Year 2018, Volume 2 - Issue 1

Abstract not available

Background: Vitamin D is a vital hormone in preserving calcium and phosphorus homeostasis in the body and maintaining normal growth and mineralization of bones. Case Presentation: We identified a patient with vitamin D dependent rickets type 1A (VDDR1A). This patient had rachitic skeletal manifestations, macrocephaly, retarded motor development, hypocalcemia, hypophosphatemia, markedly elevated alkaline phosphatase, and secondary hyperparathyroidism associated with normal 25 hydroxyvitamin D [25(OH)D] and low 1,25-dihydroxyvitamin D [1,25(OH)2D]. These biochemical abnormalities are consistent with the diagnosis of VDDR1A. Molecular analysis of CYP27B1 gene revealed novel homozygous mutation "Gly125Arg". Unaffected parents were heterozygous carriers. Conclusion: It is highly suggestive that "Gly125Arg" is the molecular defect causing this disease in our patient. Gly125Arg is likely to be a pathogenic mutation that leads to VDDR1A.

Background: Radioiodine therapy has long been used in the treatment of hyperthyroid patients. Salivary complications secondary to radioactive iodine (RAI) treatment are well documented, there is little in the literature addressing salivary gland duct obstruction. We present a rare case of salivary gland duct obstruction developed 2 months after RAI treatment. Case Presentation: We describe a 50-year-old male, treated with RAI for hyperthyroidism. He developed pain and swelling in the left submandibular region, 2 months after receiving RAI treatment (25 mCi). His salivary gland scintigraphy was done after injecting 370 MBq (15 mCi) of Tc99m pertechnetate in supine position. It revealed retention of radiotracer in the left submandibular gland with no drainage through the duct system, even on giving lemon stimulus, favoring submandibular gland duct obstruction. Conclusion: We report this rare complication of submandibular gland duct injury occurring after RAI therapy. The occurrence of this complication even after low dose of radioiodine administration may be listed in gamut. All necessary measures must be taken to reduce such potential complications.

ABSTRACT Background: Toombak is a traditional type of smokeless tobacco used by people in Yemen, especially in Dawan Valley, Hadramout Province, Yemen. Smokeless tobacco use may be considered as a predisposing risk factor for several oral diseases. Case presentation: This paper presents two cases. The first is that of a 27-year-old male toombak user with severe periodontitis and oral melanosis. The second case is that of a 44-year-old male toombak user with oral hypermelanosis. The patient was subjected to scaling and polishing. Quit toombak counseling was conducted, and instruction was given to the patient about the adverse effects of toombak usage. Conclusion: Oral tissues are severely affected by toombak usage. Thus, comprehensive toombak prevention programs should be implemented to reduce toombak-associated diseases.

Background: Osteochondromyxoma is an extremely rare benign tumor. Few cases have been described in the literature. Patients with Carney complex may present with this tumor. Case presentation: We report a case of a nasal osteochondromyxoma in a 21-year-old female patient who presented with progressive nasal congestion, anosmia and episodes of self-limiting epistaxis. Magnetic resonance imaging and computerized axial tomography scans were performed which demonstrated a large tumor occupying the nasal cavity. Endoscopic sinus surgery was performed resulting in complete resection of the tumor. No recurrence has been observed at 24 months following endoscopic sinus surgery. The patient has also recovered olfaction. Conclusion: Although osteochondromyxomas are extremely rare, it should be considered as a differential diagnosis for nasal tumors, and surgical resection should be completed. A multidisciplinary assessment is recommended as it is a major criterion for the diagnosis of Carney complex.

Background: Scrotal swelling in the neonatal period is a common finding with a range of underlying causative processes, ranging from the benign to surgical emergencies. This case highlights some of the diagnostic difficulties in an unusual clinical presentation. Case Presentation: We describe a case of antenatal intestinal perforation presenting as scrotal swelling in a newborn of 35 weeks gestation. Antenatal ultrasound scans had not raised suspicion and there was no abdominal distension apparent in the immediate neonatal period. Clinical impression was initially of testicular torsion prior to radiological assessment, which demonstrated pneumoscrotum and free peritoneal gas requiring urgent surgery. Conclusion: It is important to consider intra-abdominal pathology in association with a patent processus vaginalis as a cause for scrotal swelling in the newborn, in addition to urological causes. Following surgical management, it is important to exclude cystic fibrosis as an underlying cause for meconium ileus.

Background: Pancreatic pseudocyst formation following blunt abdominal trauma is lesser known entity in pediatric age group as compared to.pancreatitis. The pickup rate of various post traumatic hidden pathologies is now possible because of modern diagnostic armamentarium. Case summary:.We present a 3-years old girl who reported with blunt abdominal trauma and developed pancreatitis She subsequently developed pseudocyst in the follow up period of management. Modern diagnostic tools like Ultrasonography (USG), Computed Tomography (CT) and Magnetic resonance imaging (MRI) helped in clinching the diagnosis.Conclusion:Blunt abdominal trauma in children should be taken seriously in diagnostic as well management point of view. We can manage the case as per the complications with the help of various diagnostic modalities as was in our present case.

Background: Acute appendicitis usually presents atypically in extremes of ages and can be associated with complications like perforation especially in the elderly and immunocompromised people. Case Presentation: We describe the case of an elderly lady with Type 2 diabetes, on long-term steroids for Sheehan's syndrome. She was found to have complicated acute appendicitis, that was ultimately treated with appendicectomy. Conclusion: Appendicitis can manifest atypically and can be complicated in the elderly and immunocompromised individuals like patients with diabetes. It should always be kept in the differentials of right iliac fossa pain.

Background: Coccydynia is pain around the coccygeal region without any definite point. This remains unclear in the beginning about the origin and nature of pain. Presacral epidermoids can either be diagnosed as an incidental finding or when these become symptomatic. Case Presentation: We present 35-years old female having coccydynia of one year duration. There was no relief of pain with symptomatic management as plain X-ray study was unremarkable. She was found to be having presacral epidermoid on imaging studies by Computerized Tomography (CT) and Magnetic Resonance Imaging (MRI). Conclusion: Being asymptomatic in nature Presacral Epidermoids remains undiagnosed for a long time. The cross-sectional imaging modalities as MRI is the key investigation for the diagnosis. DWI sequences play a key role in the work up diagnosis of Presacral Epidermoids.

Background: Struma ovarii is a rare ovarian tumor. Most of the cases are benign and a few cases have previously been reported with malignant transformation. Case Presentation: A 55 year old multiparous women presented with excessive menstrual bleeding, lower abdominal pain and distention. Histopathology report confirmed the presence of struma ovarii. Total abdominal hysterectomy and bilateral salpingo oophorectomy was done. Conclusion: Recommendation for treatment is excision of the tumor (teratoma) with follow up to see any metastatic possibility

Background: Coronary heart disease with acute coronary syndrome (type II myocardial infarction) may be an iatrogenic and a reversible cause with complete recovery after cessation of the accused agent. Case presentation: We present the case of a 52-year-old male patient who had received adjuvant chemotherapy consisting of capecitabine, 3 mg orally once per day, after resection of moderately differentiated invasive adenocarcinoma in the transverse colon. Three days (3 doses) after the initiation of chemotherapy, the patient reported typical anginal chest pain and an electrocardiogram (ECG) indicated ST-segment elevation. A repeat ECG in the catheterization laboratory showed normal results. Echocardiography showed that left ventricular systolic function was moderately to severely reduced. Coronary angiography revealed normal coronary arteries. Conclusion: Capecitabine should be used with caution, as patients receiving this medication might present with symptoms suggestive of acute coronary syndrome that might not always originate from epicardial coronary artery disease. There is always a possibility of vasospasm when a patient is receiving Capecitabine.