Australasian Medical Journal
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Dystrophia Myotonica with Mega Cisterna Magna
Myotonic dystrophy is also known as dystrophia myotonica (DM). The condition is composed of at least two clinical disorders with overlapping phenotypes and distinct molecular genetic defects: myotonic dystrophy type 1, the classic disease originally described by Steinert, and myotonic dystrophy type 2, also called proximal myotonic myopathy (PROMM). Mega cisterna magna is thought to be an anatomic variant with no clinical significance. We report a rare case of type 1 dystrophia myotonica in combination with mega cisterna magna
Laryngeal Tuberculosis
We report a case of laryngeal tuberculosis in a 47-year-old Korean man. Laryngeal tuberculosis is rare and currently accounts for less than 1% of all cases of tuberculosis. Clinical features of laryngeal tuberculosis include hoarseness, odynophagia and dyspnoea. Macroscopically, laryngeal tuberculosis may mimic laryngeal carcinoma, chronic laryngitis or laryngeal candidiasis. The diagnosis is often delayed due to a low index of clinical suspicion and hence may pose a significant public health risk. Laryngeal tuberculosis should be considered in the differential diagnosis of patients who present with any form of laryngeal lesion
Schmidt’s syndrome – case report
When immune dysfunction affects two or more endocrine glands and other non-endocrine immune disorders are present, the polyglandular autoimmune (PGA) syndromes should be considered. The PGA syndromes are classified as two main types: PGA type I and PGA type II. We are reporting this case in which a patient had primary adrenal insufficiency, autoimmune hypothyroidism and insulin dependent diabetes mellitus and was diagnosed as ";;;Schmidt's syndrome";;; (PGA type II). This syndrome is a very rare autoimmune disorder and difficult to diagnose because the symptoms of this syndrome depends on the gland which gets involved first. Our patient was treated and improved with corticosteroid, thyroxine and insulin therapy
Paediatric Intraventricular Meningiomas
Meningiomas are rare in children comprising less than 3% of paediatric brain tumours and only 1.5-1.8% of all intracranial neoplasms. Intraventricular meningiomas (IVM) account for 0.5-5% of all meningiomas. They arise in the ventricles from arachnoid cap cells contained within the choroid plexus, the tela choroidea, or the velum interpositum. Paediatric tumours also show an association with neurofibromatosis type 2 and previous radiation exposure. We present two cases of intraventricular meningiomas, both in children. The age and site of the lesion in the two cases are uncommon. Excision of the lesions caused a total subsidence of the symptoms with no reported recurrences
Pleural Effusion- An Unusual Cause
Hepatitis A (HAV) infection is one of the most common forms of hepatitis in the paediatric age group in developing countries. It is usually self-limiting and rarely accompanied by extra hepatic complication. In this article, we report two children with hepatitis A who had associated issues of pleural effusion and ascites. Both issues improved with resolution of hepatitis after symptomatic treatment. Although uncommon, extra hepatic manifestations can occur with hepatitis A. However, they resolve completely. Paediatricians in developing countries should be aware of this rare association to avoid unnecessary investigations
Bilateral Upper Lobe Pneumonia with Acute Adrenal Insufficiency
Achromobacter xylosoxidans is an uncommon pathogen of low virulence known to cause serious nosocomial infection in the immunocompromised. Its inherent multi-drug resistance makes treatment difficult. Community-acquired infections are rare despite its ubiquitous existence. We present a 50-year-old immunocompetent woman who presented with one-month history of coughing with expectoration who was subsequently diagnosed with bilateral upper lobe pneumonia and acute adrenal insufficiency. Achromobacter xylosoxidans was isolated from sputum and bronchoalveolar lavage culture. The acute adrenal insufficiency recovered after appropriate antibiotic therapy. Amongst the myriad of presentations, we highlight the rarity of acute adrenal insufficiency triggered by the infection
Cranial Melioidosis with Extradural Extension
A 32-year-old diabetic male, with a past history of head injury and seizures, presented with a painful swelling over his forehead present for the past three months. Cranial MRI demonstrated the presence of a scalp collection with extradural extension through a bony defect. Biopsy from the area showed caseating necrosis suggestive of tuberculosis. Although the patient failed to return for initiation of anti-tubercular therapy for the next 11 months, the swelling did not progress, and there were no constitutional symptoms. The indolent nature of the swelling prompted re-evaluation and delayed cultures of pus from the collection grew Burkholderia pseudomallei
Gyrate Atrophy of choroid and retina with Myopia, Cataract and systemic proximal myopathy
Gyrate atrophy is a rare metabolic disease with autosomal recessive inheritance pattern characterised by hyperornithinemia and typical ocular findings. This report presents a 17-year-old intellectually challenged girl consulting for a progressive fall of visual acuity with night blindness. Fundus examination showed patches of chorioretinal atrophy with typical scalloped borders and peri vascular pigmentation in the equatorial region. Fundus fluroscein angiography revealed characteristic staining pattern. Other ocular associations included myopia and posterior sub capsular cataract. Progressive systemic proximal myopathy was one of the associated features. Dietary supplementation of vitamin B6 was advised
Audio files enhance class room learning among medical students in Oman
Oman Medical College a private Medical College in Sultanate of Oman offers a 7 year MD program with the medium of instruction being English. Students are mostly Omani nationals who are Arabic speaking. To enhance understanding and learning course materials offered in the lectures, we decided to record the lecture sessions in MP3 format and provide access to the audio files to the students of Pharmacology in year 5.
At the end of 8 months of study the students completed a survey to assess the effectiveness of listening to the audio files of lectures. 80/103 students (77%) responded to the survey. 49 students out of the 80 (62%) agreed that they used the audio recordings. 80/103 students (77%) responded to the survey. 49 students out of the 80 (62%) agreed that they used the audio recordings. Most of the students listened to them from their laptops. 84% of the students agreed that listening to audio recordings helped them to understand and learn the lecture material in detail. 94% of the students recommended use of this tool in other courses also. 38% of students who attended lectures did not use this tool due to lack of time. To fully understand the potential value of audio recordings as a supplementary learning tool a more in-depth, detailed understanding of students' experiences of using audio recordings is required