Cases journal最新文献

Introduction: Holoprosencephaly (HPE) is a rare presentation in newborns. It refers to an incomplete or absent division of the prosencephalon or forebrain into distinct cerebral hemispheres.

Case presentation: A preterm baby girl, first of dizygotic twins, born at 26 weeks of gestation to a 45 year old mother, was prenatally diagnosed with ventriculomegaly on fetal ultrasonogram. At birth the baby had frontal bossing with sun setting eyes and a full anterior fontanel. Initial head ultra-sonography (HUS) showed ventriculomegaly and semilobar holoprosencephaly, which was confirmed by computed tomography scan. Subsequently, the baby developed hydrocephalus that progressively increased. Eventually, the cerebrospinal fluid required drainage and a ventriculo-peritoneal shunt was placed.

Conclusion: Holoprosencephaly has heterogeneous etiologies, including teratogenic and or a genetic basis. It is prudent to diagnose holoprosencephaly prenatally and determine the type to classify severity, complications and survival rate. It is also important to recognize that even with monozygotic twins only one twin may have HPE. The parents of a baby diagnosed with holoprosencephaly should be counseled about the poor prognosis.

Venous thromboembolism is a very common pathological process for which there are many well known (and less well-known) predisposing factors. Likewise, olanzapine is a commonly used anti-psychotic medication.We present the case of a young Somali gentleman who developed venous thromboembolic disease after an overdose of olanzapine. The diagnosis was only made 48 hours after admission, due to the non-specific presentation of the pulmonary embolus and the fact that the link between olanzapine and pulmonary embolus was not previously widely described and therefore it did not immediately figure in the differential diagnosis. The patient made a full recovery.There is an increasing body of circumstantial evidence linking olanzapine to pulmonary embolus. Clinicians should bear this possible association in mind when prescribing the drug and when faced with clinical situations where venous thromboembolism (VTE) is a possible diagnosis. VTE has occasionally been described in therapeutic dose olanzapine therapy, but never in the context of an acute overdose. Khat, a recreational drug, has been linked to arterial, but not venous thrombosis.It is hoped that this case report will further encourage research into these associations, which remain to be proven and quantified.In the context of changing population demographics and increasing global migration, a greater awareness of the potential effects of endemic practices and their potential consequences is essential to the modern-day doctor working in a multi-cultural society.

Up to now, there have been only a few reported cases of Mucosa-associated lymphoid tissue (MALT) lymphomas arising in the rectum. Its clinical presentation is indistinguishable from that of rectal carcinoma but the treatment is apparently different. Symptoms of primary lymphomas involving the rectum include; anorexia, weight loss, change in bowel habits, obstruction, and bleeding. These symptoms are not disease specific and can be seen in many other gastrointestinal disorders. Patients with polypoid masses may present with obstruction symptoms. In this rare case, a female patient admitted to the emergency service with prolapsus of a rectal mass.The optimal treatment of rectal MALT lymphoma is not well defined yet, given the rarity of the disease. Surgical resection of the localized lesion and following adjuvant chemotherapy has proved to be an effective treatment option. However, a close and long-lasting follow-up is important.

Introduction: A hepatic subcapsular hematoma in a neonate shows a non-specific presentation such as the presence of an abdominal mass without symptoms of hemorrhage and is clinically less distinguished as compared to cases detected during an autopsy.

Case presentation: A neonate was delivered by vaginal delivery after 29 weeks and three days gestation with breech presentation. In a laboratory study, there were slightly increased levels of liver enzymes but the platelet count and hemoglobin level were normal. An abdomen ultrasonography and CT image demonstrated the cystic mass containing an internal thin septum with compression of the lateral margin of the right hepatic lobe and Morison's pouch. A CT image showed an irregular low-density lesion in the dome of liver that was suspected parenchymal laceration.

Conclusion: We have described the sonographic and CT findings of an incidentally detected subcapsular hematoma of the liver in a neonate who showed a breech presentation, very low birth weight and was premature.

Background: There are very few reports of Aspergillus fumigatus causing endogenous endophthalmitis (EAE) in immunocompetent individuals although it is well recognised in the immunocompromised. Treatment can be with intravitreal, intravenous and oral antifungal agents. The benefit of an oral agent is clear however the concentration of voriconazole in the inflamed eye after oral administration has not previously been documented.

Case presentation: We present a case of EAE in an immunocompetent 78-year-old Caucasian female who was subsequently managed with oral voriconazole. Using a bioassay, we show an appropriate voriconazole concentration in serum and vitreous samples.

Conclusion: This case adds to the limited literature on the prevalence of endogenous endophthalmitis in immunocompetent patients and supports the use of voriconazole in such cases.

Introduction: Seizures with or without trauma may cause fractures that occur commonly in epileptic seizures. Fracture risk is less reported in non-epileptic seizures. Some metabolic conditions leading to a decrease in bone mineral density may cause fractures secondary to non-epileptic seizure.

Case presentation: We describe two cases of non-traumatic acetabular and vertebrae fractures following seizures without history of epilepsy. They occurred in two male patients, 18 and 48 years old suffering respectively from hypercorticism and poorly controlled diabetes mellitus. Seizures, occurring inside hospital, were secondary to hypertensive encephalopathy crisis with hypokaliemia in the first case and severe hypoglycaemia in the second one. Fracture was promoted by a decrease in mineral bone density caused respectively by hypercorticism and diabetic chronic renal failure.

Conclusion: These observations emphasize that fracture prevention among patients with decreased mineral bone density should include the avoidance of metabolic causes of seizure.

Blue rubber bleb naevus syndrome is a rare vascular disorder associated with multiple gastrointestinal haemangiomas that have the potential for life-threatening haemorrhage. These may be difficult to diagnose, and have classically been described using computed tomographic studies and/or mesenteric angiography. Resected surgical specimens of these lesions, especially in the small bowel, have often been extensive and poorly localized. The recent advent and progressive development of double balloon enteroscopy has allowed the direct visualization and marking of these enteric lesions and serves as a valuable adjunct not only in diagnosis but also planning prior to surgery to allow accurate estimate of the extent of resection.

Introduction: Liver and lungs are common locations of distant metastases of colorectal cancer. Skin metastases of colorectal cancer are very rare, and facial lesions are extremely uncommon.

Case presentation: An anterior resection of the rectum was performed for rectal cancer T3N0M0G3. A small ulcer on the upper lip developed 3.5 years after primary operation. Metastasis of adenocarcinoma was confirmed histologically, and local excision was performed. At the same time, a solitary metastasis in the right lung was diagnosed, and the right lower lobectomy was performed. No other metastasis or local recurrences were observed during the next 7 months.

Conclusion: Skin metastases in the face from colorectal cancer are very rare and may indicate tumour relapse several years after primary resection. These patients have a worse prognosis.

Prostate adenocarcinoma is the most common malignancy and the second leading cause of cancer related deaths in men. Testicular liposarcomas are uncommon soft tissue neoplasms. We report coexistence of prostate cancer and testicular liposarcoma in a 69 year-old-man because while orchiectomy endications are decreasing day by day, these second malignancies should not be missed.

Background: Musculoskeletal presentations of Crohn's disease are rare and they include psoas abscess, thigh abscesses and in extreme cases septic arthropathy.

Case presentation: Herein, we present a 53 year old gentleman with bilateral thigh fistulae discovered to be a new diagnoses of extra-intestinal Crohn's disease

Conclusion: It is important to consider Crohn's disease in patients that present with unusual or persistent fistulae and to consider this essential when there are atypical organisms present.