Journal of Clinical Case Reports

Osteogenesis imperfecta is main symptom in an autosomal recessive Jeune syndrome. Odontogenic infection by dentinogenesis imperfecta and poor oral hygiene is not known and Infective Endocarditis (IE) as a life threatening complication is the first report in Jeune syndrome. Case: A 13-year-old female patient presented with fever, disturbed consciousness, and convulsion. She had Jeune syndrome with mitral regurgitation and mental retardation. Cerebral hemorrhage, vegetation of mitral valve and poor oral hygiene demonstrated clinical definite diagnosis of IE by Duke Criteria. Bacterial aneurysm would cause to be cerebral hemorrhage that was no worsening by Computed Tomography. Vancomycin or Linezolid was treated after MRSA was detected in blood culture. Decayed teeth were removed as source of IE. Consciousness level and inflammation response were improved and no sign of infection was confirmed by frequent echocardiogram and blood culture. Outcome: Patient was discharged the hospital after she had no symptoms with appropriate treatment. Conclusion: Observation of oral hygiene and consideration of IE as the differential diagnosis are beneficial in a severe infectious disease of unknown origin with osteogenesis imperfecta, Jeune syndrome. Antibiotics therapy, oral hygiene and teeth extraction are effective for IE caused by decayed teeth with dentinogenesis imperfecta.

A 71-year-old man reported sudden, painless loss of the superior visual field of the right eye three days ago. Best-corrected visual acuity was 20/32 on the right and 20/25 on the left eye, a relative afferent pupillary defect was absent. Slitlamp-biomicroscy and dilated fundus exam were normal. Time-domain Optical Coherence Tomography (OCT) of the macula, pattern visual evoked potentials and multifocal electroretinography were normal. Magnetic resonance imaging of the brain showed an infarction located in the right parieto-occipital area, inconsistent with the visual field defect. 2 weeks later fundus examination showed two cholesterol emboli in the inferior temporal retinal artery, OCT showed retinal thinning of the inferior macula. Conclusion: Branch retinal artery occlusion may initially present without morphologic and electrophysiological evidence. Re-evaluation at a later time should reveal typical findings such as retinal thinning.

Background: Trigger finger is a rare condition in children and it is even more uncommon in the 5th finger. The etiology of Trigger finger includes congenital cases, which are the most common and usually affects the thumb; posttraumatic cases, more frequent after penetrating injury; and tumoral cases. Methods: In this paper, we report a post-traumatic trigger finger on a 2-year-old girl who was seen in our clinic complaining of triggering in her small left finger, following a slight contusion. As far as we know there is no previous report of this condition involving the fifth finger in toddlers. Conclusions: The natural history of pediatric trigger finger is poorly characterized due to the small number of retrospective cases series available. Based on our experience, the methodology to be followed would be, after a thorough history and after ruling out concomitant pathology, if a congenital trigger finger in a child come into our clinic, the most successful resolution is release of the A1 pulley.

Introduction: Pulmonary sclerosing haemangioma (PSH) is a benign tumour, also known under the term “pneumocytoma”. It is a rare disease, of low grade of malignancy possibly originating from type II pneumocytes or Clara cells. It is mostly notified in older females and is usually solitary. According to the histological appearance, sclerosing haemangioma could be: papillary, sclerotic, solid and haemorrhagic. Case Report: A 40-year old female patient, smoker, was hospitalised because of the surgical curing mostly asymptomatic lesion in the lower right lobe. The lesion has been radiologically diagnosed a few years before, and regularly controlled by a Computed Tomography (CT). During the last control, the growth of the lesion was noted and the surgical curing indicated. After clinical examinations, by using Video Assisted Thoracoscopy (VATS), the exploration and precised identification of the well vascularised lesion was performed and the atypic resection of the whole tumour was done. The tumour was hystologically established as sclerosing pneumocytoma, containing two types of cells cuboidas and ovoid, with the same immunophenotype. The following controls have pointed out neider recidive nor malignant alternation. Conclusion: Sclerosing haemangioma should be considered in patients with radiologically diagnosed “coin– like” lesions of a solid as well as multiple type. The complete surgical resection is considered the only effective treatment for PSH, and the normal pulmonary tissue should be reserved as possible.

Metastatic tumours to the nasal sinus are an exceedingly rare event. We describe a case of metastases to the nasal sinus simultaneously with brain metastases from a colonic adenocarcinoma. An 85-year-old man came to our hospital presenting epistaxis and headache. Diagnosis of the biopsy specimen showed it was a metastasis of the previously managed tumour. The patient underwent palliative radiotherapy.

Popliteal artery injury is associated with high energy injury, including knee dislocation and complex tibial plateau fractures or supracondylar femur fractures. Delay in its diagnosis is the leading cause of amputation in this limb-threatening injury and the failure to revascularize within 6–8 hours results in an unacceptably high amputation rate.

Low back pain is common in pregnancy secondary to the hormonal effects on the musculoskeletal system together with the mechanical strain of the pregnant abdomen. An underlying spinal pathology is rare, with disc prolapse being the most common, affecting 1 in 10,000 pregnant women1. Disc prolapse may cause permanent neural deficit in pregnancy. The complexity of managing such a patient requires a multidisciplinary approach involving the obstetrician, community midwife, physiotherapist, health visitor, General Practitioner (GP), anaesthetist, neonatal and spinal teams as seen in our this case report. The plan of care will involve the management of pain and reduced mobility symptoms, choice of analgesia, the social impact of this in the context of a working woman with dependants, consideration of the risk of Venous Thromboembolism (VTE), the potential need for surgery and the influence that this may have on the mode and timing of delivery.

Sotos syndrome is a genetic condition characterized by excessive growth both prenatally and postnatally, macrocephaly, distinctive facial gestalt, various degrees of learning difficulty and additional clinical features. We report on a 14-month-old male infant with the clinical diagnosis of Sotos syndrome, who was also found to have polycystic kidneys that were first detected by renal sonography at the age of 4 months. This association has been reported only once previously in a patient with Sotos syndrome where autosomal dominant polycystic kidney disease segregated independently in the family. We discuss the possible urogenital findings in Sotos syndrome as well as the association between this syndrome and polycystic kidney disease.

Background: Camptocormia (bent spine syndrome) is an acquired postural disease characterized by forward flexion of the thoracolumbar spine. Dropped head syndrome is characterized by severe weakness of the cervical paraspinal muscles, resulting in gradual sagging of the head and culminating in the classic chin-on-chest deformity. Objective: To report, for the first time, a case of dropped head syndrome and camptocormia in the same patient. Methods and results: A 68-years-old man was diagnosed with base tongue squamous cell carcinoma, surgically removed. He had local recurrence and underwent radiosensitive chemotherapy and radiotherapy (35 fractions of 70Gy). After 12 months, he developed progressive cervical extensor muscle weakness, and a flexible chin-on-chest deformity, treated with passive reduction and C3-T3 fixation. Three months later, camptocormia was diagnosed, and initially treated conservatively. Ten months later, the deformity became rigid, and he was operated with Ponte and pedicle subtraction osteotomies in thoracic and lumbar spine, and C3 to sacrum arthrodesis with instrumentation. The patient resumed professional activities by the third month. Oncological screening showed no tumoral recurrence or distant metastases, after one year from last surgery. Conclusion: This is the first report of dropped head syndrome and camptocormia in the same patient, due radiosensibilizing chemotherapy for a nasopharyngeal carcinoma.

A six years old male child presented with gradually progressive distension of abdomen since one year of his age. Imaging suggested it as a large mesenteric cyst. Further evaluation and intra-operative findings suggested it to be bilateral congenital megaureter with giant one on the left side which was causing gross abdominal distension. Excision of left megaureteric segment, psoas hitch and ureteroneocystostomy was performed. Excision, tapering and uretereroneocystostomy of right ureter was performed. Congenital giant megaureter should be considered as one of differential diagnosis in children presenting as abdominal mass.

Breast cancer in men is rare but carries a poor prognosis. The incidence is increasing but remains less than 1% of all cancer among American men and less than 0.1% mortality. Here, we report an 83-year-old Caucasian male Veteran with high-grade invasive ductal carcinoma of the left breast with solid papillary growth with underlying hematoma after sustaining trauma to the left anterior chest wall. There are no reported cases of this type of growth pattern in the literature.

Granulomatous peritonitis may occur as a consequence of a disseminated infection, as a reaction to foreign materials or rupture of an intraabdominal mass or hollow viscus, or as a very rare postoperative complication. Cases of non-infectious granulomatous peritonitis are usually related to tissue reaction to talc or cornstarch in surgical gloves. The imaging findings of this condition are usually suggestive of malignancy and can lead to misdiagnosis. We report a case of aseptic granulomatous peritonitis in a 44-year-old woman with a history of multiple abdominal surgeries, presenting with erythema nodosum. Abdominal masses were also found on imaging. The patient responded well to conservative management, and no relapse was reported in the follow-up. Erythema nodosum in this patient is considered to be a manifestation of granulomatous peritonitis that developed two months after laparotomy, and the authors weren’t able to find an earlier case report of such a clinical case. The goal of this paper is to introduce a possibly new presentation of granulomatous peritonitis. Also, the authors wanted to give a presentation of imaging appearance of this condition, otherwise rarely described in literature. This paper reminds us of importance of being aware of rare complications following abdominal surgery, as well as of conditions that can mimic intraabdominal malignancy. The proper management can be conservative and more invasive procedures can be avoided.

This article concerns the unusual association between two kinds of mistreatment: Shaken baby Syndrome/ Abusive Head Trauma (SBS/AHT) and intentional intoxication by a tricyclic antidepressant (TCA) (amitriptyline). A six-month-old girl was hospitalized in state of coma after several episodes of malaise. The ophthalmologic exams found bilateral retinal and retrohyaloid hemorrhage, the RMI detected non-compressive subdural hematomas localized in the posterior fossa and the brain convexities and the toxicological results were positive for amitriptyline (99.4 μg/L) and its metabolite nortriptyline (154 μg/L) in the blood. All differential diagnoses were eliminated such as glutaric aciduria II, copper metabolism anomaly, and Osteogenesis Imperfecta. The police investigation reports the grand-mother and the father had an amitriptyline prescription. The toxicological analysis of the hair of the baby girl and of the parents was very useful to prove the chronical exposure. A scientific review identified few cases reports of child amitriptyline intoxication and among us, none of them enabled to compare our findings. Our description of this fact is very complete, with decrease concentration table of amitriptyline in the infant blood, permitting the comparison with another future cases. All these data confirm a singular case of Shaken baby Syndrome/Abusive Head Trauma and intentional intoxication association. This entity is not describe in the literature and poses a lot of questions especially the obligation to perform systematic toxicological analyses in case of SBS/AHT.

Introduction Immunoglobulin D multiple myeloma (IgD MM) accounts for almost 2% of all myeloma cases and has usually an poor prognosis. Due to its rarity, the reports on this disorder in the literature are limited. Case Report We therefore present a case of Ig D multiple myeloma. The age of the patients was 56 years old and the common presenting symptoms were anorexia, weight loss and bone pain. The patient was also presented with neurological symptoms (peripherial neuropaty), renal impairment and kappa paraproteinemia. Conclusion The small group of patients who have IgD multiple myeloma is rare and considered to have a poor prognosis compared to other MM isotypes. The clinical features and prognosis of patients with IgD MM are not the same from those that characterize patients with other immunoglobulin MM subtypes. New treatment strategies that aim to induce high-quality responses before ASCT and after ASCT may be needed to improve the outcomes of such patients.

The relationship between osteoporosis and vertebral compression fractures in elder population is well known. Pain and immobility in these patients causes serious comorbid diseases. Vertebroplasty is been used to reduce pain and to return the patients to their normal life quality in osteoporotic compression fractured patients for many years. Although vertebroplasty was widely used at lower thoracic and lumbar regions earlier, with higher experience it became administrable at mid and upper thoracic vertebrae nowadays. Many cases and techniques are reported in the literature till now but, to the best of our knowledge there is no such case of vertebroplasty procedure at 103 years old.

Ovarian metastasis was described the first time by Friedrich Ernst Krukenberg in 1896. Even if the historical timeline dates back to sir James Paget who had described the process in 1854.

Introduction: Colon adenocarcinoma frequently metastasizes to the liver and lung. Distant metastasis to skeletal muscle and subcutaneous tissues arising from colorectal cancer are rarely reported in the literature. Treatment options include radiotherapy, chemotherapy and surgical excision, with no standard treatment. Case presentation: A 64 years old male presented with painful mass in the left elbow (8.5x5.5 cm). The incisional biopsy of the tumor showed poorly differentiated carcinoma, with no clear differentiation between epitheloid sarcoma or low differentiated carcinoma metastasis. PET CT showed pathological metabolic activity in the left elbow and in the right part of the abdomen. Colonoscopy was performed, showing an ulcerated obliterating adenocarcinoma of the sigmoid colon. Hemicolectomy followed. The histological comparison of the both tumors, showed the same characteristics. Molecular analysis showed biomarkers non mutated status. The radiotherapy of the elbow was applied, and he started with combination of doublet chemotherapy and EGFR inhibitor. After three cycles, complete remission was achieved, remaining present. Due to complete regression surgical resection was not necessary. Conclusion: We have reported an extremely rare case of isolated skeletal muscle metastasis as first presentation of metastatic colon adenocarcinoma. PET CT can be helpful to localize the primary site of the metastatic deposits. Immunostaining and pathohistological comparison of the primary carcinoma and the metastasis should be incorporated to reach the final diagnosis whenever possible. Since skeletal muscle metastases are considerably rare and the therapy is not standardized, treatments of these patients should be individualized and must depend on the clinical settings and biomarkers status.

FLT3 is a frequently mutated gene in acute myeloid leukemia that encodes a receptor tyrosine kinase. We report the case of a patient with FLT3-ITD positive secondary acute myeloid leukemia after treatment for breast cancer. Due to poor response to induction therapy and relapse before consolidation therapy we started a palliative treatment with the tyrosine kinase inhibitor sorafenib. After initial response clinical resistance occurred. Sequencing showed an additional FLT3-TKD mutation. Sunitinib effectively inhibited FLT3-ITD/TKD mutated cells in vitro and induced a reduction of blasts and prolonged survival in vivo. Individualized tyrosine kinase inhibitor therapy may prolong survival in selected patients with FLT3-ITD+ acute myeloid leukemia.

Difficulties in the diagnosis of stress fractures arise from the nonappearance of radiographic abnormalities in the early stage after the fracture has happened. We report the case of a previously asymptomatic 11-year-old child with no intense physical activity background who presented a stress fatigue fracture of the right sacral ala. Clinical examination disclosed an elective pain located near the right sacro-iliac joint. Neurological examination was normal. All biological tests; spine, pelvis and hips X-Rays were also normal. Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) confirmed a fatigue fracture appearance of the right sacral ala. The total healing of the patient was obtained after 4 months of orthopedic treatment. Sacral fatigue fractures remain a rare event, especially in the pediatric non athletic group. Only five cases have been reported so far in the literature. This can lead to multiplying supplementary examinations and delaying diagnosis.

Objective: Gamma knife surgery is an important therapeutic strategy for treatment of a non-functioning pituitary adenoma, as it suppresses tumor growth. However, in rare cases, the lesion may unexpectedly re-grow after gamma knife surgery. This report presents such rare cases of late recurrence of sellar lesions. Case Description: Two cases of non-functioning pituitary adenomas underwent gamma knife surgery. Tumor re-growth occurred following radiation therapy in case 1 at 6 years after gamma knife surgery, while expanding radiation necrosis from the irradiated tumor appeared in case 2 at 8 years after gamma knife surgery. The cases required additional radical removal of the expanding lesion with endoscopic trans-sphenoidal surgery, resulting in successful total removal. Conclusion: A patient with a non-functioning pituitary adenoma should be carefully followed for a long period, even after undergoing gamma knife surgery, to examine for lesion re-growth. In such a case, it is important that the removal operation should be considered immediately to release the compression.

Granular Cell Tumor (GCT) is a rare female genital tract tumor. Most of the tumors are benign, however malignant variants have been reported in cases of multicentric or metastatic diseases. We present a case of an infiltrative variety of benign granular cell tumor that was totally excised under general anesthesia. Wider local excision was made following recurrence of the tumor after nine months. There was no evidence of the disease during four years of follow up.

Background: Cholangiocarcinoma (CCA) is a malignant epithelial cancer of the biliary tract characterized by late diagnosis and poor outcomes. We report the case of a young healthy caucasian male patient who presented with non-specific symptoms, normal blood tests and atypical radiological findings of CCA. Case presentation: A 30-years-old Caucasian man, employed as welder in a yacht components factory, without known risk factor for CCA, was admitted because of acute upper abdominal pain, nausea and vomiting. Patient’s medical history was significant only for heroin abuse treated with methadone maintenance therapy. Imaging findings on Computed Tomography and Magnetic Resonance of the abdomen showed multiple intrahepatic lesions of undetermined nature. The biopsy of hepatic lesions finally revealed an intrahepatic cholangiocarcinoma. Conclusion: Although there is no case described in literature of CCA due to opioid consumption, hepatotoxic Heroin and Methadone exposition may have exerted a role on cholangiocytes proliferation, increasing proinflammatory and mutagenic stimuli and down-regulating local pro-apoptotic factors, leading ultimately to CCA development in this young patient.

Introduction: spondylodiscitis represents 3-5% of all cases of osteomyelitis. S. aureus is isolated in 50% of cases. Mortality ranges is 0-11%. Disability may occur. Diagnosis is often a challenge. Lumbar spine is preferentially affected with multifocal involvement in 4% cases. Septic shock mortality rate is high (22-76%). Purpose: to describe a case of septic shock due to pyogenic multifocal spondylodiscitis successfully-treated in Intensive Care Unit (ICU). Methods: 63-year-old woman presented in Emergency Department complaining 7 days back pain, weakness and diarrhea. Clinical setting suggested intra-abdominal infection. Rapid hemodynamic derangement required ICU transfer to treat septic shock and multiple organ failure. Cerebrospinal fluid (CSF) analysis showed normal count cells and hyperproteinorachia. Methicillin-sensitive S. aureus (MSSA) was isolated from blood cultures and in a very low charge from CSF. In addiction C. difficile toxin was found. Vertebral spine Magnetic Resonance Imaging showed spondylodiscitis in multiples vertebral bodies and intervertebral disks, paravertebral and Psoas muscles abscesses. Further anamnestic information allowed identification of recent wrist wasp sting (infected by the same MSSA). In ICU, patient underwent C. albicans fungemia and P. aeruginosa sepsis. She was treated with antibiotics and we performed advanced-cardiovascular-support, protective-mechanicalventilation and continuous-venovenous- hemofiltration. Results: after 79 days, patient was transferred to rehabilitation ward and then back home. Conclusions: despite previous delay in sepsis recognition and its underlying cause, early application of intensive support and close adherence to Survival Sepsis Campaign treatment guidelines were critical issues for the survival of this unusual spondylodiscitis case.

The volume 5 and 5th issue of Journal of Clinical Case Reports compiles 13 excellent manuscripts including 9 clinical case reports and a research article on various pathological conditions. An interesting research article by Vega-Hernandez et al, described the association between four polymorphisms on the Vitamin D Receptor (VDR) with respect to clinical manifestations of Psoriasis Vulgaris (PsV) in a Mexican patient population. Their results indicate polymorphisms of FokI, ApaI, BsmI and TaqI in the VDR gene are not associated with the risk of presenting PsV in the Mexican population. They found an association between FokI polymorphism of VDR gene and two major clinical variables, suggesting that the genotype [T/T]/ff may be a protective factor for nail involvement and age of onset in Mexican patients with PsV.