Mammary angiosarcoma in two patients at either end of the age spectrum

ABSTRACT

Hong Kong Med J 2010;16:141-4 | Number 2, April 2010
CASE REPORT
Mammary angiosarcoma in two patients at either end of the age spectrum
Miranda HY Lai, CY Lui
Department of Diagnostic Radiology and Organ Imaging, United Christian Hospital, Kwun Tong, Hong Kong
 
 
Angiosarcoma of the breast is rare and has a poor prognosis due to its aggressive nature. This is a report of two patients with mammary angiosarcomas, each with different clinical presentations, and at either end of the age spectrum. One is an 18-year-old woman who presented with a rapidly enlarging breast mass, and the other a 72-year-old woman whose breast mass was found during screening mammography. The radiological features of mammary angiosarcoma are summarised in this report.
 
Key words: Breast neoplasms; Hemangiosarcoma; Neoplasm metastasis
 
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Intraventricular amphotericin for absidiomycosis in an immunocompetent child

ABSTRACT

Hong Kong Med J 2010;16:137-40 | Number 2, April 2010
CASE REPORT
Intraventricular amphotericin for absidiomycosis in an immunocompetent child
Lilian LY Tsung, XL Zhu, Winnie CW Chu, David TF Sun, KL Cheung, TF Leung
Department of Paediatrics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong
 
 
Brain abscesses are uncommon in children. We report a 3-year-old, previously healthy and immunocompetent boy, with an Absidia brain abscess. He presented with decreased sensorium and status epilepticus. The brain abscess was detected using cranial computed tomography and magnetic resonance imaging, and the diagnosis was confirmed with pus and brain tissue cultures. The patient responded to surgical drainage with concomitant intravenous and intraventricular amphotericin B.
 
Key words: Absidia; Amphotericin B; Brain abscess; Mucormycosis
 
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Retroperitoneal schwannoma: a common tumour in an uncommon site

ABSTRACT

Hong Kong Med J 2010;16:66-8 | Number 1, February 2010
CASE REPORT
Retroperitoneal schwannoma: a common tumour in an uncommon site
Jane CC Yeung, CF Chung, Jimmy SM Lai
Department of Diagnostic Radiology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong
 
 
We describe a female adult patient who presented with acute retention of urine and vague abdominal discomfort. A provisional diagnosis of ovarian tumour was made after cross-sectional imaging. At laparotomy a very large retroperitoneal mass was biopsied and found to be a schwannoma after pathological examination. The clinical, radiological, and pathological features of this disease are discussed in this report.
 
Key words: Myiasis; Orbital diseases
 
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Orbital myiasis complicating squamous cell carcinoma of eyelid

ABSTRACT

Hong Kong Med J 2010;16:63-5 | Number 1, February 2010
CASE REPORT
Orbital myiasis complicating squamous cell carcinoma of eyelid
CS Wong, Tiffany YC Chu, KF Tam
Department of Ophthalmology, Queen Mary Hospital, Pokfulam Road, Hong Kong
 
 
Myiasis is infestation of the body by fly maggots. Immobile patients with skin wounds in exposed areas are at high risk of developing myiasis. We report a case of orbital myiasis from the species Chrysomya bezziana complicating squamous cell carcinoma of the eyelid. Magnetic resonance imaging of the orbit is useful for delineating the extent of the infestation and identifying residual maggots. In extensive orbital myiasis, exenteration is needed to prevent intracranial extension of tissue destruction.
 
Key words: Neurilemmoma; Radiography, abdominal; Retroperitoneal neoplasms; Tomography, X-ray computed
 
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Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency

ABSTRACT

Hong Kong Med J 2010;16:59-62 | Number 1, February 2010
CASE REPORT
Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency
WM But, Ivan FM Lo, CC Shek, WY Tse, Steven TS Lam
Department of Paediatrics, Queen Elizabeth Hospital, 30 Gascoigne Road, Hong Kong
 
 
Cytochrome P450 oxidoreductase deficiency is a recently established autosomal recessive disease characterised by ambiguous genitalia, impaired steroidogenesis, and skeletal malformations, referred to as Antley-Bixler syndrome. Clinical manifestations in affected patients are highly variable. We report on a girl with P450 oxidoreductase deficiency who presented with virilisation at birth. There was transient maternal virilisation during pregnancy as well. She was initially diagnosed with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency and/or aromatase deficiency. At 1 year of age, skeletal abnormalities suggestive of Antley-Bixler syndrome were detected. Molecular analysis of the fibroblast growth factor receptor 2 (FGFR2) gene was normal but POR gene analysis showed that she was homozygous for an R457H missense mutation. The diagnosis, P450 oxidoreductase deficiency, was confirmed. Results of her endocrine studies and urinary steroid profiling are also presented.
 
Key words: Abnormalities, multiple; Cytochrome P-450 enzyme system; Genitalia, female; NADPH-ferrihemoprotein reductase; Steroids
 
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Q fever: underdiagnosed in Hong Kong?

ABSTRACT

Hong Kong Med J 2010;16:56-8 | Number 1, February 2010
CASE REPORT
Q fever: underdiagnosed in Hong Kong?
Jasper FW Chan, Herman Tse, Kelvin KW To, Iris WS Li, Bone SF Tang, Vincent CC Cheng, KY Yuen
Department of Microbiology, The University of Hong Kong, Queen Mary Hospital, Pokfulam Road, Hong Kong
 
 
We report the first imported case of chronic Q fever with multi-organ involvement seen in Hong Kong. Although the disease is found worldwide, its chronic form is very rare in our locality. Familiarity with the clinical presentation, useful diagnostic tools, and appropriate treatment is necessary for the prevention of the serious morbidity and mortality associated with chronic Q fever. To the best of our knowledge, this article represents the first comprehensive review to compare the local experience with Q fever with international data, and establishes a management approach for this unusual infectious disease while suggesting possible explanations for its exceptionally low incidence in this locality.
 
Key words: Animals; Coxiella burnetii; Q fever; Tickborne diseases; Zoonoses
 
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Mediastinal lymphadenopathy detected with an integrated positron emission tomographic/computed tomographic scan: a differential diagnosis to consider before minimally invasive staging

ABSTRACT

Hong Kong Med J 2009;15:486-9 | Number 6, December 2009
CASE REPORT
Mediastinal lymphadenopathy detected with an integrated positron emission tomographic/computed tomographic scan: a differential diagnosis to consider before minimally invasive staging
KY Wong, KS Yee, HN Tse, YC Chan
Integrated Medical Services, Kwong Wah Hospital, 25 Waterloo Road, Kowloon, Hong Kong
 
 
Integrated positron emission tomography combined with plain computed tomography is commonly employed as the diagnostic tool for patients presenting with lung opacities. This technology is non-invasive and does not put the patient at risk of contrast reaction. We report a case of a man who presented with fever, septicaemia, and a left apical lung opacity on chest radiography. His positron emission tomography and plain computed tomography scans showed increased uptake by the left apical lung opacity together with a huge anterior mediastinal mass, suggestive of lung cancer with mediastinal lymph node involvement, and a right upper lobe shadow. After an initial futile bronchoscopy, an endobronchial ultrasound-guided transbronchial needle aspiration of the mediastinal node was planned but a contrast computed tomographic scan of the thorax revealed no significantly enlarged mediastinal lymph nodes. The differential diagnoses of these findings, together with the limitations of positron emission tomography and plain computed tomography, are discussed.
 
Key words: Aortic aneurysm; Endosonography; Mediastinum; Positron-emission tomography; Tomography, X-ray computed
 
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Surgical recanalisation of thrombosed M2 trunk after coil embolisation of a ruptured middle cerebral artery aneurysm

ABSTRACT

Hong Kong Med J 2009;15:482-5 | Number 6, December 2009
CASE REPORT
Surgical recanalisation of thrombosed M2 trunk after coil embolisation of a ruptured middle cerebral artery aneurysm
LF Li, KM Leung, WM Lui
Department of Neurosurgery, Queen Mary Hospital, Pokfulam, Hong Kong
 
 
Thromboembolic events are known complications of endovascular coiling of intracerebral aneurysms. We report a case of a 50-year-old patient whose ruptured middle cerebral artery aneurysm was treated with endovascular coiling, which was complicated by occlusion of the inferior M2 trunk during the procedure. An emergency craniotomy was performed to enable coil retrieval, evacuation of the thrombus and clipping of the aneurysm. All the middle cerebral artery branches were recanalised and the patient recovered with no neurological deficits. Our experience suggests that an emergency salvage operation for thrombosis after endovascular coiling is a treatment option offering a good clinical outcome.
 
Key words: Aneurysm, ruptured; Embolization, therapeutic; Equipment failure analysis; Thrombosis
 
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Circulatory collapse in a patient with gastrinoma after metoclopramide administration

ABSTRACT

Hong Kong Med J 2009;15:478-81 | Number 6, December 2009
CASE REPORT
Circulatory collapse in a patient with gastrinoma after metoclopramide administration
KK Lau, KW Chan, CM Lok, Angus WS Lam, Hencher HC Lee, WF Luk, Chloe M Mak, CK Ching, Joyce Lo, SM Li, Albert YW Chan
Department of Medicine and Geriatrics, Princess Margaret Hospital, Laichikok, Hong Kong
 
 
A patient who was given metoclopramide for vomiting and diarrhoea developed circulatory collapse with his blood pressure dropping to 50/20 mm Hg. A gastrinoma was diagnosed histologically. The extent of the tumour was defined by octreotide scanning and magnetic resonance imaging. Metoclopramide was again given for colicky abdominal pain and the patient developed circulatory collapse a second time. A laparotomy involving extensive resection of the tumour was performed. The MEN1 mutation was not detected in blood or tumour tissue. Follow-up octreotide scanning did not show any residual tumour. Possible causes for the circulatory collapse are discussed. Our case is probably the first patient with gastrinoma to develop circulatory collapse after being given metoclopramide.
 
Key words: Dopamine antagonists; Gastrinoma; Metoclopramide; Neuroendocrine tumors; Serotonin
 
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Enzyme replacement therapy for infantile Pompe disease during the critical period and identification of a novel mutation

ABSTRACT

Hong Kong Med J 2009;15:474-7 | Number 6, December 2009
CASE REPORT
Enzyme replacement therapy for infantile Pompe disease during the critical period and identification of a novel mutation
WM But, SH Lee, Angel OK Chan, Gene TC Lau
Department of Paediatrics, Queen Elizabeth Hospital, 30 Gascoigne Road, Kowloon, Hong Kong
 
 
Pompe disease (acid maltase deficiency, glycogen storage disease type II) is a rare progressive autosomal recessive disorder caused by a deficiency of lysosomal hydrolase acid alpha-glucosidase. Historically, infantile-onset Pompe disease presents with cardiomegaly, hepatomegaly, weakness and hypotonia leading to death caused by cardiorespiratory failure in the first year of life. Enzyme replacement therapy has recently become available and has been shown to be effective in prolonging survival and improving respiratory performance. In this article, we report a case of infantile-onset Pompe disease successfully managed with enzyme replacement therapy during the critical period. We would like to highlight the occurrence of sudden cardiac arrest in our patient during the early course of enzyme replacement therapy, which has not been reported before. A novel mutation was also identified in the family.
 
Key words: alpha-Glucosidases; Cardiomyopathy, hypertrophic, familial; Glycogen storage disease type II; Heart arrest; Infant
 
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