जर्नल ऑफ़ क्लिनिकल केस रिपोर्ट्स

The H-syndrome is a recently known autosomal recessive genodermatosis caused by mutations in the SLC29A3 gene, which encodes the nucleoside transporter hENT3. Cutaneous changes including Hyper pigmentation, hypertrichosis is characteristic for this syndrome but herein, we newly describe this syndrome in a 16 years old boy associated with generalized lipoatrophy and a novel mutation in exon 3 G155>A mutation in SLC29A3 gene. It seems that the clinical spectrum of this syndrome is much broader than the symptoms which were described in the first reported patients.

Background: Mucous membrane pemphigoid (MMP) is a serious, autoimmune, blistering disorder which primarily involves the mucous membranes and that can result in blindness and other complications as a result of scarring of mucous membranes. The oral cavity and the eye are most frequently involved. Since extension of the lesion into pharynx causes dysphagia and progressive ocular lesions may cause blindness, early and valid diagnosis is very important. Diagnosis of MMP is a problem because patients afflicted are elderly, the disease is chronic, and is often in an advanced stage when the diagnosis is established and requires aggressive therapy for control. Oral and dental care is important in all phases of the diagnosis and treatment of the patient with mucous membrane pemphigoid. Early recognition and diagnosis are important for early treatment, improving survival and for limiting the complications of therapy. Methods: Here we present a case of mucous membrane pemphigoid with onset at age 49 in patient who manifested severe periodontal disease and showed the lesion only on the mucous membrane of the gingiva. We describe how we made a differential diagnosis from other diseases which also accompany similar lesions. Results: We examined the clinical manifestations, blood test results, histopathologic findings of the affected tissue, and immunological findings in relation to autoimmunity. Conclusion: We believe that the diagnostic strategy described in the present study will be quite informative for making rapid and definite diagnoses of similar cases.

Objective: To describe the diagnosis and management of an unusual case of solitary fibrous tumor of nasal cavity. Methods: The case records of a patient with solitary fibrous tumor of nasal cavity were reviewed. Results: This patient presented with constant nasal obstruction of one and a half years duration. Nasal endoscopy revealed a firm polypoidal mass filling the left nasal cavity medial to middle turbinate. After imaging, she underwent endoscopic excision of the mass which on histopathological examination was diagnosed as solitary fibrous tumor. At follow up after one year, there was no recurrence of tumour. Conclusion: Solitary fibrous tumours are infrequent neoplasms of mesenchymal origin presenting as a well circumscribed, avidly enhancing mass that is iso- to hyperintense on T1W and T2W MRI images. Even though most SFTs are benign, some of these tumors can be locally invasive and have the potential to be malignant. Surgical excision with long term follow up is the treatment of choice.

Hydatid cyst in pelvic region is not common and most of the time is because of disease dissemination. We report a case of involvement of ovary and liver at the same time without other sites dissemination that was treated with ovarian cystectomy and liver with marsupialization after drainage and irrigation of cyst with silver nitrate and cyst wall removal.

Background: The changes of posterior cerebral arteries (PCAs) in Moyamoya disease (MMD) are often involved in the clinical setting. However, the changes of PCAs after recovering the hemodynamics of anterior circulation in MMD are not reported. Case Description: A 14-year-old patient was diagnosed as MMD with symptomatic stenosis in the right middle cerebral artery (MCA), asymptomatic stenosis in the left terminal internal carotid artery, and moyamoya-like vessels, stenotic lesion and an aneurysm were found in the right PCA, who was treated with balloon angioplasty in the right MCA. One month later, the patient suffered from transient ischemic attack in the right. DSA showed deteriorated severe stenosis in the left terminal portion of ICA and the proximal segment of MCA. The patient was performed angioplasty in the left ICA and MCA again. The follow-up angiography did not show any evidence of restenosis at the previous sites of stenosis after 18 months. Interestingly, the aneurysm and collateral vessels were disappeared as well as the stenotic vessel in the right PCA was recovered completely. Conclusion: Our findings indicated that the pathologic changes of PCA are reversible after recovering the hemodynamic of the anterior circulation in MMD. It is important to understand the pathophysiological changes of posterior circulation in MMD.

Over the years, cochlear implantation has become a well-accepted standard procedure in managing severe to profound sensorineural hearing loss. Patients who have received cochlear implant followed by intensive audiological and speech rehabilitation are able to acquire or regain hearing and develop normal or near normal speech. In Malaysia, there are a total of 503 recipients of cochlear implantation. Most of which were done in public hospitals. At KPJ, cochlear implantation started in Tawakkal Specialist Hospital in November 2012. Since then, we have had 6 cochlear implant recipients (a total of 8 ears). We review all cochlear implantation cases that were done in KPJ Tawakkal Hospital. We collected all data of patients who underwent cochlear implantation from period of November 2012 till July 2014. Amongst them, there were 3 males and 3 females. Three patients were implanted in the right ear only and 1 patient had left ear implantation only. Two of them received bilateral implants. Their age ranges from 2-35 years old. Three of them were Malaysians. The other 3 were foreigners; 2 from Brunei and 1 from Indonesia. There was no surgical complication. Cochlear implant recipient requires audiology and speech rehabilitation. In KPJ Tawakkal Specialist Hospital, these services are provided by the locum speech therapist and audiologists. KPJ Tawakkal Specialist Hospital is one of the very few private hospitals that offer cochlear implantation. It has the potential to become the centre of excellence for cochlear implantation in private hospitals. This program can be improved if we have permanent audiologists and speech therapists. These facilities are not only beneficial for cochlear implantation programme but also for newborn hearing screening and other diagnostic services.

We report the case of an 8-year-old male who experienced failure to thrive and dysphagia following idiopathic Toxic Epidermal Necrolysis (TEN). Despite a normal barium esophagram preoperatively, a significant degree of hypopharyngeal scarring was noted during direct laryngoscopy and bronchoscopy one year after initial presentation. Hypopharyngeal dysfunction following TEN has been reported in adults. However, there are no cases in the published literature examining this phenomenon in a pediatric patient. The purpose of this report is to highlight the potentially significant aerodigestive tract abnormalities following TEN in a pediatric patient, and to advocate for early direct laryngoscopy in children with mild symptoms. Additionally, this case demonstrates the need for a multidisciplinary approach to TEN in order to minimize morbidity.

We present a case report of a 56-year-old woman with cervical and thoracic epidural abscesses shortly after having received acupuncture treatment. The aim of this case report is to highlight a case of epidural abscesses following acupuncture. Epidural abscesses are rare complications of acupuncture treatment, which can potentially have significant neurological and functional consequences. Prompt detection and management of the condition can prevent or reduce permanent disabilities. Individuals who undergo regular acupuncture therapy should be made aware of this possible complication.

The Odontogenic Keratocyst (OKC) is a relatively common developmental odontogenic cyst arising from the dental lamina remnants. Multiple OKCs are rare and occur either in syndromic and non-syndromic groups. The Keratocyst demands special consideration because of its aggressive clinical nature and propensity for recurrence. Epithelial proliferation plays a significant role in behaviour of OKC and suggests that more aggressive behaviour is present in case of syndromic OKC than non-syndromic ones. Here we report a case of multiple OKCs in a 20 year old female patient having simultaneous occurrence of cystic lesions in maxilla and mandible without any syndromic manifestations. Comparison between syndromic and non syndromic multiple OKCs is also discussed.

Aim: Primary hyperparathyroidism (PHP) is the most common cause of hypercalcemia based on outpatient clinic. The diagnosis of PHP is generally straightforward with high intact parathyroid hormone (iPTH) and hypercalcemia. But, PHP does not always exhibit those biochemical features. Less known phenotype of PHP is the hypercalcemia with normal level of iPTH. We report a case of parathyroid adenoma with low normal peripheral iPTH and high jugular PTH levels presenting as hypercalcemia. Our aim was to discuss the different mechanisms of such an entity with the guidance of the literature. Case: A thirty-six year old woman who has type 2 diabetes mellitus was admitted to the hospital with the diagnosis of acute pancreatitis. On laboratory examination serum calcium and iPTH levels were as follows: 10.6, 10.7, 10.9 mg/dL and 28.8, 33.3, 31.7 pg/mL, respectively. Twenty-four hour calcium excretion was 403 mg/day; serum phosphor was 2.3 mg/dL. Based on the findings of hypercalcemia, hypercalciuria, positive sonographic and scintigraphic images, operation was performed with the possible diagnosis of PHP. PTH measurement was taken from the right jugular vein. Intraoperative PTH was 634 pg/mL. Histopathological examination revealed as parathyroid adenoma. Postoperative hypocalcemia didn’t occur and postoperative calcium and iPTH levels were normal. Conclusion: Clinicians should be aware of the presence of low-normal iPTH in PHP. If the clinical suspicion of PHP is high as in our case, surgery should be performed after exclusion of other causes of hypercalcemia.

Introduction: Although radiation-induced sarcomas are widely documented, most reports focus on pleomorphic malignant fibrous histiocytomas (high-grade undifferentiated pleomorphic sarcomas); few case studies involve myxofibrosarcomas. This paper reports on a grade II myxofibrosarcoma of the neck arising secondary to earlier chemotherapy and radiotherapy. Material and methods: A 61-year-old male received chemotherapy plus radiotherapy in 1983 for nodular sclerosing Hodgkin's lymphoma. Twenty-six years after completing treatment, the patient developed a grade II myxofibrosarcoma involving radiated soft tissue on the left side of the neck. Results: The tumor was removed. The tumor mass weighed 90 g and measured 6 × 5 × 4.5 cm and the histological examination revealed a grade-II superficial malignant myxoid spindle-cell tumor displaying a multinodular growth pattern. Immunohistochemical staining was positive for CD34 and negative for smooth muscle actin and desmin. Conclusions: Given the increasing use of adjuvant therapies, particularly in the early stages of cancer, patients should be closely monitored to ensure detection of radiation/chemotherapy-induced sarcomas.

It is not rare, that in patients undergoing multiple laparotomies there is a tissue loss with accompanying surgical site infection that enables abdominal wall closure with the use of the standard techniques. There are no level 1 statements imposing specific procedure in such difficult situations. However, it is generally recognized that synthetic meshes should not be implanted in the contaminated field.

Bronchogenic cysts, although rare, are one of the most common primary mediastinal masses; symptomatic presentation
is infrequently seen in adults. Most adults with a bronchogenic cyst may go through life without knowing that
they have one. We present a case of a symptomatic bronchogenic cyst in an adult female. Typically, bronchogenic
cysts are located in the superior and medial aspects of the mediastinum; our patient presents with an extremely rare
presentation. The cyst was adherent to both the esophagus and pericardial surface.

Asthma is a chronic inflammatory disorder of the airways which is characterized by recurrent episodes of airway
obstruction, associated with airway hyper responsiveness that leads to symptoms of dyspnea, wheezing, chest
tightness, and/or coughing. Omega shaped epiglottis is a type of laryngomalacia which is a result of curling on itself
of the epiglottis because of shortened aryepiglottic folds.

Lymphangioma is a benign congenital malformation of the lymphatic tissue that occurs predominantly in children
and clinically presents as a soft painless swelling, compressible of oral mucosa. Usually affects male individuals and
the most common intraoral location is the tongue. Surgical excision is the treatment of choice and the prognosis is
good. It is describes a case of lymphangioma in a non-caucasian 82 years old female. Intra-oral examination
revealed the presence of reddish papules, with 0.5 cm in diameter, painless, flaccid consistency and smooth surface
in the anterior hard palate. Excisional biopsy was performed and the histopathologic diagnosis was lymphangioma.
After seven months follow-up, the patient has no recurrence of the lesion.

Primary extra-pulmonary small cell carcinomas (SCC) are rare, with <40 cases reported in the current literature. Only 1% of all primary upper urinary tract tumors are SCCs. We present a new case of a primary SCC of the right upper urinary tract. A 78-year-old male patient presented with frank hematuria and a lump in the left posterior triangle of his neck. CT imaging revealed a right renal pelvic mass associated with suspected liver metastases, cervical and retroperitoneal lymphadenopathy. Rigid ureteroscopy demonstrated a tumor involving the right ureter. Immunohistochemical analysis of neck and ureteric biopsies revealed high proliferative activity and positive CD56 and TTF1 markers, in keeping with a diagnosis of small cell carcinoma. The patient was offered systemic chemotherapy, which he declined. He developed further skeletal metastases and underwent treatment with radiotherapy and dexamethasone. He succumbed to his illness 13 months after initial presentation. >40% of SCCs of the urinary tract are metastatic on presentation. In these cases, surgical options are limited and prognosis is poor. The literature suggests that neoadjuvant chemotherapy in organ-confined disease improves clinical outcome. However due to rarity of cases, there is limited evidence to guide management of metastatic SCC.

Hearing loss has a broad differential diagnosis. Hearing impairment responding to corticosteroids is suggestive of an underlying autoimmune cause. We report a rare case of Cogan’s syndrome in a 28-year-old woman with no previous personal medical history. She had experienced two years of fluctuating hearing loss and bilateral keratitis that would respond to high-dose prednisone prescribed by her otorhinolaryngologist. We performed a complete work-up and ruled out most common causes of autoimmune inner ear diseases. Patient was diagnosed with Cogan’s syndrome based on clinical findings and prescribed corticosteroid-sparing immunosuppressive medication. During follow-up, she developed worsening fatigue, new onset anemia, and melena. Endoscopic and pathologic findings were diagnostic of Crohn’s disease. This case emphasizes the high prevalence of concomitant autoimmune diseases.

We describe a case of re-endovascular aortic repair after endovascular aortic repair for acute type B aortic dissection, complicated by visceral, renal, and leg malperfusion. We performed endovascular aortic repair to cover the primary entry tear at the distal thoracic aortic arch in a 62-year-old male with visceral, renal, and leg malperfusion, after 4 days of conservative therapy. After the first operation, the pressure differential between upper and lower limbs disappeared. However, bilateral leg ischemia appeared at postoperative day 2. CT showed that the true lumen was severely compressed again by a thrombosed false lumen and two re-entries appeared at the level of the proximal celiac artery and infra-renal abdominal artery, respectively. The distal edge of the stent graft was intact with no new stent graft-induced entry. We once again performed endovascular aortic repair by means of thoracic and abdominal stent grafts covering the re-entry tears at the level of proximal celiac artery and infra-renal abdominal artery. After the procedure, the leg ischemia, renal ischemia and mesenteric ischemia improved, and the patient was transferred back to the local hospital without paraplegia.

Introduction: Dunbar syndrome consists in a rare vascular disorder characterized by extrinsic compression of the celiac artery. This mechanic compression results in symptoms related to intermittent mesenteric ischemia. The goal of treatment is to release celiac artery compression and to restore vessel patency. Here we report two cases treated in our Surgical Department over the last four years. Case Report: A young female of 28 years-old, L.P., and 57-year-old men, E.G., both affected by recurrent post-prandial diffuse abdominal pain, diarrhea and weight loss came to our observation. A complete abdominal evaluation associated to radiologic exams made the diagnosis of CAC syndrome. Both patients were referred to a 3D laparoscopic surgical treatment of CACS with release of the median arcuate ligament. Vessels patency was checked intra-operatively using ecolaparoscopy. Conclusion: Median arcuate ligament section is the treatment of choice in Dunbar Syndrome, a rare vascular syndrome caused by extrinsic compression of the celiac trunk by a lower-inserted muscular bridge that connects the two crura of the diaphragm and crosses over the abdominal aorta. Minimally invasive 3D laparoscopic approach is ideal to treat Dunbar syndrome for the high definition and magnification of the 3D visualization. We perform an intraoperative laparoscopic duplex ultrasound investigation in the initial phase of the operation and at the conclusion of the procedure to assess the effectiveness of the treatment.

A 61-year-old woman was diagnosed with right inguinal lymph node and splenic metastasis of ovarian serous cystadenocarcinoma. We performed right inguinal lymph node dissection and total laparoscopic splenectomy in the supine position followed by transvaginal specimen extraction (TVSE). First, using three ports, we extracted the right inguinal lymph node. We repaired the posterior wall of the inguinal canal using a mesh plug. We added two ports and displaced the spleen from the retroperitoneum and lifted it using a snake retractor, disconnecting the hilum using an automatic suturing device. Next, the posterior wall of the vagina was intraperitoneally incised and an Alexis® laparoscopic system was inserted into the vagina. The cap maintained aeroperitoneum, a collection bag was inserted in the abdominal cavity via the vagina, and the spleen was collected. When the spleen was removed from the body, partial fragmentation of the organ was required in the bag. Organ fragmentation was performed only within the bag, and we made sure not to tear the bag. The vaginal wound was laparoscopically sutured. The patient had no operative complications and was able to actively ambulate at first day after surgery due to a slight postoperative pain. Total laparoscopic splenectomy with TVSE in the supine position may be a safe and feasible method for selected female patients. This technique enables minimally invasive surgery for female patients with splenic disease.

Background: Purpose of this case report is to describe, for the first time in literature assessed by optical coherence tomography (OCT) and visual evoked potentials (VEP), a rare case of partially reversible unilateral vision loss accompanied by retrobulbar optic neuritis symptomatology, after nasal polyps removal using endoscopic sinus surgery (ESS) technique. Case presentation: A 41-year old Greek male developed unilateral vision loss, partially reversible within 72 hours, reduced color vision, superior scotoma and retrobulbar pain on eye movement immediately after recovering from nasal polyp removal with (ESS) technique. He underwent complete ophthalmological examination including optical coherence tomography, fluorescein angiography, visual fields and visual evoked potentials. A magnetic resonance imaging (MRI), neurological examination and laboratory evaluation were also performed revealing no abnormalities. Conclusions: Sinus surgeons and ophthalmologists should be familiar with the possibility of irreversible visual impairment after endoscopic sinus surgery and enhance collaboration for facilitating better recognition and early treatment.

Familial Mediterranean fever (FMF) can be classified into typical and incomplete/atypical types. An accompanying of severe abdominal pain by the serotitis is characteristic of typical FMF. Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome-like symptoms has been found in atypical type carrying P369SR408Q mutations in the responsible gene MEFV. FMF with both symptoms is extremely rare. An 8-year-old boy has had recurrent fever accompanied with both of severe abdominal pain and PFAPA like symptoms, carrying heterozygous alterations involving E148Q/P369S/ R408Q. The Corticosteroid resulted in partial benefit, but not clear effect by the colchicine, and persistent cure was not obtained by tonsillectomy.

Cardiac resynchronization therapy (CRT) diminishes symptoms and reduces hospitalization and mortality in patients with heart failure, LV dysfunction and left bundle branch block. However, up to one third of patients do not respond to CRT. In that regard, few initial studies presenting multisite pacing have shown encouraging results, demonstrating both feasibility and safety in placing a second CS lead in >80% of patients intended, with further QRS shortening, which is the most powerful predictor of LV reverse remodelling.

Objective: Granulocyte-colony-stimulating factor (G-CSF) is routinely used to mobilize stem cells for peripheral blood stem cell (PBSC) collection by leukapheresis. Although generally considered safe and effective, G-CSF has been reported to cause severe side-effects in rare cases. Methods and Results: We report a case of a 65-year-old woman with diffuse large B-cell lymphoma, who received G-CSF for PBSC mobilization for ten days and developed fever of unknown origin. She was diagnosed with giant cell arteritis (GCA) related to G-CSF with aortic involvement based on typical findings obtained by contrastenhanced computed tomography and treated with high-dose prednisone. Conclusion: GCA might have to be considered as a rare but severe side effect of G-CSF administration. Imaging studies may help to identify large vessel vasculitis in cases that cannot be confirmed by tissue biopsy.