Journal of Clinical Case Reports

Myotonic Dystrophy Type 1 (DM1) is the most common muscular dystrophy worldwide, with a prevalence of ranged from 1 in 8,300. The disease is an autosomal dominant neuromuscular disorder and characterized by muscle weakness, dystrophic changes in neuromuscular tissues, frontal baldness, cataracts, cardiac disorder and insulin resistance.

Internal Carotid Artery (ICA)-ophthalmic artery aneurysms are relatively rare aneurysms, constitute 0.3% to 1% of intracranial aneurysms and 0.9% to 6.5% of aneurysms of the ICA. Including them, large and giant aneurysms developing around the optic nerve sometimes press it and make it thin, but rarely penetrate it. There have been very few reports that they could predict the ICA-ophthalmic artery aneurysm penetrated the optic nerve with preoperative Magnetic Resonance Imaging (MRI), and it is very useful. We present a case that we could predict penetration of the optic nerve by an ICA-ophthalmic artery aneurysm before the operation, and could confirm it in the operation.

Introduction: Primitive Neuroendocrine bladder tumors are very rare and with a poor prognosis. Case report: We report the case of a white 57 year-old man diagnosed with a 6-centimetre primitive neuroendocrine urinary bladder carcinoma associated with a right-retroperitoneal metastasis. He underwent surgery: radical cystoprostatectomy and large lymph node dissection. The histopathology showed small neuroendocrine cells in the bladder and a prostate carcinoma (a low-risk cancer). At seven months post presentation, metastasis appeared at the bottom of the left kidney and in the retroperitoneum, the previous metastasis’ place. The patient was treated with a Cisplatin and Etoposide chemotherapy regimen, every three weeks, for six cycles. He is watched for twenty-eight months. Conclusion: Therefore, their management has to be collaborative.

Septo-Optic Dysplasia (SOD) is a heterogeneous condition defined by any combination of i) optic nerve hypoplasia, ii) hypopituitarism, and iii) midline brain anomalies such as agenesis of the corpus callosum and absence of the septum pellucidum. We encountered a Japanese girl with optic nerve hypoplasia, growth failure, precocious puberty, and mild developmental delay. Her optic nerve hypoplasia was diagnosed at 4 months of age. Thereafter, she showed growth failure from infancy. Gradual breast development was noticed from 6 years of age. Therefore, she was referred to us at 9.2 years of age. Endocrinological investigations demonstrated deficiencies in growth hormone, adrenocorticotropic hormone, and cortisol. However, serum levels of luteinizing hormone, follicle stimulating hormone, and estradiol were increased to pubertal levels. Brain MRI revealed bilateral optic nerve hypoplasia, a normal anterior pituitary lobe, an invisible pituitary stalk, and an invisible posterior lobe. Based on these findings, she was diagnosed as having SOD with growth hormone deficiency, secondary adrenal insufficiency, and central precocious puberty. Replacement of hydrocortisone, recombinant growth hormone replacement, and suppression therapy by gonadotropin releasing hormone analog were initiated. Her growth rate and physical activity were improved after treatment. While SOD is rare, children with optic nerve hypoplasia should be carefully checked for symptoms of pituitary hormone deficiency. Timely diagnosis of endocrine deficits could reduce the morbidity of patients with SOD.

We report a case of a 75 year-old man who was diagnosed with a L3-L4 spondylitis with psoas abscess documented at Prevotella denticola. However, the dental origin of the bacteria, the presence of the spondylitis, and the identification on an aneurysm of the inter-atrial septum with a patent oval foramen and finally the metabolic activity of the aortic valve and teeth revealed by 18F- FDG PET/ CT makes the diagnostic of endocarditis questionable. The input of the 18F- FDG PET/ CT on the diagnosis of native valve infectious endocarditis would be valuable in these clinical situations but needed more studies.

Organ transplantation in Japan, especially from deceased donors, has lagged behind that in other countries for many reasons. Even though the Japanese government approved the revised Organ Transplant Act in 2010, the number of donors remains small and the rate of donation from deceased persons was ranked 61st out of 62 countries registered in the International Registry in Organ Donation and Transplantation December 2014 (http:// www.irodat.org/). On the other hand, Spain has become known as the world-leading country of organ transplantation and set a new world record with 4,360 transplants from 1,682 donors in 2014. The so-called Spanish Model has had a great impact on the development in transplantation in Spain. Here we mention the difference between Spain and our country, Japan, and also how we Japanese can increase donations and improve the situation in our country.

Spondylodiscitis, a combination of spondylitis and discitis, is an infection of the spine that involves the intervertebral disc and the vertebral body. Patients presented with little specific symptoms and suspicion for diagnosis is required. This report aimed to describe a female child patient with spondylodiscitis and to describe the diagnostic and therapeutic tools of such patient. This report recorded 2 year-old female child presented by fever, pain associated with standing and sitting, and 10 days history of refusal to walk in Prince Sultan Medical City, Riyadh, Saudi Arabia. Laboratory investigations as well as hip and knee ultrasound showed no abnormalities. However, and hip and lower back Magnetic Resonance Image (MRI) showed evidence of abnormal hyper intensity with enhancement of the bone marrow involving the vertebral bodies and adjacent endplates of 5th lumber (L5) and 1st sacral (S1) vertebrae with involvement of intervertebral disc space and paravertebral soft tissue component. Spondylodiscitis was suggested in the child, and conservative management by medical team of pediatrics and orthopedics consultant has immediately started. The treatment included antibiotics, non-steroidal analgesia and physical rehabilitation. The patient was completely evolved from condition within days. MRI taken 6 weeks later showed significant interval improvement of signs of spondylodiscitis, and the girl has been seen in the clinic after 4 months from discharge in good condition. Spondylodiscitis has to be considered in young children with acute ambulation changes. Prompt diagnosis and treatment involving the entire multidisciplinary team is emphasized in order to improve the prognosis of such patients.

A case refers to a patient with a diagnosis of alpha 1 antitrypsin deficiency and chronic obstructive pulmonary disease. Performed Transthoracic Lung Ultrasound (TLU) examination revealed the presence of artifacts Am lines that are the result of bullae, confirmed by computed tomography of the chest. This is the first case in which first revealed the presence of the Am.

Detection of aortic arch anomalies prenatally is rare. Right aortic arch is a subgroup of aortic arch anomalies. In this paper, we report an isolated right aortic arch case that is detected in the 22nd week of pregnancy. Prenatal diagnosis is crucial for prenatal genetic counselling and approach in neonatal life.

Bacterial myocarditis is an uncommon form of infectious myocarditis. The definitive diagnosis requires histopathology with evidence of bacterial invasion. We report a case of group B streptococcal myocarditis secondary to septicaemia with complete atrioventricular (AV) block and new left bundle branch block. The histopathology revealed patchy small foci of myocyte necrosis. The necrotic areas contained mixed inflammatory cell infiltration with a predominance of neutrophils. Necrosis in AV node was also observed. Gram stain in the necrotic area showed clusters of gram positive cocci in agreement with the results of haemoculture. Bacterial myocarditis is a devastating complication of bacteraemia. This case highlights the ability of group B streptococci to cause life-threatening infections in adults without clear predisposing factors to serious infection. Bacterial myocarditis may progress quickly and be associated with a fatal outcome.

Surgical complications are uncommon for tapeworm especially in non-endemic areas. We report one case of a 49 years old lady presented with small bowel obstruction caused by Taenia saginata. This is an unusual and unexpected cause even in tropical countries where helminthes infestation is common. Although rare, this possibility should be kept in mind as a very rare possible cause of bowel obstruction. To the best of our knowledge, this is the first report from North Africa documenting this rare cause.

Pyomyoma is a fatal complication of leiomyoma with a high morbidity and mortality. Diagnosis is usually difficult because of its insidious presentation, lack of clinical localizing findings and reported imaging. This report documents a case of ruptured pyomyoma following an abortal process causing peritonitis. Intravenous antibiotics were administered and the infected myoma was removed surgically without recourse to hysterectomy. There should be a high index of suspicion of pyomyoma particularly in septic patients with leiomyoma and those with a risk of uterine infection.

A placental site trophoblastic tumor requires care in management and a prompt diagnosis. Placental site trophoblastic tumor is a rare type of gestational trophoblastic disease and displays non-specific presentations similar to those of uterine arteriovenous malformation and those of non-neoplastic gestational trophoblastic diseases such as placental polypoid tumor. Diagnosis from biopsy is extremely rare, and a delay in diagnosis can result in a poor prognosis for patients with placental site trophoblastic tumor. Although patients with placental site trophoblastic tumor, uterine arteriovenous malformation, and placental polypoid tumor are all commonly in their reproductive years, most patients with uterine arteriovenous malformation and placental polypoid tumor can have their fertility preserved with transcatheter arterial embolism treatment. However, hysterectomy is the primary choice of treatment, which should be promptly performed when placental site trophoblastic tumor is suspected. We report a patient presenting with a hypervascular uterine tumor with added complications of uterine arteriovenous malformation. Transcatheter arterial embolism was performed in attempt to manage arteriovenous malformation and to preserve fertility, but the treatment was incomplete and only temporary. This raised the suspicion of placental site trophoblastic tumor, which was confirmed by hysterectomy. Incomplete and temporary success with transcatheter arterial embolism may suggest placental site trophoblastic tumor.

Linear Iga Bullous Disease (LABD) is an autoimmune blistering disease that can occur spontaneously or secondary to medications. Recently LABD has been reported in association with ulcerative colitis in which treatment with infliximab resolved both diseases. We describe a patient with ulcerative colitis who developed LABD disease after exposure to infliximab therapy for ulcerative colitis.

Pseudomonas mendocina is a Gram-negative, non-fermenting rod bacterium. It is generally isolated from soil and water samples. So far, it has been isolated from several human clinical samples. We report the seventh case of infection in human caused by this uncommon organism.

Cesarean Scar Defect (CSD) is the formation of a diverticulum at the site of the old caesarean incision [1]. With a rising cesarean sections being performed, the complications caused by CSDs has attracted more and more attentions. These include conditions such as scar pregnancy, placenta accreta, placenta previa, and uterine rupture in subsequent pregnancies [2,3].

Lacrimal sac mucocele, either unilateral or bilateral, occurs when the nasolacrimal duct is obstructed and is a rare anomaly in the newborn period. We presented 1 day old full-term female baby with respiratory distress. She was referred by her primary care provider for an otolaryngologic assesment with the suspicion of choanal atresia. In her nasal endoscopy, a mass with a mucosal lining was filling the right nasal cavity. Ultrasonography showed a submucosal tumorous lesion in the right nasal cavity and MRI demonstrated a unilateal lacrimal sac mucocele. In this case report, it is stressed that lacrimal sac mucocele may manifest only with intranasal mass in the newborn period; which can be misdiagnosed as a tumor. MRI is a valuable tool in its capacity to delineate many details in mucocele and may prevent unnecessary biopsies and other surgical procedures.

Neurocysticercosis is one of the common space occupying lesion of brain in Asian countries. Cysticercosis of brain can present in variable forms with or without classic scolex in cyst. As they are so common and treatable cause of new onset seizure, identification of such pathology is crucial in imaging. We are presenting a cystic lesion of brain of middle aged patient with spontaneous onset of seizure and headache. On CT scan there was large cystic lesion of white matter of right cerebral hemishere with no perilesional edema and contrast uptake. On further imaging with MRI, there were other small lesions in left cerebrum apart from large lesion detected on CT. None of the lesions showed scolex and contrast uptake. Excisional biopsy showed the lesion to be taeniasis of brain. The albendazole and steroid therapy cured the symptom of the patient. It is one of the rare pattern of common disease.

35 year old Indian male presented with 3 months history of productive cough, low grade fever, weight loss, night sweats and joint pain. On examination patient was febrile and emaciated. He had swelling and tenderness in bilateral midfoot region and right knee. Chest examination revealed crackles in bilateral lung apex and left lung base. His investigation showed elevated acute phase reactants, sputum sample for Acid Fast Bacilli (AFB) was positive.

Langerhans cell histiocytosis and xanthogranuloma are both conditions characterized by increased histiocytic proliferation and are both more commonly seen in children. Nevertheless, the two are completely separate entities and have distinct differences in clinical presentation, histopathological appearance, prognosis, and therapy. Although adult forms of either disorder are rare, concurrent presentation of both is even more unusual. We report a 61-year-old man who presented with disseminated yellow-red papules coalescing into nodules, on a background of erythema and alopecia. Histopathology exhibited a dense dermal infiltrate of foamy histiocytes and lymphocytes in addition to follicular mucinosis with atypical folliculotropic cells. Appropriate staining revealed that the foamy histiocytes throughout the dermis represented a xanthogranulomatous process, while the folliculotropic proliferation represented Langerhans cell histiocytosis. Further work-up of this multiple adult xanthogranulomas with follicular mucinosis-associated Langerhans cell histiocytosis exposed underlying chronic myelogenous leukemia per bone marrow biopsy, which was likely either solely or partially an initiating factor in the eruption of multiple histiocytic process in this patient.