Year 2020, Volume 4 - Issue 4

Background: We describe a family with hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL), a rare genetic condition causing motor impairment. Case Presentation: Whole exome sequencing (DDD study) was performed on the proband who presented with motor symptoms. Sanger sequencing was done on the proband and two affected siblings to validate the result and confirm segregation of the variant with the phenotype. The phenotype and magnetic resonance imaging pattern of the siblings were compared. The index case and her two affected siblings were found to have the same compound heterozygous mutations in the DARS gene. The siblings had milder presentation than previously reported cases, continuing to walk unsupported and have not developed overt spasticity, but have mild upper motor neuron and cerebellar signs. Clinical severity and imaging findings were variable in this family. Conclusion: We demonstrated intra-familial variability and very mild symptoms in our family with DARS-associated HBSL, widening the phenotypic spectrum of the condition. It is likely that other factors, genetic and environmental, play a role in this variability.

Background: Hepatic bleeding tumors are rare. It is important to become familiar with CT images because they can create diagnostic issues. Delayed treatment could cause the death of the patient. Case Presentation: A 42-year-old Chinese man was referred to the Emergency Room because of a trauma. One week later, he was readmitted to the Emergency Department for abdominal pain and signs of hemorrhagic shock. At this occasion, a CT scan is performed. The examination revealed the presence of intraabdominal bleeding with a liver hematoma and a liver bleeding mass. The patient had then surgery and a large bleeding hepatocellular carcinoma was resected. Conclusion: We report an unusual case of a bleeding mass following a trauma. In case of mild trauma, the symptoms may be few and hemoperitoneum may not be present in the early phases. The patient may not have a CT scan or the CT scan can be difficult to interpret because of the presence of bleeding.

Background: Systemic lupus erythematosus (SLE) is a chronic inflammatory connective tissue disorder with multi-organ involvement. A rare complication of SLE is shrinking lung syndrome (SLS), characterized by progressive exertional dyspnoea, reduced lung volumes, and diaphragmatic elevation. Case Presentation: We report a case of SLS secondary to SLE, who required an extensive work up to exclude other more common causes of lung involvement in such a condition. This case report highlights the disease burden of SLS in a once active, independent young lady requiring nocturnal non-invasive ventilation (NIV) to relieve shortness of breath in a recumbent position. This patient had the triad of hypoxia at rest, type 2 respiratory failure, and diaphragmatic palsy. Several different immunomodulators were used initially with little success and it was not until she received six cycles of intravenous cyclophosphamide, that she no longer required NIV support, displayed improvements in pulmonary function tests and diaphragmatic motility and attained a normal lifestyle. Conclusion: The use of immunomodulators appeared to be particularly effective in restoring normal functional capacity in shrinking lung syndrome. However, the pathophysiology of this condition requires further studies.

Background: We, here, describe the case of Systemic Lupus Erythematosus (SLE) with pancytopenia, refractory to steroids immunosuppressive therapy, and plasmapharesis that ultimately responded to intravenous immunoglobulins (IVIG). To the best of our knowledge, very few cases of this type have been reported in literature. Case presentation: A 40-year-old female presented with complaints of hematemesis, hematochezia, gum bleed, epistaxis, menorrhagia, and fever. After careful examination and investigation she was diagnosed with SLE associated with pancytopenia refractory to conventional means of treatment. Pancytopenia responds normally to steroids and immunosuppressive agents in these patients however our patient responded only to IVIG. Conclusion: This case report highlights the fact that early use of Intravenous immunoglobulins in patients of SLE with severe and refractory pancytopenia can prevent morbidity and mortality..

Background: Rupture of the esophagus which is not iatrogenic or due to carcinoma, Mallory Weiss syndrome, or foreign body is called a spontaneous rupture of esophagus or Boerhaave syndrome. Symptoms are not specific and include back or retrosternal chest pain, crepitus on chest wall palpation, or mediastinal crackle. Esophagus rupture could have dyspnea, tachypnea, tachycardia, and dullness in the chest exam due to pleural effusion beside the pain. Case presentation: In this report, we had two cases with rupture of the esophagus due to soda (bicarbonate) use with no remarkable past medical history. Both patients had stable vitals when they came to the Emergency Department. Diagnosis was confirmed by chest CT scan. One of the patients did not take any invasive treatment and there was no need for operation. The other patient underwent thoracotomy and esophageal repair. Both of them had good general condition after some days. Conclusion: We recommend not englutting excessive amounts of soda why it can cause rupture of the esophagus in patients with unknown esophageal wall weakness or healthy esophagus.

Background: The sinonasal tract is anatomically complex and it houses a wide variety of inflammatory, benign, and malignant lesions. While inflammatory polyps are easily recognized by the pathologists, the nasal hamartoma still poorly understood. Seromucinous hamartoma have only been recognized over the past few years. They are a diagnostic challenge, needing to be distinguished from low-grade adenocarcinomas, and are of interest because most of the basic questions about their pathophysiology remain unanswered. Case presentation: We present a case of seromucinous hamartoma with features that partly expand the morphologic spectrum of these lesions, in a 50-year-old man. We also discuss the differential diagnosis and review the literature to compare our findings with previously reported cases with the aim of better understanding this interesting entity. Conclusion: Seromucinous hamartoma is a condition that may mimic several different sinonasal tumors, and further discussion and research are necessary to evaluate its full long-term impact.

Background: Hypoglycaemia is more frequent among diabetic patients as a result of hypoglycaemic lowering therapies, making the diagnosis and management straightforward. However, when documented in nondiabetic people, it becomes a diagnostic problem. Despite their seemingly benign behaviour, the aetiology and posterior treatment is of crucial importance, since recurrences are frequent and prolonged hypoglycaemia can cause serious brain lesions, making mortality higher among nondiabetic patients. Case Presentation: A 36-year-old man was admitted to our hospital due to an episode of altered mental status with documented hypoglycaemia. The patient had no medical conditions known and was only on zonidamide. He denied drinking alcoholic beverages and had no other symptoms. Physical examination, on the emergency department, as well as blood test was normal, and he was admitted to study the cause of hypoglycaemia. After the 72-hour fast test, endogenous hyperinsulinism was diagnosed and the team initiated the investigation of a possible insulinoma, which was later found to be in pancreatic location. The patient was referred for surgical resection of the insulinoma and was discharged home 7 days after the surgery. He recovered well without further symptoms of hypoglycaemia. Conclusion: The authors want to highlight the rarity of hypoglycaemia among non-diabetic patients emphasising endogenous hyperinsulinism as an unusual cause of it, infrequently as a result of an insulinoma. Despite its rarity, once the correct treatment is chosen the prognosis is good and the overall survival rate does not differ from that expected in the general.

Background: Machado–Joseph Disease (MJD) also known as Spinocerebellar Ataxia3 or Azorean ataxia is a progressive autosomal dominant neurological disorder which affects cerebellum and its function that leads to ataxia and incoordination of gait. Case Presentation: A 20-year old male presented with chief complaints of abnormal posturing of both lower and upper limbs, slurred speech, and a nasal regurgitation. Neurological examination revealed gaze evoked nystagmus, spasticity in both lower limbs which are indicative signs of cerebellar dysfunction. Genomic DNA analysis was performed, and patient condition was diagnosed as MJD with Parkinsonism. Conclusion: Patient was treated symptomatically with medications and physiotherapy to relive symptoms of Parkinsonism. After a week of follow-up, his symptoms were subsided and got discharged.

Background: Patients with connective tissue disease are a potentially challenging population to treat via an endovascular approach. Treatments carry a risk of new or further dissection, including at the arteriotomy, and challenges navigating true or false lumen. Case presentation: The authors present a case of a patient with a recent aortic dissection in the setting of presumed connective tissue disease, with coincidental symptomatic uterine fibroids, successfully treated via uterine artery embolization. Conclusion: To the author’s knowledge, this case report is the first to describe successful uterine artery embolization in a patient with existing type b dissection. With proper technique and preparation, uterine artery embolization and other endovascular treatments remain a viable treatment option in this patient population.

Background: Hydatid disease is a zoonotic infection caused by a parasitic infestation by a tapeworm, Echinococcus, most commonly involving the liver and lungs. Subcutaneous site involvement is rare and has been reported in 1.6% of cases till date. Case presentation: We present a 45-year-old male with a swelling in the right axillary region for years with a recent increase in size and association with fever and pain. The patient was diagnosed as hydatid cyst intraoperatively treated with complete surgical excision and standard medical therapy with an anthelmintic drug, albendazole. Conclusion: Hydatid cyst should be considered as a differential diagnosis in subcutaneous cysts to avoid rupture, subsequent anaphylactic reactions, and recurrence.