जर्नल ऑफ़ क्लिनिकल केस रिपोर्ट्स

Abetalipoproteinemia (ABL, OMIM 200100) is a very rare metabolic disease with reported prevalence of less than one case per 100,000. It is an autosomal recessive disease resulting from mutations in the gene encoding microsomal triglyceride transfer protein (MTP). Affected patients present with a wide range of clinical symptoms during infancy. Typical manifestations are failure to thrive, low level of cholesterol and fat malabsorption. Other features like fatty liver, acanthocytosis and anemia are usually present. Low fat diet and fat-soluble vitamins are the main stay of therapy. This is a retrospective review of three patients admitted to Salmaniya medical complex (SMC), Bahrain, with ABL. We presented the clinical presentations, diagnosis, response to medical therapy and outcome of these three infants along with a literature review about ABL. A novel MTP gene mutation, c.1508_1515delTGGCTACC (p.Leu503Hisfs*7, exon 11, MTTP), was detected. Two patients responded to dietary modifications and one deceased.

Sulphasalazine, one of the 5-aminosalicylates, is widely used for the treatment of inflammatory bowel diseases and arthritis. Beside its classic adverse effects like blood dyscrasias and hepatic failure, peripheral neuropathy has been reported as a rare adverse drug reaction to sulphasalazine. The mechanism of this neurotoxicity is unknown tell nowaday. We report a case of neurotoxicity that occurs after prolonged use of sulphasalazine. Previously, reported cases of neurotoxicity have not shown improvement of electric signs in nerve conduction study after stopping treatment.

Primary oral melanoma is a rare neoplasm accounting for 0.5% of all oral malignancies. It has an aggressive behavior with a tendency of local invasion and distant metastases more readily than other malignant tumors of the oral cavity. Due to its rarity data on epidemiology, tumor behavior, treatment, follow up and survival of patients are mainly based on single case reports. Here we present a case of 85 years old female who presented with a hard palate blackish lesion and bilateral neck nodes enlargement, biopsy positive for malignant melanoma. With no evidence of extra oral primary melanoma evidence.

Introduction: Trimethoprim/Sulfamethoxazole (TMP/SMX), a commonly used antibiotic, is generally well tolerated, with adverse effects occurring in 6% to 8% of patients. Among the most common side effects are gastrointestinal and cutaneous reactions. Ileitis has rarely been associated with TMP/SMX use. We report a patient who developed DRESS syndrome with visceral involvement masquerading as ileitis. Case Report: A 46 years old Hispanic male was treated with levofloxacin and then switched to TMP/SMX for urinary tract infection. The patient developed nausea, vomiting, diarrhea, arthalgias, myalgias and maculopapular rash. Colonoscopy showed ileitis and colitis confirmed by histopathology. Lab finding supported the diagnosis of drug rash with eosinophilia and systemic symptoms (DRESS syndrome). Other causes of ileitis such as infections, inflammatory bowel disease and ischemia were ruled out. Upon discontinuation of TMP/SMX and administering supportive therapy and steroids, the patient improved. Patient reported complete resolution of symptoms on follow up after four weeks. Conclusion: In this patient, the timing of onset after initiation of TMP/SMX and the overall clinical picture is consistent with DRESS syndrome associated with ileitis. Gastrointestinal involvement in DRESS syndrome is uncommon. Differential diagnosis of ileitis is broad and the significance of drug induced ileitis is that diagnosis is by exclusion. Withdrawal of TMP/SMX with or without steroids and supportive care is mainstay of therapy. The role of steroids is considered beneficial when DRESS syndrome involves visceral organs.

Background: It is not uncommon that a child with a febrile illness of unknown etiology is admitted to the hospital. When the complete blood count reveals a pancytopenia, the diagnostic process can be a real challenge.

Case presentation: A 13-year female of Arab-Berber descent presented with abdominal pain and fever after a vacation in north-western Morocco. Complete blood count revealed a pancytopenia and blood smear revealed spirochetes. Borrelia hispanica was identified by sequencing the 16S rRNA gene. The patient was treated with tetracyclines and during this treatment we saw full clinical and hematological recovery.

Conclusions: Borrelia hispanica is a known cause of Tick-borne relapsing fever and is transmitted to humans through the bite of soft ticks of the genus Ornithodoros (Alectorobius). Although the link between tick-borne relapsing fever (TBRF) and thrombocytopenia has been documented, there are only a few case reports of TBRF presenting with pancytopenia. To the best of our knowledge, there is no previously report of Borrelia hispanica presenting with pancytopenia.

Unilateral breast edema is caused by a variety of conditions, and rare cause of unilateral breast edema is central vein stenosis in the patient with hemodialysis. In the patient with hemodialysis, subclavian or innominate vein stenosis can rarely cause unilateral breast edema, but the stenosis of junction between superior vena cava (SVC) and right atrium (RA) is very rarely reported. Here we report the pin-point stenosis of junction between SVC and RA presenting as right breast edema in the patient with end-stage renal disease with hemodialysis.

Traditionally, catheter ablation of ventricular tachycardia (VT) consists of mapping the circuit during VT, and using pacing maneuvers to localize critical isthmus of the circuit. However, substrate-guided ablation of VT is a relatively new technique and involves identifying potentially arrhythmogenic regions of myocardium in sinus rhythm and avoids the need for mapping during VT. In this short editorial article, we aimed to discuss substrate mapping of VT.

The oral cavity is a very rare site for metastases, it was described in a number of cancers e.g. lung, breast, colon and prostate cancers. Prostate cancer with oral metastasis is uncommon and accounts for less than 2% of oral malignancies. We report a case of buccal mucosa metastases from ca prostate primary, confirmed by histopathology and immunohistochemistry tests.

Aortic aneurysm is an uncommon vascular emergency that can exceptional present with neurologic symptoms owing to spinal cord ischemia; neurosurgeon may be the first physician to evaluate a patient who has an acute aortic dissection presenting as a spinal cord injury. The increased mortality associated with a delayed diagnosis necessitates familiarity with this condition. We describe a patient who experienced an abdominal aortic aneurysm that initially presented as cauda equine syndrome.

Ovotesticular disorder or true hermaphroditism is a condition in which an individual has both ovary and testis. The ovary is usually located on the left side, whereas the testis is on the opposite side. The SRY gene is detected in one third of cases of 46 XX ovotesticular DSD. The most common karyotype of ovotesticular DSD is 46 XX. Here, we report the case of a girl with SRY positive 46 XX karyotype diagnosed as ovotesticular DSD by gonadal biopsy. The patient presented with female phenotype and ambiguous genital since birth. The external genital showed an accessoria penile without OUE with rough right labia majora that looked like scrotum. Testicle was felt on the right side of scrotum. USG revealed no appearance of normal uterus, right testicle was visualized but no visualization of left testicle. Right and left ovaries were not clearly visualized. Karyotyping-46 XX and SRY gene was detected on 472 bp fragment on multiplex PCR of AZF/SRY gene analysis. Diagnostic laparoscopy showed left hemiuterus with fallopian tube and unilateral left side ovary. The shape and size of left fallopian tube was normal. Histopathologic examination report revealed left gonad was ovarium with primary follicle and right gonad was testicle with leydig cell and seminiferous tubules. This patient was decided as a girl. The operation was initiated and divided into 2 phases. The first phase was orchidectomy of the right side testicle and the second phase was genital reconstruction (clitoroplasty and labioplasty).

Oligodendrogliomas are rare childhood brain tumors. Cranial MR images are nonspecific. Identification is easier with histopathological and genetic investigation. We report a 15-month-old male patient presenting with restlessness and inability to walk over the preceding week. Although cranial MR findings suggested demyelinating white matter disease, oligodendroglioma was diagnosed on the basis of biopsy following radiological findings. We present this case in order to describe the initial radiological findings and to emphasize the importance of MR spectroscopy in diagnosis in such patients.

Diabetic ketoacidosis (DKA) is a frequently encountered medical emergency that usually develops in the setting of severe insulin deficiency. It may be the initial clinical presentation of newly diagnosed diabetes mellitus; however, it is usually triggered by a severe medical illness or insulin therapy omission in patients with previously diagnosed diabetes mellitus. FOLFIRI (FOLinic acid, 5-fluorouracil and IRInotecan) is a systemic chemotherapy regiment frequently employed in the management of advanced colorectal carcinoma. Besides the common and well known hematological toxicity, 5-fluorouracil based chemotherapy has been associated with new onset diabetes and worsening glycemic control in known diabetics. The authors report on a case of DKA in a previously well-controlled type 2 diabetic patient upon exposure to FOLFIRI chemotherapy.

Systemic sclerosis (SSc) is a multisystem disease characterized by widespread vascular dysfunction and progressive fibrosis of the skin and internal organs. SSc’s prevalence ranges from 30 to 240 per million inhabitants, being females mostly affected. This case is about a female, 43 years old. Visited family doctor with complaints of fatigue, lumbago at nighttime and systemic myalgia. Pain, edema and thumb’s paresthesia persisting for a week preceding the time of the appointment. Physical examination showed edema of the distal phalanges bilaterally. No skin or nail changes were present. No signs of arthritis. Raynaud’s phenomenon with coarse speckle >1:160, normal ds-DNA and RF, sedimentation rate of 32 mm/h. The patient was referred to a rheumatology consultation. During one year of follow-up in rheumatology consultation, just kept arthralgia without other symptoms. In September 2014, the physical exam showed skin wrinkling in the distal ends of the fingers with positive Raynaud. New immunological study ANA, rheumatoid factor (RF), C3, C4, anti-centromere antibody (ACA), topoisomerase I (anti-Scl-70) and nailfold capillaroscopy were requested. Positive ANA, negative ACA and anti-Scl-70. Nailfold capillaroscopy showed dilated capillary loops, microhemorrhages and architectural derangement. Systemic sclerosis (SE) was diagnosed. Methrotrexate and prednisolone treatment were initiated. Currently, progressive worsening of tissue fribrosis despite maximal immunosupression with methrotrexate. Tocilizumad treatment under consideration. Annual follow-up with pulmunary function testing (PFT), lung CT and Doppler echocardiography.

Overlapping symptomatology with other diseases such as systemic lupus erythematosus (SLE), dermatomyositis and rheumatoid arthritis may occur. Therapy requires a systemic and multidisciplinary overview of the patient. It must be coherently adapted to target its manifestations, as to improve quality of life and prevent, when possible, disease progression.

The reported frequency of ipilimumab-induced hypophysitis (IIH), a cytotoxic T-lymphocyte antigen 4 antibody, ranges from 0 to 17%, in contrast to the rarity of idiopathic autoimmune hypophysitis that has an estimated incidence of one in nine million people per year.

Here we present the case of a patient with ipilimumab- induced hypophysitis (IIH). After his third course of ipilimumab, the patient began to present worsening asthenia and severe headache. A brain MRI scan showed the mild swelling of the anterior pituitary gland and thickening of the stalk. Haematological reports were consistent with hypophysitis diagnosis: in fact, ACTH and cortisol levels were very low. Then ipilimumab was interrupted and therapy with a large dose of glucocorticoids (dexamethasone) was promptly started. A rapid symptoms improvement was obtained by this therapeutic approach. The dose of dexamethasone was gradually decreased over 4 weeks and hydrocortisone replacement was started.

Development of IIH is associated with the risk of acute adrenal insufficiency or adrenal crisis, so early recognition and therapeutic intervention are extremely relevant. Furthermore, in the absence of data demonstrating clinical benefit from high-dose glucocorticoid therapy, we wondered if, in absence of symptoms such as visual disturbances or other life-threatening simultaneous irAEs in other organs, there is the indication to start with hydrocortisone replacement therapy alone from the beginning. We also wondered if it was reasonable to administer ipilimumab during prolonged high-dose glucocorticoid therapy. Thus, guidelines for surveillance and management of IH are highly required.

62-year-old female presents with hypertensive urgency while taking daily NSAIDs. This case demonstrates the effect of NSAIDs on BP, an often over-looked etiology of secondary hypertension. The detrimental effects of NSAIDs upon blood pressure have been well documented. The report reiterates and reviews the severity of the problem. We will review the existing literature and discuss the importance of small increases in blood pressure. This paper has not been submitted elsewhere, is not under review, or published previously and all of the authorship are aware of and approve the manuscript being submitted to this journal.

Infectious diseases are global health related disorder caused by pathogenic microorganisms such as bacteria, viruses, fungi or parasites. Infectious diseases today are the leading cause of death worldwide, will probably never be completely eradicated. In recent years, the antibiotics or vaccines available to treat infectious diseases have proven to be effective in most cases, yet the growing problem of drug resistance by pathogenic microbes has cornered infectious disease as global public health threat.

Crohn’s disease is a chronic inflammatory intestinal disease associated with increased of pro-inflammatory cytokines, iron deficiency and anaemia. This case report demonstrates a strategy for intravenous iron supplementation in a patient with Crohn´s disease and severe anaemia. This study found an increased in iron and haemoglobin concentrations, malondialdehyde and superoxide dismutase levels and a reduction in glutathione peroxidase (GPx), vitamin A and E. In conclusion the use of intravenous iron probably leads to increase ROS production; this effect may be reduced by using polivitaminics, and enhanced the free radical scavenger.

The angiomyxolipoma is a very rare clinical entity that is considered a variant form of a common lipoma or of a spindle-cell lipoma, however two distinct entities are currently controversial. We report a 56-year-old previous healthy woman who had chief complaint of slow growing mass on the right foot for 3 years. Radiologic examination, ultrasonography, excision biopsy, immunohistochemistry was evaluated. Final diagnosis of angiomyxolipoma was done. We reviewed current articles about angiomyxolipoma and compared with our result. We discussed about its clinical significance.

Nowadays, purulent pericarditis (PP) has become a rare disease with the increased use of antibiotics in clinical practices. The outcome of PP is poor due to severe infection and haemodynamic failure by the inhibition of the ventricle repletion, and no consensus exists on the treatment. We describe a case of PP with postoperative chronic pericardial effusion changing to the abscess. Following literature, the patient was treated with drainage and intrapericardial injection of urokinase. Inflammation and haemodynamic indexes with the transthoracic echocardiography were improved. We report a valuable case with literature discussion.