Cystinuria: a rare diagnosis that should not be missed

ABSTRACT

Hong Kong Med J 2008;14:399-401 | Number 5, October 2008
CASE REPORT
Cystinuria: a rare diagnosis that should not be missed
Peter KF Chiu, Eddie SY Chan, Simon SM Hou, CF Ng
Department of Surgery, The Chinese University of Hong Kong, Shatin, Hong Kong
 
 
Cystinuria is a rare autosomal recessive defect causing recurrent urinary tract stone formation. Morbidity from stone formation and repeated urological interventions can be reduced by early diagnosis and adequate medical treatment. In this review, we illustrate these points by discussing three patients with cystinuria and give a brief review of its management.
 
Key words: Cystine; Cystinuria; Treatment outcome; Urinary calculi
 
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The first nocturnal home haemodialysis patient in Hong Kong

ABSTRACT

Hong Kong Med J 2008;14:395-8 | Number 5, October 2008
CASE REPORT
The first nocturnal home haemodialysis patient in Hong Kong
HL Tang, Candic MK Tang, KH Chu, W Lee, A Cheuk, KF Yim, KS Fung, Hilda WH Chan, KL Tong
Division of Nephrology, Department of Medicine and Geriatrics, Princess Margaret Hospital, Laichikok, Hong Kong
 
 
We report our experience of the first use of nocturnal home haemodialysis in Hong Kong. The patient, a 40-year-old man with end-stage renal failure, was recruited into the Nocturnal Home Haemodialysis Programme at Princess Margaret Hospital in 2006. He received haemodialysis at home on alternate nights (3.5 sessions per week) for 5.5 to 6 hours per session. After 1 year of nocturnal home haemodialysis, his recombinant human erythropoietin requirement had been reduced by more than 50%. His serum phosphate level decreased by 35% and calcium phosphate product by 34%. After nocturnal home haemodialysis, his blood pressure control has been excellent and he was able to cease taking anti-hypertensive medications soon after commencing nocturnal home haemodialysis. Regression of his left ventricular hypertrophy has also been noted, with a 39% decrease in his left ventricular mass index. The haemodialysis adequacy index, weekly single-pool Kt/V, increased by 59% after switching to nocturnal home haemodialysis and his quality-of-life indices also showed significant improvement. Nocturnal home haemodialysis holds promise as an alternative dialytic therapy for patients on chronic haemodialysis in Hong Kong.
 
Key words: Blood pressure; Hemodialysis, home; Kidney failure, chronic; Phosphates; Quality of life
 
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Does chronic radiation enteritis pose a diagnostic challenge? A report of three cases

ABSTRACT

Hong Kong Med J 2008;14:327-30 | Number 4, August 2008
CASE REPORT
Does chronic radiation enteritis pose a diagnostic challenge? A report of three cases
Abdulzahra Hussain, Hind Mahmood, Adrian Thomas, Claire Frazer, Shamsi El-Hasani
Department of General Surgery, Princess Royal University Hospital, Farnborough Common, BR6 8ND, Kent, United Kingdom
 
 
We present three cases of late radiation enteritis, all admitted through the accident and emergency unit and managed in the surgical department. All presented with acute symptoms. Two had abdominal pain, nausea, and vomiting and in these two cases, plain radiology and computed tomography scans demonstrated small bowel obstruction. Exploratory laparotomies confirmed chronic radiation damage to the small bowel. The affected areas were resected and anastomoses were performed. The postoperative course was uneventful. The other patient presented with bleeding per rectum and a colonoscopy with biopsy of the rectum confirmed proctitis and radiation enteritis. This patient was treated conservatively and responded well. The key factor needed for successful diagnosis and management of chronic radiation enteritis is a high index of suspicion leading to appropriate use of imaging.
 
Key words: Enteritis; Intestine, small; Radiation injuries
 
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Bilateral cervical spondylolysis in a young Chinese woman presenting with a neck injury

ABSTRACT

Hong Kong Med J 2008;14:324-6 | Number 4, August 2008
CASE REPORT
Bilateral cervical spondylolysis in a young Chinese woman presenting with a neck injury
Annie CW Tam, John LY Leung, KY Lau, PK Yee
Department of Radiology, Pamela Youde Nethersole Eastern Hospital, Chai, Hong Kong
 
 
Cervical spondylolysis is an uncommon entity. It is important to recognise its characteristic radiological features and differentiate it from acute cervical fractures or dislocations in patients with neck injuries. We report the relevant clinical and radiological findings seen in a young Chinese woman managed in our hospital after a neck injury who was ultimately diagnosed with bilateral cervical spondylolysis with spondylolisthesis at C6.
 
Key words: Spondylolisthesis; Spondylolysis; Tomography, X-ray computed
 
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Severe right heart failure in two patients with thyrotoxicosis

ABSTRACT

Hong Kong Med J 2008;14:321-3 | Number 4, August 2008
CASE REPORT
Severe right heart failure in two patients with thyrotoxicosis
Vicki HK Tam, LM Fung
Department of Medicine and Geriatrics, Caritas Medical Centre, Shamshuipo, Hong Kong
 
 
Congestive heart failure is a recognised complication of uncontrolled thyrotoxicosis but isolated right heart failure is rarely seen in association with thyrotoxicosis. Two cases of right heart failure associated with thyrotoxicosis are presented. In a 45-year-old man with right heart failure, investigations for all common secondary causes of right heart failure were negative. The only concurrent disease identified was thyrotoxicosis. The right heart failure subsided after treatment of the thyrotoxicosis. In a 36-year-old woman, the right heart failure had two underlying causes, thyrotoxicosis and an atrial septal defect. Treatment of thyrotoxicosis alone resulted in improvement of pulmonary hypertension and right heart failure. Thyrotoxicosis should be considered as a possible cause of pulmonary hypertension or isolated right heart failure.
 
Key words: Heart failure; Heart septal defects, atrial; Hypertension, pulmonary; Thyrotoxicosis
 
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Prenatal sonographic diagnosis of familial Holt-Oram syndrome associated with type B interrupted aortic arch

ABSTRACT

Hong Kong Med J 2008;14:317-20 | Number 4, August 2008
CASE REPORT
Prenatal sonographic diagnosis of familial Holt-Oram syndrome associated with type B interrupted aortic arch
KM Law, KT Tse
Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, 30 Gascoigne Road, Kowloon, Hong Kong
 
 
We present a rare case of familial Holt-Oram syndrome diagnosed sonographically at 18 weeks of gestation. The foetus had serious bilateral upper limb malformations, a ventricular septal defect and a type B interrupted aortic arch, while the mother had bilateral upper limb malformations only. The pregnancy was terminated. A pathological and radiological examination of the foetus confirmed the prenatal sonographic findings. Although genetic investigation of TBX5 mutations was not available in our locality at the time of diagnosis, the geneticists made a clinical diagnosis of familial Holt-Oram syndrome. The clinical features of our case completely fulfilled the strict diagnostic criteria for the syndrome. The cardiac malformations most commonly associated with Holt-Oram syndrome are atrial or ventricular septal defects. To the best of our knowledge, a prenatal diagnosis of Holt-Oram syndrome in association with a type B interrupted aortic arch has not been reported in the English literature before.
 
Key words: Heart defects, congenital; Upper extremity deformities, congenital; Syndrome; Ultrasonography, prenatal
 
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A rare cutaneous fungal infection complicating bacterial necrotising fasciitis

ABSTRACT

Hong Kong Med J 2008;14:314-6 | Number 4, August 2008
CASE REPORT
A rare cutaneous fungal infection complicating bacterial necrotising fasciitis
CK Chen, SH Wan, SK Kou
Department of Orthopaedics and Traumatology, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong
 
 
We report a case of bacterial necrotising fasciitis complicated by the rare fungus Absidia corymbifera. Although this fungal infection is rare, the prognosis is poor and it therefore requires attention. Only 30 cases have been reported since 1874, and we are the first group to report this clinical scenario in our locality. Using a comprehensive journal review, we discuss the expected clinical course and optimal management.
 
Key words: Absidia; Fasciitis, necrotizing; Mucormycosis
 
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Primitive neuroectodermal tumour of the kidney: radiologic-pathological correlations

ABSTRACT

Hong Kong Med J 2008;14:240-3 | Number 3, June 2008
CASE REPORT
Primitive neuroectodermal tumour of the kidney: radiologic-pathological correlations
YW Chea, Rashi Agrawal, Angeline CC Poh
Department of Diagnostic Radiology, Singapore General Hospital, Outram Road, Singapore 169608
 
 
A primitive neuroectodermal tumour of the kidney is a rare malignancy. We report the computed tomographic features and the histopathological correlation of such a tumour occurring in a middle-aged man. Although the radiological appearance has significant overlap with other renal tumours, this tumour should be included in the differential diagnosis of a large renal mass in younger patients.
 
Key words: Kidney neoplasms; Neuroectodermal tumors, primitive, peripheral; Tomography, X-ray computed
 
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Multimodal computed tomography evaluation before thrombolysis in acute ischaemic stroke

ABSTRACT

Hong Kong Med J 2008;14:236-9 | Number 3, June 2008
CASE REPORT
Multimodal computed tomography evaluation before thrombolysis in acute ischaemic stroke
Thomas W Leung, Wynnie WM Lam, Simon CH Yu, Cecilia SF Leung, Yannie OY Soo, Lawrence KS Wong
Division of Neurology, Department of Medicine and Therapeutics, Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, Hong Kong
 
 
Currently, when stroke patients are offered thrombolytic therapy, their ischaemic stroke subtypes are usually unknown. Given the risk of haemorrhage that accompanies thrombolytic therapy, unselective (or undiscriminating) use of recombinant tissue plasminogen activator in patients without large-artery thromboemboli is potentially hazardous. Advances in computed tomography techniques have enabled the stroke pathophysiology to be quickly delineated by multimodal computed tomography without compromise in time for recombinant tissue plasminogen activator administration. Through description of the investigation of a typical stroke patient, we report how this technique is feasible in a regional hospital and may guide judicious use of recombinant tissue plasminogen activator.
 
Key words: Cerebral hemorrhage; Thrombolytic therapy; Tissue plasminogen activator; Tomography, X-ray computed
 
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Acute myocardial infarction found by multi-detector computed tomography ordered for suspected aortic dissection

ABSTRACT

Hong Kong Med J 2008;14:233-5 | Number 3, June 2008
CASE REPORT
Acute myocardial infarction found by multi-detector computed tomography ordered for suspected aortic dissection
Sherwin SW Lo, WK Kwok
Department of Radiology, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong
 
 
Urgent requests for contrast computed tomographic scans of the thorax are often performed for suspected aortic dissections and pulmonary embolisms, both of which have clinical features similar to those seen in acute myocardial infarction. We present two cases with computed tomographic scans showing decreased myocardial enhancement, suggestive of acute myocardial infarction, but no evidence of aortic dissection. Acute myocardial infarction was subsequently confirmed by coronary angiography.
 
Key words: Coronary angiography; Myocardial infarction; Tomography, X-ray computed
 
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