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1.  Vitamin B12 deficiency presenting as pancytopenia and retinopathy in a young boy—Helicobacter pylori, a novel causative agent 
The Australasian Medical Journal  2014;7(3):143-148.
Deficiency of vitamin B12 (cobalamin) is a well-known cause of megaloblastic anaemia. It is a reversible cause of bone marrow failure and demyelinating nervous system disorder, hence early detection and prompt treatment of vitamin B12 deficiency is essential. After diagnosing vitamin B12 deficiency, tracking down its root cause is important in individualising the treatment approach. Helicobacter pylorirelated (H. pylori) B12 deficiency presenting as pancytopenia in pediatric age groups has been reported. However, vitamin B12 deficiency presenting as retinopathy in paediatric age groups has been rarely reported in the medical literature. We herein present the case of an adolescent male with pancytopenia and retinopathy, secondary to vitamin B12 deficiency-associated H. pylori infection.
doi:10.4066/AMJ.2014.1872
PMCID: PMC3973926  PMID: 24719649
Pancytopenia; retinopathy; Helicobacter pylori; vitamin B12 deficiency
2.  Bilateral schizencephaly Type II 
The Australasian Medical Journal  2014;7(3):157-160.
Background
Schizencephaly is one of the most severe forms of neuronal migration defects and is an extremely rare cause of seizure disorder.
Case details
We report a case of bilateral schizencephaly (Type II) presenting as seizure disorder since birth.
Discussion
This case is rare because of the relatively benign features compared to other reported cases.
Conclusion
Compared to other cases, this patient has normal cognitive and motor functioning. Given the scant literature on schizencephaly in India’s paediatric population, this case highlights the possibility of a very rare entity associated with seizures. MRI can detect this condition.
doi:10.4066/AMJ.2014.1924
PMCID: PMC3973928  PMID: 24719651
Bilateral schizencephaly type II; seizure disorder
3.  Transient adrenal insufficiency and post-treatment bradycardia in scrub typhus – a case report 
The Australasian Medical Journal  2014;7(3):164-167.
Scrub typhus appears throughout the Asia-Pacific rim. This disease is known for its diverse clinical manifestations and complications. There is no literature on the association of scrub typhus with adrenal insufficiency. Relative bradycardia has been reported in scrub typhus during the febrile phase but not during convalescence. We report the case of a 45- year-old woman with scrub typhus whose blood pressure was persistently low due to acute adrenal insufficiency. Adrenal failure responded to supplementation with steroids. She also developed sinus bradycardia during the afebrile period following treatment.
doi:10.4066/AMJ.2014.1951
PMCID: PMC3973930  PMID: 24719653
Adrenal failure; scrub typhus; relative bradycardia; ACTH stimulation test
4.  Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child 
Shprintzen-Goldberg syndrome (S-G) is a rare connective tissue disorder characterised by craniosynostosis, craniofacial dysmorphism, skeletal, cardiovascular, neurological, and other abnormalities. We herein present a case of a five-year-old Indian child who presented to our clinic with reducible umbilical hernia since birth, mental retardation, and delayed developmental milestones. After meticulous clinical examination with subsequent integration of clinical findings and investigations, we diagnosed her to possibly have Shprintzen-Goldberg syndrome. An attempt to compare the findings of our index case with the classical features as described by Greally et al. has been made. Given the rarity of this syndrome and the paucity of medical literature measuring the magnitude of this condition in the Indian population, this case serves to promote awareness of this rare entity.
doi:10.4066/AMJ.2014.1888
PMCID: PMC3941576  PMID: 24611072
Shprintzen-Goldberg syndrome; umbilical hernia; craniosynostosis; marfanoid habitus; Indian
5.  Rosai-Dorfman disease: A rare clinico-pathological presentation 
Rosai-Dorfman disease (RDD) is also known as Sinus Histiocytosis with Massive Lymphadenopathy (SHML). It is a rare, benign, self-limiting disease of phagocytic histiocytes affecting a young age group presenting with massive painless cervical lymphadenopathy. RDD has nodal and also extra-nodal involvement with episodes of exacerbation and remissions, whose aetiology remains poorly elucidated. It is highly variable in its clinical presentation and response to treatment. Its treatment is poorly defined but the prognosis is usually favourable. Here we are reporting a rare, unusual clinical presentation of cervical lymphadenopathy and nasal mass diagnosed as RDD with cyto-histopathological correlation. Only a few such cases have been reported in the literature. We also emphasise that clinicians and pathologists should always be aware of RDD in making a differential diagnosis of cervical lymphadenopathy.
doi:10.4066/AMJ.2014.1931
PMCID: PMC3941579  PMID: 24611075
Rosai-Dorfman Disease; cervical lymphadenopathy; histiocytes; emperipolesis
6.  An uncommon cause of ascites: spontaneous rupture of biliary cystadenoma 
Biliary cystadenomas are cystic hepatic tumours of biliary origin. Cystadenomas are often slow-growing benign tumours, but always harbour the risk of malignant transformation. Cystadenomas are often asymptomatic, but may present with abdominal pain and distension. Though suspected with cross-sectional abdominal imaging, definitive diagnosis almost always requires histology. Spontaneous rupture of cystadenoma had been reported three times in the medical literature to date, all presenting with peritonitis. Here we report a case of spontaneous intraperitoneal rupture of biliary cystadenoma presenting as ascites without peritonitis.
doi:10.4066/AMJ.2014.1875
PMCID: PMC3920472  PMID: 24567760
Nonparasitic hepatic cyst; abdominal pain; cystic neoplasm; leaking cyst
7.  Spontaneous coronary artery dissection causing myocardial infarction in an 18-year-old man: A case report 
The Australasian Medical Journal  2013;6(12):694-696.
Spontaneous coronary artery dissection (SCAD), an uncommon cause of myocardial infarction, typically affects a younger, otherwise healthy population. There are currently no known direct causes of this condition, although some correlations have been noted. Commonly found in women, the asymptomatic presentation in men is very rare. Herein, we report the case of an 18-year-old man who presented to our institution with asymptomatic myocardial infarction secondary to a spontaneous dissection of the left anterior descending coronary artery. Until now, there is no specific guideline for SCAD. Choice of treatment should be tailored to the clinical condition of each individual patient.
doi:10.4066/AMJ.2013.1897
PMCID: PMC3877851  PMID: 24391680
spontaneous coronary artery dissection; myocardial infarction; young age; asymptomatic
8.  Orbital myiasis caused by green bottle fly 
The Australasian Medical Journal  2013;6(10):504-506.
An 80-year-old farmer, presented with large, maggot infested ulceration involving the medial part of the right upper lid. The left eye was phthisical. There was history of untreated traumatic laceration of the right upper lid. Mechanical removal of maggots was done under turpentine coverage with regular antibiotic dressing. Microbiological examination of maggots revealed the larvae to be of Lucilia sericata (green bottle fly). The ulceration completely healed in two weeks following manual removal of maggots and regular dressing. Orbital myiasis is an uncommon clinical condition, with isolated case reports in literature.
doi:10.4066/AMJ.2013.1848
PMCID: PMC3821047  PMID: 24223066
Green bottle fly; Lucilia sericata; maggots; orbital myiasis
9.  Tongue cleaner, an unusual foreign body in the urethra: A case report 
The Australasian Medical Journal  2013;6(10):508-510.
Introduction
Various cases of self-inflicted foreign body insertion into the urethra have been reported in adult males. The most common motive for such acts has been postulated as autoerotic stimulation, psychiatric illness or intoxication.
Case presentation
A 40-year-old male presented with a partially inserted tongue cleaner in his urethra with one end projecting from the urethral meatus and with a history of bleeding and pain. After a gentle attempt of removal using local anaesthetic gel the patient was scheduled for its surgical removal under anaesthesia.
Conclusion
Large complex foreign bodies may be not amenable to endoscopic removal and may warrant open surgical procedure. Urethral stricture should be suspected in such patients. A psychiatric visit should be recommended for all adult males with self-inflicted foreign body in the urethra.
doi:10.4066/AMJ.2013.1851
PMCID: PMC3821048  PMID: 24223067
Green bottle fly; tongue cleaner; urethral trauma; unusual foreign body
10.  Variation in the lobar pattern of the right and left lungs: A case report 
The Australasian Medical Journal  2013;6(10):511-514.
The right lung has three lobes and two fissures while the left lung has two lobes and one fissure. During a routine dissection we observed a variant complete fissure and three incomplete fissures in the right lung while the left lung presented with a variant transverse fissure separating the superior lingual and anterior bronchopulmonary segments. In the right lung, the incomplete fissures lie between the apical and posterior bronchopulmonary segments; medial and lateral bronchopulmonary segments; apical and basal bronchopulmonary segments. The complete variant fissure separates the medial basal bronchopulmonary segment from the remaining basal segments. Such variant fissures and lobes are clinically important in cases of lobotomy.
doi:10.4066/AMJ.2013.1856
PMCID: PMC3821049  PMID: 24223068
Bronchopulmonary segments; Lobotomies; Lung Fissure; Lung
11.  Compressive myeloradiculopathy from bony metastasis as the initial presentation of poorly differentiated adenocarcinoma stomach – a case report 
The Australasian Medical Journal  2013;6(10):515-519.
Carcinoma of the stomach rarely disseminates to bone. We report a case of compressive myeloradiculopathy from extensive metastases to the spine, which on evaluation originated from adenocarcinoma of the stomach. Magnetic resonance imaging of the spine showed osteolytic and osteosclerotic metastases. Gastrointestinal endoscopy revealed ulcerative growth in the stomach that on biopsy showed poorly differentiated adenocarcinoma. This case is unique in that the initial presentation of gastric cancer itself was bony metastases without any gastrointestinal symptoms or liver involvement. Moreover, metastases were osteosclerotic as well, which is against the general belief that gastric cancer produces only osteolytic secondaries.
doi:10.4066/AMJ.2013.1859
PMCID: PMC3821050  PMID: 24223069
Gastric cancer; adenocarcinoma; bone metastases; osteosclerotic; alkaline phosphatase
12.  Vascular leiomyosarcoma of thigh – A rare tumour at an unusual site 
The Australasian Medical Journal  2013;6(10):520-523.
Leiomyosarcomas of vascular origin are rare. They originate from the smooth muscles of tunica media of major blood vessels. The majority of such tumours arising in the extremities affect the femoral vascular bundle. There is limited knowledge and experience of the clinical presentation, pathological reports and results of treatment of this type of tumour.
A case of primary leiomyosarcoma of femoral vein is being reported from a subtropical region of India that developed over the right thigh of a 35-year-old male farmer and was clinically diagnosed as benign soft tissue tumour. The diagnosis was confirmed by histopathology and immunohistochemistry.
doi:10.4066/AMJ.2013.1874
PMCID: PMC3821051  PMID: 24223070
Femoral vein; leiomyosarcoma; tumour; vascular
13.  Generalised staphylococcal pustulosis in a neonate: A case report 
The Australasian Medical Journal  2013;6(10):532-535.
Pustular eruptions in a neonate are mostly benign, but several are serious and have infectious aetiology. A detailed history, complete physical examination and careful assessment of the lesions are essential for diagnosis. The need to investigate every neonate with pustules for an infectious aetiology is emphasised. This case of generalised pustulosis in a neonate is reported as it is an uncommon presentation of Staphylococcus aureus infection, diagnostic difficulty caused by atypical skin lesions and similarity of clinical features with other causes of neonatal pustular diseases.
doi:10.4066/AMJ.2013.1834
PMCID: PMC3821053  PMID: 24223072
Neonate; generalised pustulosis; Staphylococcus aureus
14.  Chromoblastomycosis – A clinical mimic of squamous carcinoma 
The Australasian Medical Journal  2013;6(9):458-460.
Chromoblastomycosis is a chronic fungal infection of the skin and subcutaneous tissue caused by dematiaceous fungi. We report a case of chromoblastomycosis caused by Fonsecaea pedrosoi from a subtropical region of India that developed over the left foot of a 45-year-old male farmer and was provisionally diagnosed as squamous cell carcinoma. The patient presented with irregular warty growths over the left foot, which had started one year previously, and has gradually progressed over a year to involve the lateral aspect of left leg. The diagnosis of chromoblastomycosis was confirmed by histopathology and fungal culture.
doi:10.4066/AMJ.2013.1806
PMCID: PMC3794416  PMID: 24133538
Chromoblastomycosis; squamous cell carcinoma; Fonsecaea pedrosoi
15.  Triple falx cerebelli associated with two aberrant venous sinuses in the floor of posterior cranial fossa 
The Australasian Medical Journal  2013;6(8):397-400.
During regular dissection classes, we came across tripled falx cerebelli in a male cadaver. The main (middle) falx cerebelli was large and was attached to the internal occipital crest. It contained the occipital sinus. There were two smaller folds (right and left), one on either side of the falx cerebelli. There were two aberrant venous sinuses; each one connecting the ipsilateral sigmoid and transverse sinuses with each other. The complex dural-venous variation reported here is seldom reported in the literature. Knowledge of such variation is important for neurosurgeons and neuroradiologists as these aberrant folds could cause haemorrhage during suboccipital approaches or may lead to erroneous interpretation during imaging of the posterior cranial fossa.
doi:10.4066/AMJ.2013.1740
PMCID: PMC3767026  PMID: 24039632
falx cerebelli; dura mater; venous sinus; meninges
16.  A case report of melioidosis in a diabetic patient in a union territory 
The Australasian Medical Journal  2013;6(8):401-405.
Melioidosis is an emerging disease in India. Cases have also been reported from South East Asia, Australia and Japan. Major risk factors for melioidosis are diabetes mellitus, preexisting renal disease and thalassemia. Exposure to contaminated soil and water are also significant occupational hazards associated with the disease. A patient with diabetes of six years duration on regular medication presented with fever, generalised myalgia and headache for a week. Blood and bone marrow culture yielded Burkholderia pseudomallei. A Computed tomography (CT) study of the thorax also revealed multiple scattered nodules in both lungs. The patient was treated with imipenem and doxycycline. His condition improved gradually and he was advised oral sulfamethoxazole/trimethoprim and doxycycline for a period of three months and has been followed up regularly.
doi:10.4066/AMJ.2013.1751
PMCID: PMC3767027  PMID: 24039633
Melioidosis; Burkholderia pseudomallei; Diabetes mellitus; Bone marrow culture
17.  Ovarian pregnancy: Two case reports. 
The Australasian Medical Journal  2013;6(8):406-414.
Ovarian pregnancy is a rare event occurring in 1-3% of all ectopic pregnancies. Increased reporting might be due to the wider use of intra-uterine devices, ovulatory drugs and assisted reproductive techniques. Though ovarian pregnancy has a distinct pathology, it can be a source of clinical and intraoperative diagnostic difficulty. We report two cases of ovarian pregnancy – one primary and one secondary – that came to our notice within six months span. Unlike tubal ectopic and secondary ovarian pregnancies, patients with primary ovarian pregnancy are likely to experience success in future intra-uterine conception and negligible risk.
doi:10.4066/AMJ.2013.1760
PMCID: PMC3767028  PMID: 24039634
Ectopic pregnancy; ovarian pregnancy; assisted reproductive techniques, haemorrhagic ovarian cyst; corpus luteal cyst; pelvic inflammatory disease
18.  Salmonella paratyphi B meningitis in an infant 
The Australasian Medical Journal  2013;6(7):350-353.
We report a case of Salmonella paratyphi B meningitis in a 90 day-old male infant who was admitted with complaints of fever, vomiting and one episode of vacant stare. Clinically, the infant was found to be toxic and dull with a bulging anterior fontanelle. Subsequently, blood and cerebrospinal fluid cultures demonstrated the presence of Salmonella Paratyphi B organism.
doi:10.4066/AMJ.2013.1667
PMCID: PMC3737760  PMID: 23940494
Salmonella Paratyphi B; meningitis; infant
19.  Subcutaneous zygomycosis caused by Mucor hiemalis in an immunocompetent patient 
The Australasian Medical Journal  2013;6(7):374-377.
Zygomycosis is an opportunistic fungal infection with a high mortality rate. It is known to cause invasive disease in immunocompromised hosts but it may produce only cutaneous/ subcutaneous infections in immunocompetent hosts. Treatment is difficult due to its fulminant course and lack of effective anti-fungal drugs. Here, we report a rare case of subcutaneous zygomycosis caused by Mucor hiemalis in an immunocompetent patient without any debilitating illness. The patient was successfully treated by aggressive surgical debridement and anti-fungal therapy.
doi:10.4066/AMJ.2013.1764
PMCID: PMC3737762  PMID: 23940499
Immunocompetent; Mucor hiemalis; subcutaneous zygomycosis
20.  Forgotten but not gone - Scrofuloderma in a migrant student from India 
The Australasian Medical Journal  2013;6(7):371-373.
A 34-year-old Indian student who immigrated to Australia five years ago presented with a four-week history of neck pain. Physical examination revealed two firm fixed cervical lymph nodes in the anterior triangle and midline region which were tender on palpation and erythematous on inspection. Cording phenomenon was found on ZN staining of FNA sample and mycobacterium tuberculosis (M.tb ) PCR confirmed the diagnosis with incomplete resistance to isoniazid. Patient was treated with other three first line antituberculosis medications for nine months with an excellent outcome. Prednisolone was also used as adjunctive therapy and tapered during the course of treatment.
doi:10.4066/AMJ.2013.1759
PMCID: PMC3737763  PMID: 23940498
Scrofuloderma; Tuberculosis; Cording phenomenon
21.  Difficulties in diagnosing tuberculosis of the cervix in a post menopausal woman: Case report and literature review 
The Australasian Medical Journal  2013;6(7):367-370.
Tuberculosis (TB) of the cervix is a rare disease, especially in developed countries. We presented a patient with primary TB of the cervix with no concurrent immune deficiency or HIV infections. The case clinically mimicked carcinoma of the cervix. Difficulties in diagnosis have been discussed. Given the recent increase in migration patterns including travel from TB endemic areas, an abnormal-looking cervix should be regarded with a degree of suspicion for TB.
doi:10.4066/AMJ.2013.1749
PMCID: PMC3737765  PMID: 23940497
Tuberculosis; cervix; female genital tract
22.  Abscess mimicking pre-cervical and submandibular cystic hygroma in a newborn 
The Australasian Medical Journal  2013;6(6):318-320.
Pre-cervical inflammation is rarely seen in a newborn. Those swellings that are seen are usually congenital, such as vascular malformations, teratoma, dermoid cyst, thyroglossal cyst, cystic hygroma (abnormal lymphatic tissue), and very rarely, inflammation secondary to infection. Being able to differentiate between each condition is important because the course, treatment and prognosis for each condition are different. This case of a neck abscess in a newborn is reported due to its resemblance to cystic hygroma and highlights the similarities between the two conditions.
doi:10.4066/AMJ.2013.1631
PMCID: PMC3702135  PMID: 23837078
Pre-cervical swelling; newborn
23.  Intra–atrial tumour thrombus secondary to hepatocellular carcinoma 
The Australasian Medical Journal  2013;6(6):321-324.
Hepatocellular carcinoma (HCC) is one of the leading causes of cancer-related mortality. Hepatitis B & C accounts for most HCC occurrences. It is very rare to see a tumour thrombus extending into the right atrium of the heart as a result of the invasion of HCC. This complication has a very poor prognosis as mean survival time is about three to four months. We encountered such a rare case of hepatocellular carcinoma having extensive tumour thrombus extending into the right atrium without any cardio respiratory distress or clinical finding suggestive of cardiovascular involvement.
doi:10.4066/AMJ.2013.1635
PMCID: PMC3702136  PMID: 23837079
Hepatocellular carcinoma; tumour thrombus
24.  A case of conjunctival malignant melanoma with local recurrence 
The Australasian Medical Journal  2013;6(6):344-347.
Malignant melanoma of the conjunctiva is a rare tumour of middle and old age. It is seen predominantly in whites, and is rare in those of pigmented ethnicity. Its clinical presentation varies, and making a clinical diagnosis may be difficult. The tumour is potentially fatal and displays a high rate of recurrence, which can be attributed to delay in diagnosis, as well as inadequate surgical approach. The literature on this melanoma is scanty, even in the West, particularly regarding the precise surgical technique.
We report a case of malignant melanoma of the conjunctiva which showed a local recurrence one year after the primary surgery. However, there was no evidence of distant metastasis on either occasion. This case highlights the need for care in making a diagnosis, meticulous attention to the surgical technique, and careful follow-up to detect further disease activity.
doi:10.4066/AMJ.2013.1728
PMCID: PMC3702141  PMID: 23837084
De novo; Conjunctival malignant melanoma; Local recurrence
25.  A case of Kingella kingae endocarditis complicated by native mitral valve rupture 
The Australasian Medical Journal  2013;6(4):172-174.
We report a case of Kingella kingae endocarditis in a patient with a history of recent respiratory tract infection and dental extraction. This case is remarkable for embolic and vasculitic phenomena in association with a large valve vegetation and valve perforation. Kingella kingae is an organism known to cause endocarditis, however early major complications are uncommon. Our case of Kingella endocarditis behaved in a virulent fashion necessitating a combined approach of intravenous antibiotic therapy and a valve replacement. It highlights the importance of expedited investigation for endocarditis in patients with Kingella bacteraemia.
doi:10.4066/AMJ.2013.1577
PMCID: PMC3650306  PMID: 23671460
Kingella kingae; Endocarditis; Mitral Valve Rupture

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