Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest

ABSTRACT

Hong Kong Med J 2007;13:66-8 | Number 1, February 2007
CASE REPORT
Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest
RSY Lee, CW Lam, CK Lai, YP Yuen, KY Chan, CC Shek, AYW Chan, CB Chow
Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong
 
 
We report on three Chinese neonates with carnitine-acylcarnitine translocase deficiency. They presented within the first 48 hours of life. Two neonates were found in cardiac arrest; one of them survived after resuscitation. The third neonate suddenly developed cardiorespiratory insufficiency and succumbed eventually. The clustering of three cases in 5 years suggests that carnitine-acylcarnitine translocase deficiency is not rare in our Chinese population. We advocate that investigation for metabolic diseases including carnitine-acylcarnitine translocase deficiency should be performed in cases of sudden infant death and unexplained abrupt clinical deterioration in the early neonatal period. Non-ketotic hypoglycaemia is an early clue. The mainstay of initial treatment is glucose infusion at a rate greater than 7 mg/kg/minute, which inhibits beta-oxidation of fatty acids (the defective enzymatic steps in carnitine-acylcarnitine translocase deficiency) and thus prevents the accumulation of toxic long-chain acylcarnitines.
 
Key words: Carnitine acyltransferases; Deficiency; Sudden infant death
 
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Tuberculous retropharyngeal abscess in an HIV patient

ABSTRACT

Hong Kong Med J 2006;12:483-5 | Number 6, December 2006
CASE REPORT
Tuberculous retropharyngeal abscess in an HIV patient
R Meher, S Agarwal, I Singh
Department of ENT and Head Neck Surgery, Lok Nayak Hospital, Maulana Azad Medical College, New Delhi, India
 
 
With the emergence of the human immunodeficiency virus (HIV), the incidence of deep neck space infections and associated life-threatening complications has been on the rise. We describe a case of tubercular retropharyngeal abscess in an HIV-positive patient who developed bilateral parapharyngeal space abscesses and was treated by incision and drainage.
 
Key words: HIV; Retropharyngeal abscess; Tuberculosis
 
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Use of dynamic contrast-enhanced magnetic resonance imaging for differentiating between aggressive rectal tumours: two cases with small cell carcinoma and malignant melanoma

ABSTRACT

Hong Kong Med J 2006;12:480-2 | Number 6, December 2006
CASE REPORT
Use of dynamic contrast-enhanced magnetic resonance imaging for differentiating between aggressive rectal tumours: two cases with small cell carcinoma and malignant melanoma
N Tuncbilek, HM Karakas, OO Okten
Department of Radiology, Trakya, University Medical Faculty, Edirne, Turkey
 
 
Poorly differentiated small cell carcinomas and malignant melanomas are among the rarest of primary colorectal malignancies. Although very aggressive and lethal, small cell carcinomas and the amelanotic variety of malignant melanomas have similar radiological features to adenocarcinomas. We present two different cases with these unusual tumours, with special emphasis on their dynamic contrast-enhanced magnetic resonance imaging features. The dynamic contrast-enhanced magnetic resonance imaging revealed that these tumours have a faster and stronger enhancement pattern than most adenocarcinomas. The technique is thus potentially useful for the preoperative diagnosis of unusual aggressive tumours and for guiding the choice of treatment.
 
Key words: Carcinoma, small cell; Magnetic resonance imaging; Melanoma; Rectal neoplasms
 
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Nasal glioma

ABSTRACT

Hong Kong Med J 2006;12:477-9 | Number 6, December 2006
CASE REPORT
Nasal glioma
KH Ma, KL Cheung
Department of Otorhinolaryngology, Yan Chai Hospital, Tsuen Wan, Hong Kong
 
 
Nasal gliomas are uncommon congenital lesions arising from abnormal embryonic development. Clinically, these masses are firm and incompressible. Histologically, they are made up of astrocytes and neuroglial cells, embedded in fibrous and vascular connective tissue. Proper management of a nasal glioma requires a multidisciplinary approach including an otorhinolaryngologist, radiologist, and neurosurgeon. Radiological investigations such as computed tomography or magnetic resonance imaging should be performed to exclude intracranial extension. The mainstay of treatment is conservative surgical excision because nasal gliomas are slow-growing, rarely recurrent, and have no malignant potential. We report one case of nasal glioma in a Chinese infant. He had an uncomplicated surgical intervention with a good cosmetic result. A review of the clinical features of and diagnostic approach to nasal gliomas is also presented.
 
Key words: Glioma; Nose neoplasms; Therapy
 
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Oesophageal tuberculosis mimicking oesophageal carcinoma

ABSTRACT

Hong Kong Med J 2006;12:473-6 | Number 6, December 2006
CASE REPORT
Oesophageal tuberculosis mimicking oesophageal carcinoma
VKS Leung, WH Chan, TL Chow, ISC Luk, TN Chau, TKL Loke
Department of Medicine and Geriatrics, United Christian Hospital, Hong Kong
 
 
Tuberculous involvement of the oesophagus is rare, and is usually caused by direct spread from adjacent afflicted structures. We report an 83-year-old male patient with oesophageal tuberculosis secondary to tuberculous mediastinal lymphadenitis who presented with non-specific symptoms of anorexia and lethargy. Upper gastro-intestinal endoscopy revealed an ulcerative tumour-like lesion in the mid-oesophagus suggesting oesophageal carcinoma. Repeated endoscopic biopsies revealed a non-specific acute-on-chronic inflammation consisting of non-caseating granulomas, with no evidence of malignancy. Endoscopic ultrasonography demonstrated that the oesophageal lesion was secondary to direct extension of mediastinal lymphadenopathy. The diagnosis of tuberculosis was eventually confirmed by histological and microbiological analysis of a surgically excised cervical lymph node. The patient responded promptly to treatment with antituberculous drugs. We suggest that oesophageal tuberculosis has to be kept in mind in the differential diagnosis of oesophageal ulcerohypertrophic lesions.
 
Key words: Esophageal diseases; Tuberculosis, lymph node
 
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A not-so-uncommon presentation of an uncommon disease: nasal natural killer/T-cell lymphoma

ABSTRACT

Hong Kong Med J 2006;12:470-2 | Number 6, December 2006
CASE REPORT
A not-so-uncommon presentation of an uncommon disease: nasal natural killer/T-cell lymphoma
HHF Loong, CY Cheung, YK Lam
Department of Clinical Oncology, Prince of Wales Hospital, Shatin, Hong Kong
 
 
An otherwise well 70-year-old man presented with a non-specific complaint of epistaxis caused by an underlying necrotic natural killer-cell lymphoma complicated by a maggot infestation. He failed to attend for treatment after discharge but re-presented 3 weeks later with an acute exacerbation of his chronic pulmonary obstructive disease. During those 3 weeks his nasal condition had advanced rapidly with extensive tumour infiltration and necrosis affecting his nose and face. The natural clinical course, overall prognosis, and available treatment modalities are briefly discussed.
 
Key words: Epistaxis; Killer cells, natural; Lymphoma
 
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Metastatic Crohn's disease in a Chinese girl

ABSTRACT

Hong Kong Med J 2006;12:467-9 | Number 6, December 2006
CASE REPORT
Metastatic Crohn's disease in a Chinese girl
JTHT Yu, LY Chong, KC Lee
Yaumatei Dermatology Clinic, 12/F, Yaumatei Specialist Clinic, 143 Battery Street, Kowloon, Hong Kong
 
 
Metastatic Crohn's disease, in which non-caseating granulomatous infiltration of the skin occurs at sites separated from the gastro-intestinal tract by normal tissue, is the least common dermatologic manifestation of Crohn's disease. We report a 15-year-old girl with metastatic Crohn's disease presenting as granulomatous vulvar papules and nodules with typical histopathologic features. To the best of our knowledge, this is the first case of metastatic Crohn's disease in Chinese children reported in the English medical literature.
 
Key words: Crohn's disease
 
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Child slavery in Hong Kong: case report and historical review

ABSTRACT

Hong Kong Med J 2006;12:463-6 | Number 6, December 2006
CASE REPORT
Child slavery in Hong Kong: case report and historical review
ACW Lee, KT So
Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Tuen Mun, Hong Kong
 
 
An 11-year-old girl was admitted with multiple injuries sustained during a 1-year servitude of domestic labour. She was acquired from her parents in Mainland China by a relative in Hong Kong. The child's parents received a sum of money that the child had to repay with work. Her hardship was characterised by long hours of incessant labour and physical torture when she failed to meet the demands of her mistress or her mistress' children. This case resembles Mui Tsai, a form of child slavery and exploitative domestic labour that was rife in Hong Kong a century ago, and illustrates the new challenges to child rights and protection consequent to the increasing social and economic integration between the Hong Kong Special Administrative Region and Mainland China.
 
Key words: Child abuse; Social problems; Torture
 
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Subchondral insufficiency fracture of the femoral head

ABSTRACT

Hong Kong Med J 2006;12:460-2 | Number 6, December 2006
CASE REPORT
Subchondral insufficiency fracture of the femoral head
CC Chan, A Li, WC Fan, LK Sun, HC Cheng, JCS Chan
Department of Radiology, United Christian Hospital, Hong Kong
 
 
Subchondral insufficiency fracture of the femoral head is a recently recognised entity. There are a few cases reported in Japanese and Caucasian patients but none in the Hong Kong population. The condition typically occurs in elderly females with osteoporosis. Acute hip pain is the usual presentation. The patient may have concomitant insufficiency fractures elsewhere. Magnetic resonance imaging is usually required to make the diagnosis. The prognosis of the condition is unknown. Reported complications include rapid collapse of the femoral head and coxopathy. Joint replacement should be considered if conservative management fails.
 
Key words: Femoral neck fractures; Osteoporosis
 
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Acute renal failure associated with prolonged intake of slimming pills containing anthraquinones

ABSTRACT

Hong Kong Med J 2006;12:394-7 | Number 5, October 2006
CASE REPORT
Acute renal failure associated with prolonged intake of slimming pills containing anthraquinones
TH Kwan, MKH Tong, KT Leung, CK Lai, WT Poon, YW Chan, WH Lo, TC Au
Department of Medicine, Tuen Mun Hospital, Tuen Mun, Hong Kong
 
 
Chinese herbal medicine preparations are widely available and often regarded by the public as natural and safe remedies for a variety of medical conditions. Nephropathy caused by Chinese herbs has previously been reported, usually involving the use of aristolochic acids. We report a 23-year-old woman who developed acute renal failure following prolonged use of a proprietary Chinese herbal slimming pill that contained anthraquinone derivatives, extracted from Rhizoma Rhei (rhubarb). The renal injury was probably aggravated by the concomitant intake of a non-steroidal anti-inflammatory drug, diclofenac. Renal pathology was that of hypocellular interstitial fibrosis. Spontaneous renal recovery occurred upon cessation of the slimming pills, but mild interstitial fibrosis and tubular atrophy was still evident histologically 4 months later. Although a causal relationship between the use of an anthraquinone-containing herbal agent and renal injury remains to be proven, phytotherapy-associated interstitial nephropathy should be considered in patients who present with unexplained renal failure.
 
Key words: Drugs, Chinese herbal; Kidney failure, acute; Nephritis, interstitial; Obesity/drug therapy; Phytotherapy
 
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