Journal of Clinical Case Reports

The purpose of this study was to describe a pedigree with NEFL (c.64C>T, p. Pro22Ser, NM_006158) mutation which results in CMT (Charcot Marie Tooth) disease. This pedigree comprised 10 patients with 6 surviving cases over four generations. The clinical picture was characterized by pes cavus, distal limb weakness and atrophy and a steppage gait. Genetic testing was performed in a total of 12 subjects from this family (including 4 affected and 8 asymptomatic controls) to confirm this mutation. Electrophysiological findings revealed mixed demyelinating and axonal neuropathy. This mutation was well cosegregated with affected members in the autosomal dominant pattern. We have a pair of twins with vastly different phenotypes and genetic backgrounds in this family, giving robust evidence of genotype-phenotype correlation in CMT. A male patient was diagnosed with cancer, giving rise to the consideration of more function of this mutation.

Introduction: Juxtapapillary duodenal diverticulum can cause chronic inflammation of the ampulla, swelling of the nipples, compression of the common bile duct and pancreatic duct openings, and leading to lemmel’s syndrome. Juxtapapillary duodenal diverticulum complicated with lemmel’s syndrome can cause severe signs, such as persistent abdominal pain, cholangitis, pancreatitis, and obstructive jaundice, which is easily confused with other diseases (such as pancreatic tumors and bile duct stones), the rate of misdiagnosis has increased. Therefore, timely identification, diagnosis and treatment to alleviate the symptoms of patients pose certain challenges for clinicians. Case presentation: An 81-year-old patient had a history of hypertension, diabetes mellitus, recurrent pancreatitis, and gallstone disease. Admitted to hospital for half an hour with persistent mid-upper abdominal pain. At that time, we considered that it was caused by choledocholithiasis. However, after preliminary CT examination, a mixed highdensity shadow was found near the descending part of the duodenum, the gallbladder was enlarged and stones were formed, and no choledocholithiasis was found. After admission, abdominal pain was relieved after the treatment of fasting, acid suppression, fluid replacement, and anti-infective, but the next day, abdominal pain recurred, and bilirubin increased significantly. In order to further clarified the cause of this disease, MR cholangiopancreatography was performed, and high density of masses in the descending part of duodenum was found. Dilatation of common bile duct and pancreatic duct, and no choledocholithiasis were found. Due to the patient’s signs were atypical, we were somewhat confused in the diagnosis. After our comprehensive evaluation and discussion, further duodenal endoscopy and tissue biopsy were performed and diagnosed as juxtapapillary duodenal diverticulum, which originated from submucosa. Due to the particularity of this disease and a comprehensive evaluation of the patient, we performed the treatment of EST (Endo-scopicsphincterotomy), and the patient’s symptoms gradually improved after surgery. After follow-up, no obvious abdominal discomfort was found. Discussion and Conclusion: Juxtapapillary duodenal diverticulum complicated with lemmel’s syndrome may not have typical symptoms and specific complications, and the rate of misdiagnosis is high. When patients have symptoms that cannot explain recurrent abdominal pain, bloating, bleeding, and recurrent pancreatitis, the possibility of this disease should be considered, and relevant examinations (such as CT, angiography, and duorectoscope) should be performed in time to identify and diagnose to reduce the incidence of obstructive jaundice and pancreatitis.

A patient aged 78, with no family history who consults for a rash on the right cheek confessing for 6 days, with a tingling sensation. Clinical examination reveals an erythematato-vesicular rash systematization of lesions, affecting the territory of the maxillary branches of the trigeminal nerve (V2, V3) right with clear limits with lesions of different ages. Significant homolateral palpebral edema as well as damage to the hemi-tongue, the hemi-lip and the homo-lateral external auditory canal was affected. The paraclinical assessment carried out during the initial stages of the rash found an isolated and transient lymphopenia at 900 ml. The clinical presentation, with vesicles of different ages and a systematization of the lesions along the nerve paths, brings to mind the diagnosis of the area of the branches V2 and V3 of the trigeminal nerve. Biological arguments reinforced our diagnosis. In immunocompetent adults over 50 years of age, valaciclovir is indicated for the prevention of ocular complications in the ophthalmic area and the prevention of post-operative pain [1]. Valaciclovir does not eradicate latent viruses; the patient will therefore remain exposed to the risk of a new episode. Analgesic treatment for acute phase pain has been used and for post-Zoster pain, treatment has focused on the use of pain relievers usually used in neurogenic pain (Figures 1 and 2).

Background: Cardiovascular Calcification (CVC) is a major contributor to the high incidence of Cardiovascular Events (CVE) in Chronic Kidney Disease (CKD). Early CVC markers are actively studied now in CKD for cardiorenoprotective strategy optimization. We have conducted a prospective comparative analysis testing the follow factors: FGF-23, Klotho, sclerostin, phosphate, parathyroid hormone serum levels, estimated Glomerular Filtration Rate (eGFR), central systolic Blood Pressure (BP) levels, as independent determinants of CVC. Materials and methods: A total of 131 CKD stage 2-5D patients were included. Serum FGF-23, Klotho, and sclerostin levels were measured by ELISA. Augmentation indices, central (aortal) BP (by «SphygmoCor»), valvular calcification score (by Echocardiography), and aortic calcinosis score (by abdominal aorta radiography), were performed. The observation period was 2 years. Results: According to Spearman`s correlation analysis, the percentage of calcification increase and the change in serum Klotho level were most related. According to ROC analysis, a decrease in Klotho serum level by 50 units or more is a significant predictor of an increase in aortic calcification by 50% or more with a sensitivity of 84% and a specificity of 75% Using logistic regression analysis, it was found that Klotho serum level ​

Objective: The process of casting contracted lower limbs and its effects in a patient after damage to the central nervous system is described. Case report: A 57-year-old patient, half a year after sudden cardiac arrest, suffered as a result of myocardial infarction. The consequence of this incident was damage in the central nervous system, which was the cause of spasticity and, as a consequence, contracture in the joints of the lower limbs. Before physiotherapy, a functional test was carried out, which included: measurement of the passive ranges of lower limb movement, assessment of spasticity with the Ashworth scale and determination of independence with the FIM scale. Every day for two months, the patient used three individual therapies and verticalization. Every three days he had the cast on his lower limbs changed. Results: As a result of the therapy, a significant improvement in the range of motion was achieved, a decrease in spasticity measured by the Ashworth scale was observed, as well as an improvement during everyday activities on the FIM scale. Conclusion: Casting is an effective method supporting the treatment of contractures of the lower limbs caused by increased muscle tension of neurological origin.

Pyoderma Gangrenosum (PG) is an ulcerating, idiopathic, neutrophilic, non-infective inflammatory disease that primarily affects the skin. Pulmonary manifestations are uncommon. The most important differential diagnoses are pneumonia, lung cancer, lung abscess, and Wegener’s granulomatosis. Here, we present a case with fever, cough, and cutaneous lesion, which was initially misdiagnosed as pneumonia. A CT scan showed irregular cavitated consolidation in both lower lungs. Histopathological skin findings were non-specific. The skin and lung lesions rapidly improved with corticosteroid treatment. This case demonstrates the challenges in the diagnosis of PG with lung involvement.

Background: Thyrotoxic periodic paralysis (TPP) is one of rare group of disorders called periodic paralysis. The usual presentation is lower limb weakness attributed to an intracellular shift of potassium. When the presentation is accompanied by increased thyroid hormone level the diagnosis of TPP can be made, and the treatment of acute attacks should be targeting hyperthyroidism with beta-blocker and antithyroid drugs, in addition to replacement of serum potassium with cautions. Cardiac arrhythmias are one of the possible complications that can occurs with tachyarrhythmias most commonly associated with TPP. Case presentation: We report a case of an Asian male who presented with bilateral lower limb weakness, his venous blood gas showed sever hypokalaemia and quickly developed bradycardia followed by cardiac arrest. The patient later found to have thyrotoxicosis and diagnosed with TTP. Conclusion: The diagnosis of TPP is often delayed due to similar presentation with familial periodic paralysis. The treating physician should have a low threshold for measuring the thyroid hormones. A patient with TPP can have variable arrhythmias with tachyarrhythmias being most common, but bradyarrhythmia can happen as with our case.

We report the case of a 60-year-old patient hospitalized in our training for the management of a renal mass, An ultrasound and an abdominal scanner showed the presence of a process of bulky heterogeneous renal tissue which infiltrates the right lobe of the liver measured at 88X87mm la, we performed a total enlarged right nephrectomy associated with a right hepatic lobectomy. The appearance of cells in “kitten ring” and the tubular appearance in “furniture nail” first evoke a carcinoma of the bellini collecting tubes, an immunohistochemical complement to confirm the diagnosis. Although rare, carcinoma of the collecting tubes poses a problem of differential diagnosis all the more since in our observation there was a massive infiltration of the liver making the diagnosis extremely difficult.