. Perioperatively, he did not require cardiopulmonary bypass or deep hypothermic circulatory arrest. He had no recurrence during the follow-up period for more than 2 years after surgery.
CONCLUSIONS: Advanced extension of renal cell carcinoma can occur with no apparent symptoms and be detected incidentally. In rare circumstances, atypical presentation of renal cell carcinoma should be considered in a patient presenting with right atrial mass detected by echocardiography. Renal cell carcinoma with inferior vena cava and right atrium extension is a complex surgical challenge, but excellent results can be obtained with proper patient selection, meticulous surgical techniques, and close perioperative patient care.