Hyperammonaemic encephalopathy in an adult patient with citrin deficiency associated with a novel mutation

ABSTRACT

Hong Kong Med J 2011;17:410-3 | Number 5, October 2011
CASE REPORT
Hyperammonaemic encephalopathy in an adult patient with citrin deficiency associated with a novel mutation
YW Ng, Angel OK Chan, YT Au Yeung, Gene TC Lau, CW Cheng, CC Shek, SC Tiu
Department of Medicine, Queen Elizabeth Hospital, 30 Gascoigne Road, Hong Kong
 
 
We report on an adult patient with citrin deficiency in Hong Kong, in whom a novel mutation was identified. The patient presented with recurrent hyperammonaemic encephalopathy due to impairment of the liver urea cycle enzyme argininosuccinate synthetase. This autosomal recessive condition is also characterised by interesting food preferences, notably aversion to carbohydrates and craving for protein-rich and/or lipid-rich foods, as well as neuropsychiatric symptoms. Plasma amino acid analysis is very useful in revealing urea cycle disorders, and mutational analysis of the SLC25A13 gene can confirm the diagnosis.
 
Key words: Citrullinemia; Hepatitis; Membrane transport proteins; Mitochondrial proteins
 
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Severe community-acquired pneumonia caused by macrolide-resistant Mycoplasma pneumoniae in a 6-year-old boy

ABSTRACT

Hong Kong Med J 2011;17:407-9 | Number 5, October 2011
CASE REPORT
Severe community-acquired pneumonia caused by macrolide-resistant Mycoplasma pneumoniae in a 6-year-old boy
David C Lung, YH Chan, L Kwong, TL Que
Department of Clinical Pathology, Tuen Mun Hospital, Tuen Mun, Hong Kong
 
 
Mycoplasma pneumoniae is the commonest agent causing atypical pneumonia in children. Macrolides have long been used in the treatment of community-acquired pneumonia not responsive to beta-lactams alone. In this report, we describe the first locally acquired paediatric patient with severe community-acquired pneumonia caused by macrolideresistant Mycoplasma pneumoniae, possessing an A-to-G transition at position 2063 of the 23s rRNA gene. In addition, we have detected two more strains of macrolide-resistant Mycoplasma pneumoniae out of a total of 10 cases with chest infection that were confirmed by polymerase chain reaction. Therefore macrolide-resistant Mycoplasma pneumoniae accounted for 33% (3 out of 10 patients) of the polymerase chain reaction–confirmed cases.
 
Key words: Community-acquired infections; Doxycycline; Drug resistance, bacterial; Macrolides; Mycoplasma pneumoniae
 
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Necrotising fasciitis caused by Vibrio vulnificus in the lower limb following exposure to seafood on the hand

ABSTRACT

Hong Kong Med J 2011;17:335-7 | Number 4, August 2011
CASE REPORT
Necrotising fasciitis caused by Vibrio vulnificus in the lower limb following exposure to seafood on the hand
Vincent Hau, CO Ho
Department of Orthopaedics and Traumatology, Caritas Medical Centre, 111 Wing Hong Street, Shamshuipo, Hong Kong
 
 
Vibrio vulnificus infection mainly manifests as primary bacteraemia or gastroenteritis following injection of the microorganism, and wound infection through direct inoculation. Injury from exposure to the microorganism and development of necrotising fasciitis at a remote site and sepsis are rare. This report is of a high-risk patient with haemoglobin H disease who developed necrotising fasciitis in the lower limb after exposure to seafood on the hand.
 
Key words: Fasciitis, necrotizing; Gram-negative bacterial infections; Hemoglobin H; Vibrio infections; Wound infection
 
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An unusual cause of obstructive jaundice

ABSTRACT

Hong Kong Med J 2011;17:332-4 | Number 4, August 2011
CASE REPORT
An unusual cause of obstructive jaundice
ST Law, WK Lee, Michael KK Li, KH Lok
Department of Medicine and Geriatrics, Tuen Mun Hospital, Tuen Mun, Hong Kong
 
 
Small-cell carcinomas of lung origin have been well characterised for their clinico-histopathological features. However, extrapulmonary small-cell carcinomas are rare, and in particular, they are extremely rare at the ampullary region. We report herein a case of small-cell carcinoma of ampulla of Vater and review its clinical, histological, and immunohistochemical features.
 
Key words: Ampulla of Vater; Carcinoid tumor; Gastrointestinal neoplasms
 
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An uncommon cause of recurrent falls in an elderly man

ABSTRACT

Hong Kong Med J 2011;17:328-31 | Number 4, August 2011
CASE REPORT
An uncommon cause of recurrent falls in an elderly man
Jenny SW Lee, K Wang, Tom CY Cheung, Timothy CY Kwok, Anil T Ahuja
Department of Medicine and Geriatrics, Shatin Hospital, Hong Kong
 
 
Falls are common among the elderly population. Examinations for the cause of falls are usually mundane, but may be challenging, leading to surprising diagnoses. We report on a previously healthy elderly man who presented with repeated falls and rapidly progressive limitations in mobility, in addition to a stutter. Neuroimaging was particularly helpful for making the diagnosis in this patient.
 
Key words: Accidental falls; Aged; Diagnostic imaging; Frontotemporal lobar degeneration; Primary progressive nonfluent aphasia
 
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Post-oesophagectomy anastomotic-bronchial fistula

ABSTRACT

Hong Kong Med J 2011;17:325-7 | Number 4, August 2011
CASE REPORT
Post-oesophagectomy anastomotic-bronchial fistula
Daniel KH Tong, Simon Law
Division of Esophageal and Upper Gastrointestinal Surgery, Department of Surgery, University of Hong Kong Medical Centre, Queen Mary Hospital, Pokfulam, Hong Kong
 
 
Anastomotic leakage after oesophagectomy is a dreaded complication. It has a wide range of presentations ranging from the patient being totally asymptomatic to septic with multi-organ failure. From the literature, in general, cervical anastomoses have a higher leakage rate than those that are intra-thoracic, but leaks from the latter confer greater morbidity. Cervical anastomotic leaks that are truly confined to the neck can be managed conservatively, but can extend into the mediastinum and result in more serious complications. Herein, we report on a patient with an oesophago-gastric anastomosis constructed in the neck but with extension into the mediastinum. Subsequently, the patient developed a fistulous erosion into the tracheobronchial tree, which was successfully managed endoscopically.
 
Key words: Anastomosis, surgical; Esophagectomy; Postoperative complications
 
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A case of young-onset dementia

ABSTRACT

Hong Kong Med J 2011;17:248-51 | Number 3, June 2011
CASE REPORT
A case of young-onset dementia
KW Liu, David LK Dai, K Wang, CY Cheung
Department of Medicine and Therapeutics, Prince of Wales Hospital, Shatin, Hong Kong
 
 
Dementia is a major worldwide public health concern in view of the global ageing phenomenon. Dementia usually occurs in old age. However, if the symptoms occur in young patients, the diagnosis can be challenging. Posterior cortical atrophy is a variant of the Alzheimer’s disease, which is described as a presenile disease affecting relatively late-middleaged patients. A combination of clinical, neuropsychological, and neuroimaging techniques may facilitate making a diagnosis of this particular patient group, as demonstrated in this report. Although there is no effective disease-modifying agent for treating these patients to date, there may be considerable pressure to arrive at a quick and accurate diagnosis from the perspective of employment and insurance.
 
Key words: Alzheimer disease; Atrophy; Dementia; Electroencephalography; Neuropsychological tests
 
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Hypertrophic pyloric stenosis in a newborn: a diagnostic dilemma

ABSTRACT

Hong Kong Med J 2011;17:245-7 | Number 3, June 2011
CASE REPORT
Hypertrophic pyloric stenosis in a newborn: a diagnostic dilemma
Shannon M Chan, Edwin KW Chan, Winnie CW Chu, ST Cheung, YH Tam, KH Lee
Division of Paediatric Surgery and Paediatric Urology, Department of Surgery, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong
 
 
Infants with hypertrophic pyloric stenosis typically present at 2 to 4 weeks of age with nonbilious projectile vomiting. Hypertrophic pyloric stenosis is exceedingly rare in newborn infants and is scarcely reported in literature. Also, the diagnostic criteria for ultrasonographic measurements in newborn infants have yet to be determined. This report is of a newborn infant with hypertrophic pyloric stenosis. The patient presented with high-volume non-bile- stained output from a nasogastric tube and a dilated gastric bubble on abdominal radiograph. Contrast study ruled out intestinal malrotation. Two ultrasound tests showed that the pyloric muscle thickness and pyloric canal length were within normal limits. Subsequent laparotomy showed a thickened pylorus and pyloromyotomy was performed. The patient showed marked improvement in feeding postoperatively. A high index of suspicion is required for newborn infants presenting with gastric outlet obstruction. Ultrasound and contrast studies provide additional information, but definitive diagnosis may only be available intra_operatively.
 
Key words: Hypertrophy; Infant, newborn; Pyloric stenosis; Ultrasonography, Doppler
 
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Giant myxoma causing right ventricular outflow tract obstruction

ABSTRACT

Hong Kong Med J 2011;17:242-4 | Number 3, June 2011
CASE REPORT
Giant myxoma causing right ventricular outflow tract obstruction
Flora HF Tsang, LC Cheng
Division of Cardiothoracic Surgery, Department of Surgery, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong
 
 
Atrial cardiac myxoma is the most common benign cardiac tumour. Atrial myxoma most commonly arises from the left atrium and, less frequently, from the right atrium or both ventricles. Cardiac myxoma arising from the tricuspid valve is rare. These tumours can present with right heart failure as a result of right ventricular outflow tract obstruction. A high index of suspicion and appropriate investigations are necessary for making the correct diagnosis. Fatal complications such as embolisation and obstruction of the outflow tract and other intracardiac structures make prompt surgical intervention necessary. We report on a patient with a rare type of giant myxoma arising from the tricuspid valve. He underwent successful operation with en-bloc removal of the tumour, while preserving the integrity of the tricuspid valve.
 
Key words: Heart valve diseases; Myxoma; Tricuspid valve; Ventricular outflow obstruction
 
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Common association of haemolytic uraemic syndrome with invasive Streptococcus pneumoniae infection in five Chinese paediatric patients

ABSTRACT

Hong Kong Med J 2011;17:237-40 | Number 3, June 2011
CASE REPORT
Common association of haemolytic uraemic syndrome with invasive Streptococcus pneumoniae infection in five Chinese paediatric patients
CC So, YY Leung, SF Yip, SY Chan, Clarence CK Lam, Godfrey CF Chan, Stella Chim, LC Chan
Department of Pathology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong
 
 
Haemolytic uraemic syndrome is an important cause of acute renal impairment in childhood. We review the incidence, and clinical and laboratory features of haemolytic uraemic syndrome in a Chinese population. Five patients were identified from 2006 to 2008. All patients were young children with associated invasive Streptococcus pneumoniae pulmonary infection. Serotypes 3, 14, and 19A were confirmed in four patients. The classical post-diarrhoeal form associated with Escherichia coli (O157:H7) infection was not seen. One patient died of acute respiratory failure. Streptococcus pneumoniae infection, as an associated condition in haemolytic uraemic syndrome, is important and relatively common in Chinese patients, especially among children. The acute clinical picture is similar to that reported in the western literature, except for an uncommon association with meningitis. The medium-term renal outcome of the Chinese population appears to be more favourable than the Caucasians. Widespread vaccination against Streptococcus pneumoniae may have resulted in changes in bacterial epidemiology and clinicians should be continuously aware of this severe disease. The use of washed blood components for transfusion in the acute stage requires further study.
 
Key words: Hemolytic-uremic syndrome; Pneumococcal infections; Serotyping; Streptococcus pneumoniae; Vaccination
 
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