Diagnosis of dihydropyrimidinase deficiency in a Chinese boy with dihydropyrimidinuria

ABSTRACT

Hong Kong Med J 2013;19:272–5 | Number 3, June 2013
DOI: 10.12809/hkmj133598
CASE REPORT
Diagnosis of dihydropyrimidinase deficiency in a Chinese boy with dihydropyrimidinuria
CW Yeung, MM Yau, CK Ma, TS Siu, Sidney Tam, CW Lam
Division of Clinical Biochemistry, Queen Mary Hospital, Pokfulam, Hong Kong
 
 
Dihydropyrimidinase deficiency is an autosomal recessive inborn error of metabolism characterised by the presence of dihydropyrimidinuria. Its clinical presentation is variable and has also been reported in asymptomatic subjects. We report the first case of dihydropyrimidinase deficiency in Hong Kong, which is also the first reported in a Chinese subject. The patient was a 32-month-old boy who presented with language development delay. Biochemical analysis confirmed markedly increased urinary excretion of dihydrouracil and dihydrothymine, whilst DNA testing confirmed that the patient was compound heterozygous for two missense mutations, one known (p.R302Q) and the other was novel (p.N16K).
 
Key words: Alanine/urine; Amidohydrolases/deficiency; Liver/metabolism
 
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Congenital pseudarthrosis of the clavicle: a rare and challenging diagnosis

ABSTRACT

Hong Kong Med J 2013;19:265–7 | Number 3, June 2013
DOI: 10.12809/hkmj133648
CASE REPORT
Congenital pseudarthrosis of the clavicle: a rare and challenging diagnosis
Tony HT Sung, Eric MW Man, Augustine TS Chan, WK Lee
Department of Radiology, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong
 
 
Congenital pseudarthrosis of the clavicle is a rare clinical entity, first described in 1910. We report on a newborn baby girl who presented with a painless lump over mid-portion of right clavicle at her routine newborn examination, which was subsequently diagnosed as a congenital pseudarthrosis. Here we explore its pathogenesis, elaborate on its differential diagnoses in paediatric patients, and comment on its distinct radiological features.
 
Key words: Birth injuries; Clavicle; Hong Kong; Infant, newborn; Pseudarthrosis
 
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Hand, foot and mouth disease in an immunocompetent adult due to Coxsackievirus A6

ABSTRACT

Hong Kong Med J 2013;19:262–4 | Number 3, June 2013
DOI: 10.12809/hkmj133692
CASE REPORT
Hand, foot and mouth disease in an immunocompetent adult due to Coxsackievirus A6
YF Shea, CY Chan, Ivan FN Hung, KH Chan
Department of Medicine, Queen Mary Hospital, Pokfulam, Hong Kong
 
 
Hand, foot and mouth disease most commonly occurs in children less than 10 years old, but can occur in immunocompetent adults. We describe a 37-year-old immunocompetent man who presented with multiple painful papules and vesicles on his palms and feet together with vesicles inside the mouth. Real-time polymerase chain reaction revealed Coxsackievirus A6 in the vesicle fluid from the feet, throat swab, and rectal swab. Since the disease is highly contagious, to contain the infection it is prudent to recognise that hand, foot and mouth disease can occur in immunocompetent adults.
 
Key words: Hand, foot and mouth disease
 
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Spontaneous carotid cavernous fistula complicating pregnancy

ABSTRACT

Hong Kong Med J 2013;19:258–61 | Number 3, June 2013
DOI: 10.12809/hkmj133634
CASE REPORT
Spontaneous carotid cavernous fistula complicating pregnancy
SW Yeung, Stephen SH Suen, Simon CH Yu, Terence T Lao, TY Leung, TK Lau
Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong
 
 
Carotid cavernous fistula is a well-documented but rare condition in pregnancy, about which there are a limited number of reports in the literature. We report such a case in a 41-year-old woman presenting with right-sided headache, proptosis, and diplopia at 37 weeks of gestation. She was subsequently diagnosed to have carotid cavernous fistula based on angiography. Embolisation was performed in the postpartum period. Carotid cavernous fistula has the potential of serious morbidity including visual loss and intracranial haemorrhage. It can be treated effectively by endovascular embolisation, which confers a good prognosis. Although headache is a common complaint during pregnancy, obstetrician should be aware of this condition if the clinical presentation is suspicious.
 
Key words: Carotid-cavernous sinus fistula; Embolization, therapeutic; Pregnancy
 
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Nasopharyngeal encephalocele: a rare cause of upper airway obstruction

ABSTRACT

Hong Kong Med J 2013;19:186–7 | Number 2, April 2013
CASE REPORT
Nasopharyngeal encephalocele: a rare cause of upper airway obstruction
Gokhan Kalkan, Sukru Paksu, Nazik Asilioglu, Mehmet Kiliç
Department of Pediatrics, Gazi University, Ankara, Turkey
 
 
Nasopharyngeal encephalocele is a rare, benign congenital anomaly. It has the potential to be fatal due to airway obstruction. Here, we report on a 34-day-old infant with pneumonia who underwent mechanical ventilation. An upper airway evaluation was performed due to prolonged intubation, and revealed the presence of a nasopharyngeal encephalocele. The patient tolerated extubation and oral feeding after surgical resection of the lesion. Awareness of the condition can help clinicians arrive at an earlier diagnosis and enhance management.
 
Key words: Airway obstruction; Encephalocele; Respiratory insufficiency
 
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Congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation: first case report from Hong Kong

ABSTRACT

Hong Kong Med J 2013;19:182–5 | Number 2, April 2013
CASE REPORT
Congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation: first case report from Hong Kong
HM Luk, Ivan FM Lo, Carmen WS Lai, Louis CK Ma, Tony MF Tong, Daniel HC Chan, Stephen TS Lam
Clinical Genetic Service, Department of Health, 2 Kwong Lee Road, Shamshuipo, Hong Kong
 
 
With the advancement of ophthalmological genetics, the molecular basis for more and more eye diseases can be elucidated. Congenital fibrosis of extraocular muscle (CFEOM) is an example. It is characterised by a congenital non-progressive restrictive ophthalmoplegia and ptosis. It is an autosomal dominant disease, caused by mutations of the KIF21A gene. With positive family history and typical ophthalmological findings, mutational analysis of KIF21A gene should be performed, not only to confirming the diagnosis, but also to offer a prognosis, for genetic counselling, and the possibility of prenatal diagnosis. Here we report the first KIF21A mutation associated with CFEOM1A in Hong Kong.
 
Key words: Chinese; DNA mutational analysis; Oculomotor muscles; Ophthalmoplegia; Pedigree
 
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Vascular calcification in a young patient with end-stage renal disease

ABSTRACT

Hong Kong Med J 2013;19:178–81 | Number 2, April 2013
CASE REPORT
Vascular calcification in a young patient with end-stage renal disease
Winnie KY Chan, KW Lee, WM But, KF Chau
Department of Paediatrics, Queen Elizabeth Hospital, Jordan, Hong Kong
 
 
Vascular calcification in children with long-standing dialysis is a unique phenomenon. Hyperphosphataemia and hyperparathyroidism are the major pathogenic risk factors. We describe a young patient with end-stage renal disease diagnosed since childhood and underwent prolonged dialysis therapy. He was admitted for recurrent episodes of acute joint pain. Investigations confirmed diffuse periarticular, vascular, and intracardiac calcifications which were rarely seen in the young population. He underwent parathyroidectomy and incidentally found to have a co-existing papillary carcinoma of thyroid. After parathyroidectomy, serial X-rays showed resorption of these calcifications.
 
Key words: Kidney failure, chronic; Vascular diseases
 
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Degos' syndrome complicated by bowel perforation: focus on radiological findings

ABSTRACT

Hong Kong Med J 2013;19:174–7 | Number 2, April 2013
CASE REPORT
Degos' syndrome complicated by bowel perforation: focus on radiological findings
Jessie TH Yeung, Johnny KF Ma, Alfred WT Yung
Department of Diagnostic Radiology, Princess Margaret Hospital, Laichikok, Hong Kong
 
 
We describe a 50-year-old man who first presented with multiple skin lesions which were characteristic of Degos' syndrome. The patient developed multiple episodes of abdominal pain. Some episodes resolved with conservative management, for others he underwent urgent operations for bowel perforations. The patient subsequently underwent extensive small bowel resection, but further systemic deterioration ensued and he died. The imaging findings of Degos' syndrome and the implications of pneumatosis intestinalis and pneumoperitoneum are discussed.
 
Key words: Intestinal perforation; Malignant atrophic papulosis; Pneumatosis cystoides intestinalis; Pneumoperitoneum; Skin diseases, vascular
 
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Asymptomatic grade-2 central chondrosarcoma of the distal femur with non-aggressive radiological features

ABSTRACT

Hong Kong Med J 2013;19:85–7 | Number 1, February 2013
CASE REPORT
Asymptomatic grade-2 central chondrosarcoma of the distal femur with non-aggressive radiological features
YL Lam, PA Koljonen, WY Ho, TP Ng, Tony WH Shek, Joyce SW Wong
Department of Orthopaedics and Traumatology, Queen Mary Hospital, Pokfulam, Hong Kong
 
 
This paper discusses the case of a 57-year-old man with an incidental finding of a radiologically non-aggressive chondroid lesion and concomitant osteonecrosis in the left distal femur. The final resected specimen showed a grade-2 chondrosarcoma. This case illustrates that longterm follow-up is necessary for non-aggressive chondroid lesions. If surgical management is considered, resection with an adequate margin is superior to intralesional curettage.
 
Key words: Bone neoplasms; Chondrosarcoma; Neoplasm recurrence, local
 
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Curative treatment for recurrent tumour implantation after ruptured hepatocellular carcinoma

ABSTRACT

Hong Kong Med J 2013;19:82–4 | Number 1, February 2013
CASE REPORT
Curative treatment for recurrent tumour implantation after ruptured hepatocellular carcinoma
Kelvin CW Chow, CN Tang, Eric CH Lai, Michael KW Li
Department of Surgery, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong
 
 
Spontaneous rupture of hepatocellular carcinoma with intraperitoneal haemorrhage is a lifethreatening condition. Intraperitoneal spread of the tumour after rupture occurs uncommonly. We report two cases of curative management for recurrent tumour implantation after ruptured hepatocellular carcinoma. The two patients presented with ruptured hepatocellular carcinoma and were treated with transarterial embolisation in the acute episode. Interval partial hepatectomy of the carcinoma was performed after the acute episodes. The first patient presented with a large epigastric mass 2 years after rupture. The mass was found to be adherent to the stomach and omentum. Distal gastrectomy was performed. The second patient presented with a right upper quadrant mass 4 months after rupture, and had a huge tumour attached to the ascending colon. Right hemicolectomy and omentectomy were performed. On histological examination, both tumours were confirmed to be recurrent hepatocellular carcinomas with clear surgical margins. After resection, both patients had no tumour recurrence at 1 year and 3 years, respectively.
 
Key words: Carcinoma, hepatocellular; Hepatectomy; Neoplasm recurrence, local; Rupture, spontaneous
 
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