Journal of Clinical Case Reports

Hypophosphatasia is a rare inherited skeletal disorder characterized by defective bone mineralization and tissue non-specific alkaline phosphatase (TNSALP) deficiency, with mutations in the gene encoding the TNSALP isozyme the cause. As for dental manifestations, premature loss of primary teeth due to disturbed cementum formation is well known and tooth roots in affected patients are not able to adequately attach to absorbed alveolar bone due to malformed cementum. We report spontaneous early exfoliation along with mild to severe mobility of primary anterior teeth in 2 child patients referred to pediatric dentists from a general dental practitioner. Case 1 was a 1-year-7- month-old boy with 3 mandibular incisors exfoliated, while Case 2 was a 3-year-3-month-old girl with 1 mandibular central incisor exfoliated. The possibility of hypophosphatasia was considered and the patients were referred to the Pediatric Clinic of Osaka University Medical Hospital, where each was diagnosed with hypophosphatasia (odonto type). We performed repeated periodontal treatments and applied removable partial dentures in both cases, which solved esthetic and functional problems. Although the incidence is quite low, it is important to diagnose hypophosphatasia as early as possible for planning general and dental preventive approaches. In patients with mild forms, such as odonto and childhood types, early exfoliation of primary teeth identified in a dental examination can occasionally lead to early diagnosis of hypophosphatasia. In addition, dental findings obtained by a dentist are useful to identify patients with a risk of hypophosphatasia, who can then be immediately referred to a pediatrician for more detailed systemic examinations. Thus, a cooperative relationship between pediatricians and pediatric dentists should be regarded as necessary. This is the first known report to describe cases of hypophosphatasia diagnosed after referral from a pediatric dentist because of typical dental findings for the disorder.

Anterior knee pain is a frequent, yet relevant, symptom since mediopatellar plicae are found in approximately 20% of normal knees. We report the rare case of a painful mediopatellar plica and cord-like structure complex covering the suprapatellar pouch in the knee joint. The patient was a 13-year-old girl who complained of left anterior knee pain with restricted range of motion that had started 1 year earlier. She underwent arthroscopic treatment after unsuccessful conservative therapy. Intraoperative findings included a Sakakibara classification Type B mediopatellar plica and band-like structure complex located in the suprapatellar pouch of the knee. As Type A and B plicae are generally asymptomatic, the cause of the pain in this case was presumed to be impingement of the mediopatellar plica by the cord-like band. The plica and band-like structure complex was resected and ablated by arthroscopy. The patient was pain-free several months postoperatively and could resume normal school life. Since she was an adolescent in her growth phase, it is possible that joint growth resulted in tension on the remnant of the plica connected with the band-like structure in the suprapatellar pouch, which then intruded into the medial aspect of the patellofemoral joint and resulted in her symptoms.

Objective: Owing to the growing number of cesarean deliveries, the abnormally invasive placenta-tion so called placenta accreta rate is increasing. Placenta accreta is difficult to manage and traditionally resolved by cesarean hysterectomy after the birth due to the following massive hemorrhage. In recent years different conservative treatments leaving partially or totally the placenta in the uterine cavity have been reported in patients willing to preserve their fertility. Methods: We reviewed literature data about conservative management of placenta accreta in the PubMed, Researchgate and Medline from 2007 to date. We included in the review the studies about the use of methotrexate (MTX) for conservative treatment of placenta accreta. Results: We reported 2 literature reviews and 4 studies about the use of MTX in the management of placenta accreta and 2 unpublished cases treated in our Department. MTX is administered when it is not possible to remove totally or partly the placenta accreta in order to promote the cytolysis of the residual trophoblast. The schedule and outcome of the methotrexate use have not been established yet due to the paucity of literature data. Conclusions: The role of MTX to improve both, the feasibility and success rate of conservative management and placental resorption needs further studies. Hemodynamic stability of patients and informed consent are prerequisites before starting MTX treatment. Vaginal bleeding and infections may complicate the conservative treatment and close surveillance is recommended by imaging techniques and laboratory parameters.

A 70 year-old woman underwent a dual-chamber pacemaker implantation for episodes of transient block and syncope. The transitional zone of her ECG was observed between V4 and V5, indicating clockwise rotation. An experienced physician performed the Right Ventricular Outflow Tract (RVOT) pacing using an active fixation lead without any immediate complications. For RVOT pacing, the lead was placed approximately two-thirds of the distance from the apex to the pulmonary valve in the postero-anterior view and pointing towards the septum in the left anterior oblique view. The ECG revealed a narrow QRS (120 msec) and the lead I morphology was minus-plus. Six days post-implant, a pacemaker interrogation revealed ventricular undersensing and loss of capture with high output pacing. Chest computed tomography revealed the left ventricle was displaced to the left and the left-sided angle between the interventricular septum and horizontal axis of the body was reduced to 16°. It confirmed an RV lead perforation through the RVOT, with 1 cm of the lead positioned outside the heart. We performed a surgical repair. Though ECG and x-rays showed septal pacing, we experienced an unusual case of a subacute myocardial perforation caused by an active fixation lead possibly due to heart rotation. The present case report described a patient with a subacute lead perforation and no hemodynamic instability. It is important for the general cardiologist to pay attention to heart rotation. After implantation, symptoms that can suggest a lead perforation, as major signs such as pericardial effusion are not necessarily present. A pacemaker interrogation shows lower impedance, as well as undersensing or failure to capture the involved chamber in suspicious findings.

The success of high pressure source ventilation is entirely dependent upon upper airway patency to facilitate passive expiration and prevent increasing intrathoracic pressure and its associated deleterious sequelae. Distortions in airway anatomy may make passive expiration inadequate or impossible in some patients.

Introduction: Epidermolysis bullosa acquisita is a rare, autoimmune subepidermal bullous disease. Besides blisters appearance which heals with scars and milia cysts formation, nails undergo different changes: onychomadesis, onycholysis, onychorrhexis and matrix destruction. Case report: We present the case of a 59 years old patient, which showed multiple blisters, erosions, crusts located on the elbows, knees, hands, and feet; some lesions healed and formed hypo or hyperpigmented. scars in the evolution. On the scalp were observed areas of scar alopecia. In the oral cavity there were extensive erosions, painful dysphagia to both solid and liquid food, which in time contributed to significant weight loss. To the fingers and toes, the patient underwent nail loss, these being to be replaced with scar tissue. The only remaining nails are at the fourth and fifth fingers of both hands, but also those showing lesions of onycholysis and onychorrhexis leading to a thin epidermal nail. Conclusions: Our case report is the third case described in the literature. Onychomadesis manifestations and nail absence, although rare, complete the cutaneous manifestations of Epidermolysis bullosa acquisita.

The patient was an 81-year-old male. His blood tests revealed a mild hepatic dysfunction and an abnormally high Carbohydrate antigen 19-9 (2,830 U/ml). Ultrasonography, contrast-enhanced computed tomography and magnetic resonance cholangiopancreatography were carried out, and showed that the gallbladder was filled with microcalculi, that the gallbladder was enlarged, and that the gallbladder wall had thickened; however, no calculi were found in the common bile duct, and positron emission tomography was performed for the detection of malignancies but the findings were poor; therefore, the condition was diagnosed as calculous cholecystitis, and cholecystectomy was performed. The pathological findings indicated a xanthogranulomatous cholecystitis, and the levels of Carbohydrate antigen 19-9 returned to normal immediately after surgery. The immunostaining of Carbohydrate antigen 19-9 showed that epithelial mucosa of the gallbladder, cytoplasm of multinucleated foreign-body giant cells, and infiltrating macrophages were positive, and suggested that the abnormally high levels of Carbohydrate antigen 19-9 may have been due to xanthogranulomatous cholecystitis. In some cases, Carbohydrate antigen 19-9 levels can be high in benign diseases such as cholangitis and pancreatitis, but markedly high levels are rare. Only two cases of xanthogranulomatous cholecystitis have been reported to have shown abnormally high Carbohydrate antigen 19-9 that returned to normal after cholecystectomy. We report our experience along with a discussion based on the literature.

We report a case where hemostatic fleece (TachoSil) was misinterpreted as residual disease on imaging after macro-radical surgery for ovarian cancer. Laparotomy was performed on a 51 year-old woman due to ovariancancer. At surgery, carcinomatosis was identified on the diaphragm with growth intothe diaphragmatic muscle. Total hysterectomy, bilateral salpingooophorectomy, omentectomy, pelvic and paraaortic lymphadenectomy, diaphragmatic peritonectomy, appendectomy and resection of sigmoid colon were performed. During surgery an incidental small liver lesion occurred and hemostatic fleece was applied for hemostasis. Total cytoreduction was achieved. The pathology report demonstrated stage IV serous ovarian cancer (grade III). The patient was therefore referred to the Department of oncology for six series of Paclitaxel/Carboplatin. A baseline CT scan revealed an area above the liver initially described as residual disease. At the multidisciplinary conference the CT scan was revised and compared with the surgical report and it was concluded that the suspected area concurred with the hemostatic fleece applied during surgery and not a sign of residual disease. After two months of adjuvant chemotherapy, a follow up CT scan revealed almost total regression and after six months, a MRI demonstrated almost no signs of the hemostatic fleece or recurrent disease. The patient is still disease free after18 months. Application of a hemostatic fleece may initiate inflammatory changes causing imaging artifacts. We, therefore, emphasize the importance of reporting in the operation note the specific location of hemostatic fleece applied during surgery to avoid hemostatic fleece being misinterpreted as residual disease on imaging.

Introduction: Congenital pseudarthrosis of the radius or ulna is rare and less common than congenital pseudarthrosis of the tibia. It may lead to deformity, pain and functional impairment. Objectives: Remind that conventional fracture treatment as non-surgical treatment or open reduction and internal fixation is not successful in congenital pseudarthrosis. Case: A missed diagnosis of an 8-year-old girl with late onset pseudarthrosis of both radius and ulna associated with neurofibromatosis is presented. In this case, inadequate initial treatment led to poor results. The use of free vascularized fibular grafts is known to be effective to treat this condition but has some local and lower limb morbidity. Final success was obtained with large resection and bone transport. Conclusion: It is important to recognize the entity to avoid failure of treatment.

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Background: Hyperoxaluria may be either inherited or acquired. Primary Hyperoxaluria (PH) is a rare autosomal recessive disease characterized by increased endogenous oxalate production and accumulation in renal and extrarenal tissues. The excess oxalate is excreted in the urine and frequently patients with PH present signs or symptoms related to kidney stones and progressive nephrocalcinosis. Here we present a case of a young man with an unexplained progressive renal failure, without symptoms of nephrolithiasis or nephrocalcinosis. Renal biopsy examination was performed to clarify renal dysfunction. Kidney biopsy showed a glomerular and tubulo-interstitial nephropathy by oxalate deposits. Genetic testing was used to confirm histopathological evaluation, demonstrating the c.731T>C mutation at exon 7 of AGTX gene. Conclusions: This case of PH type 1 was peculiar for the clinical presentation (renal failure without evidence of urolithiasis or nephrocalcinosis) and for the glomerular histopathological aspect of oxalate deposition. To our knowledge, this is the first demonstration of CaOx deposition in the glomeruli to be reported in the literature. The histopathological diagnosis enable us to study in deep the bio-humoral profile of the patient and to reach an accurate diagnosis.

The present study reports a case of a 64-year-old man was admitted for sudden collapse. On auscultation, new grade 4/6 continuous murmur were detected and was best heard along the right sternal border. Blood culture yielded Staphylococcus haemolyticus and Escherichia coli. Despite appropriate antibiotic treatment, the patient’s condition deteriorated and he developed multiple organ failure. Transesophageal echocardiography revealed echofree spaces with periannular abscess, and two perforations at the noncoronary sinus of Valsalva aneurysms. This case was about an unusual case of prosthetic aortic valve infectious endocarditis with periannular abscess formation and noncoronary sinus of Valsalva aneurysms rupturing into the right atrium and right ventricle.

Metastatic thyroid gland tumor is an uncommon finding in clinical practice. We report a case of metastatic renal cell carcinoma (RCC) to the thyroid gland, associated with a Papillary Thyroid Carcinoma (PTC), in a patient who had undergone left nephrectomy for RCC 6 years earlier and operated on in our Institution for a multinodular goiter disease. Immunohistochemistry can be helpful for the differential diagnosis. Metastatic cells of RCC were positive for CD10 and vimentin and negative for thyroglobulin, calcitonin, and TTF-1. Papillary carcinoma cells were positive for Cytokeratin 19, galectin-3, CD56 and Hector Battifora Mesothelial cell monoclonal antibody-1. The association between papillary thyroid carcinoma and RCC is a rare condition and maybe must not be considered a fortuitous development of 2 different neoplasms.

62 year old female underwent closed reduction of subtrochanter fracture by the minor trauma. She was checked quantitative computerized tomography (QCT) for the bone mineral density. It showed highly elevated density above the normal range. She could easily take the bisphosphonate for 3 and half years without regular evaluation of the bone mineral density. The fracture was bilateral and atypical fracture pattern in the subtrochanter area. These kinds of fracture were occurred in the osteoporotic bones in the previous literature, so we hardly conclude the culprit of bisphosphonate related atypical fractures. The prevalence of these kinds of insufficiency fracture among the normal population and bisphosphonate medicated patients has been still debated but we can strongly suggest that our fractures were related to the bisphosphonate medication because she was a nonosteoporotic bone who took a bisphosphonate medication.

A 25-year-old man suffered from repeated attacks of orthodromic atrioventricular reciprocating tachycardia utilizing a left lateral accessory pathway (AP) for retrograde conduction. The catheter was approached through the aorta to map the AP and was entrapped in the mitral valve apparatus, and it had a broken internal wire. A snareassisted technique was successfully utilized to retrieve the catheter.

A case of acquired uterine Artero-Venous malformation (AVM) is reported aiming at describing the correlation between findings at transvaginal sonography and pathologic examination of the uterus.

A 57-year-old man was hospitalized with chest pain of 1-h duration. Emergency coronary angiography revealed a total occlusion of a non-collateralized distal (segment 3) right coronary artery by a large thrombus. Multiple aspiration thrombectomies of the segment 3 lesion were performed, after which the thrombus migrated inside the guiding catheter. To prevent systemic embolization at the time of extraction, a double guiding procedure was performed to ensure that no thrombus was protruding from the tip of the catheter. The guiding catheter and a large red thrombus were ultimately safely extracted, while maintaining negative pressure in the catheter lumen with a syringe. The patient was discharged from the hospital on the 14th day free from chest pain. The histopathology of the aspirated thrombus was consistent with a coronary arterial embolization. This case indicates that, in patients with acute MI, aspiration thrombectomy performed for the prevention of thrombotic embolization can be safe and effective.

Pulmonary fibrosis associated with various connective tissue diseases often presents insidiously but can progress to rapid deterioration. Previous studies have shown that, in the patients with connective tissue diseases, the presence of pulmonary fibrosis has prognostic implications and therefore early detection may be essential in the management of these patients. Our case outlines the close association between pulmonary fibrosis and idiopathic polymyositis. We report the findings of a patient who presented with slow onset progressive exercise dyspnea followed by proximal muscle weakness and joint and skin changes.

This is a case where actual applied statistics will reveal a worse prognosis, despite all therapies that are already applied. Despite this calculated prognosis, the patient decision to save his foot was the best one. New medical therapies and surgical procedures could improve the prognosis for this kind of cases.

Polyarteritis Nodosa (PAN) is a vasculitis of unknown origin that affects the medium and small arteries of our organ system. Isolated Polyarteritis Nodosa is a rare condition that may be due to modulation of local immune reaction by exposure to certain local triggering agent without any systemic immune reaction. Symptomatic PAN confined to the testis in hepatitis B infection is extremely rare and not reported frequently. We report a case of isolated testicular PAN in hepatitis B infection with chronic unilateral testicular pain and successfully treated by interferon α, systemic steroid and cyclophosphamide for 7 month.

Giant cell arteritis (GCA) is a chronic vasculitis involving medium and large sized arteries. A 73-year-old male presented with right eye visual loss and jaw claudication associated with photosensitivity, supraorbital and retrobulbar pain. Evaluation demonstrated bitemporal tenderness, elevated ESR, CRP, leukocytosis and positive PANCA. Stranding and abnormal enhancement of right retrobulbar fat along the optic nerve sheath complexes was noted on MRI. Emergent biopsy of right temporal artery showed giant cell infiltration, disruption of internal elastic lamina with medial dissection. Despite steroid therapy, blurry vision in the left eye progressed to blindness. Tocilizumab infusion was initiated without much improvement. Interleukin 6 levels correlate with disease activity and severity in GCA. Glucocorticoids reduce inflammation by decreasing IL-6; however in refractory cases, the use of interleukin 6 antagonists may aid in rapid induction of remission. Blindness is a serious and irreversible complication of GCA, which makes early detection and treatment paramount.

Breast cancer is the most frequent cancer and the leading cause of cancer-related death among females. Up to 30 percent of women with early-stage, non-metastatic breast cancer at diagnosis will develop distant metastatic disease. Renal metastasis from the breast cancer is a rare entity. We report a case of synchronized double primary breast cancer with isolated solitary metastatic to the kidney. Non-specific symptoms were occurred in routine surveillance after 4 years of initial diagnosis. 3-phase-CT and 18-F FDG PET-CT was performed subsequently. Left radical nephrectomy was performed. The histo-pathological diagnosis with immunohistochemistry was confirmed the metastasis from breast cancer. Breast cancer metastatic to the kidney may present a solitary renal mass, which mimics a primary renal tumour.

Background and Importance: Approximately 20 percent of parenchymal pineal tumors (PPT) arise from the epithelial cells and are extremely rare, especially in adults, accounting for less than 1 percent of all primary brain tumors in Europe and North America. PPT of intermediate differentiation (PPTID) was recognized as a new entity and introduced in the 2007 WHO classification, corresponding to grades II (GII) or III (GIII). Previous studies had suggested its potentially aggressive behavior and tendency for cerebrospinal fluid seeding. A standard treatment for these tumors has not yet been defined. The gross total surgical resection is indicated whenever technically feasible and the impact of adjuvant radiotherapy and chemotherapy is not established. In fact, little is known about the radiation and chemotherapy sensitivity of these tumors. Clinical Presentation: We describe a case of a recurrent PPTID (G II, Ki67:10%) which underwent to an endoscopic third ventriculostomy, biopsy and a two conformal radiation therapy course (25 fractions of 180 cGy over 4 weeks and, 3 fractions of 180 cGy, total of 5400cGy). After that, the patient was completely asymptomatic and an MRI revealed no residual mass. There was no sign of relapse by the 27-months follow-up. Conclusion: Given the paucity of good clinical evidence for a standard therapy and the fact that the currently PPTID treatment is experience-based, we conclude that radiotherapy can be considered as suitable possibility of primary treatment. Due to its rarity, prospective multi-institutional studies should be arranged to establish the optimal PPTID management.

Metaphyseal dysplasia is a very rare inherited bone disorder. Here is a case report and possible treatment options for 11 years old child, detected by Karuna foundation Nepal.

Primary primitive neuroectodermal tumors (PNET) are a group of malignant neoplasms composed of sheets of uniform small round cells that exhibit neuroblastic differentiation outside the nervous system. They are closely related to Ewing’s sarcoma and predominantly affect children and adolescents. There are few reports of primary visceral PNET’s in the literature, most of them in the urogential organs, and even fewer reports of PNET’s of the urinary bladder. Thus, every case counts in increasing the pool of knowledge as far as the symptoms, risk factors, histopathology and treatment of this rare and aggressive entity. We present such a case.

Incarcerated inguinal hernia is one of the emergency operations for delay diagnosis may cause serious dreadful effects such as bowel obstruction, bacterial translocation with sepsis, intestinal wall necrosis, bowel perforation, or even death. On the other hand, inflammatory pseudotumors (IPTs) were first described by Brunn, but their cause remains unknown. These benign lesions are common in children and young adults, but they can also occur in elderly adults. An 88-year-old Chinese man was referred to our hospital with a painful mass in his right inguinal region for 3 days. The patient complained about abdominal fullness, poor appetite, and right groin painful and an enlarged lesion in his groin site since five days ago. Physical examination revealed a tender, painful, untouchable, and nonpulsatile mass lesion in the right groin area. Non-specific bowel gas and stool impaction in the KUB. Ultrasound and color Doppler images showed a laminated and well-defined mass on the right inguinal region with a hypoechoic center without blood flow signals and increased peripheral vascularity, which was similar to a bowel loop through the inner ring into the inguinal canal. Computed tomography revealed a soft tissue mass-like lesion in right inguinal area. We performed an emergent exploratory laparotomy under a tentative diagnosis of an incarcerated hernia, but just found a mass in the hernia sac during the operation. Histopathologic examination showed typical findings of the IPT. The patient was followed for 6 months without evidence of local recurrence or distant metastasis. As it is nearly impossible to make a correct judgment prior to operation, surgical resection is usually required for diagnosing IPTs.

Vasoactive intestinal peptide (VIP)-producing tumors account for 10% of all neuroendocrine tumors of the pancreas. The Verner-Morrison syndrome is caused by VIP-producing tumors. It is a rare entity with an incidence of 1/10 million individuals per year. About 800 cases have been reported worldwide. Pancreatic VIPomas are usually solitary. Clinical manifestations are long-standing secretory diarrhea associated to biochemical abnormalities such as hypokalemia, hypochloremia and metabolic acidosis, presentation as acute diarrhea is rare. Up to 60% of tumors are malignant and among these, 60-80% have metastasized at diagnosis. Part of the symptomatic treatment is based on somatostatin analogs; definitive treatment depends on the disease’s extent but surgical resection is the treatment of choice of localized tumors.

Bowing of long bones may be secondary to several aetiologies. Among the causes for bowing of long bones include congenital and acquired form of rickets, skeletal dysplasia, osteogenesis imperfecta and renal tubular acidosis (RTA).