Merosin-deficient congenital muscular dystrophy in two siblings

ABSTRACT

Hong Kong Med J 2004;10:423-6 | Number 6, December 2004
CASE REPORT
Merosin-deficient congenital muscular dystrophy in two siblings
CM Hui, L Kwong, SY Lam, KT Loo
Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Tsing Chung Koon Road, Tuen Mun, Hong Kong
 
 
Congenital muscular dystrophies are a group of heterogeneous inherited autosomal recessive disorders. The so-called ‘pure’ or ‘occidental’ form is further divided into merosin-positive and merosin-negative subgroups. Merosin is also expressed in the nervous system and its deficiency could affect development of the nervous system. The authors report two siblings with merosin-negative congenital muscular dystrophy. The clinical picture, biopsy findings, and abnormalities as detected by the magnetic resonance imaging of the two patients are presented.
 
Key words: Laminin; Muscular dystrophies; Congenital
 
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Diagnosis of small bowel radiation enteritis by capsule endoscopy

ABSTRACT

Hong Kong Med J 2004;10:419-21 | Number 6, December 2004
CASE REPORT
Diagnosis of small bowel radiation enteritis by capsule endoscopy
DWH Lee, AOS Poon, ACW Chan
Endoscopy Centre, St Teresa's Hospital, Kowloon, Hong Kong
 
 
We report a case of radiation-induced enteritis of the small bowel diagnosed by capsule endoscopy. A 67-year-old woman, who had received radiotherapy for a carcinoma of cervix 10 years ago, presented with passage of tarry stool and anaemia. The gastroscopy results were normal and the small bowel enema showed no abnormalities, but colonoscopy revealed altered blood clots in the right-sided colon and in the terminal ileum. M2A capsule endoscopy was subsequently performed that showed an ulcer and stricture at the distal ileum. The capsule, however, became lodged at this stricture site caused by the stenosis. A small bowel resection was performed to remove both the diseased section and the capsule, and the patient made an uneventful recovery.
 
Key words: Capsules; Endoscopy, gastrointestinal
 
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Chronic abdominal pain in a Chinese woman with spastic cerebral palsy

ABSTRACT

Hong Kong Med J 2004;10:355-7 | Number 5, October 2004
CASE REPORT
Chronic abdominal pain in a Chinese woman with spastic cerebral palsy
SK Kong, SMK Onsiong
Department of Anaesthesia, Pamela Youde Nethersole Eastern Hospital, 3 Lok Man Road, Chai Wan, Hong Kong
 
 
Pain affects people’s activities of daily living especially among those with cerebral palsy. We report a case of a woman with spastic cerebral palsy who presented with chronic abdominal pain. The principles of multidisciplinary pain management are highlighted and the difficulties when dealing with patients with special needs are discussed.
 
Key words: Acupuncture; Botulinum toxins; Cerebral palsy; Myofascial pain syndromes; Pain
 
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Jervell-Lange Nielsen syndrome in a Pakistani family

ABSTRACT

Hong Kong Med J 2004;10:351-4 | Number 5, October 2004
CASE REPORT
Jervell-Lange Nielsen syndrome in a Pakistani family
LK Yuen, NC Fong, PM Tang, CC Shek, CB Chow
Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Laichikok, Hong Kong
 
 
Congenital long QT syndrome is a rare hereditary disease that is related to the dysfunction of ion channels in cardiac cells. We report on a very rare case of its autosomal recessive form—the Jervell-Lange Nielsen syndrome—in a Pakistani family, which was diagnosed after the incidental finding of bradycardia in a newborn baby girl. We discuss the range of presentations in neonates; the importance of strong suspicion of the syndrome and family screening; the use of the diagnostic criteria and genetic tests; and the different management strategies.
 
Key words: Infant, newborn; Jervell-Lange Nielsen syndrome; Long QT syndrome
 
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A case of severe haemolytic disease of the newborn due to anti-Di(a) antibody

ABSTRACT

Hong Kong Med J 2004;10:347-9 | Number 5, October 2004
CASE REPORT
A case of severe haemolytic disease of the newborn due to anti-Di(a) antibody
JY Ting, ESK Ma, KY Wong
Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, 102 Pokfulam Road, Hong Kong
 
 
Red cell allo-antibodies directed against the Diego (Di) blood group antigen have rarely been reported to cause a haemolytic reaction against transfusion or haemolytic disease of the newborn. The frequency of the Di(a+) phenotype among the Hong Kong Chinese population is estimated to be 4.4%. We report on a case of severe haemolytic disease of the newborn due to anti-Di(a) antibody—the first local case to the best of our knowledge. Rare but clinically significant antibodies targeting red blood cells have to be considered in the investigation of haemolytic disease of the newborn when common underlying factors have been eliminated.
 
Key words: Erythroblastosis, fetal; Infant, newborn
 
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Infective thyroiditis in two cases of systemic lupus erythematosus

ABSTRACT

Hong Kong Med J 2004;10:344-6 | Number 5, October 2004
CASE REPORT
Infective thyroiditis in two cases of systemic lupus erythematosus
LM Fung, RCW Ma, CC Chow, CS Cockram
Department of Medicine and Geriatrics, Caritas Medical Centre, Shamshuipo, Kowloon, Hong Kong
 
 
We report on two patients with systemic lupus erythematosus, both of whom developed suppurative thyroiditis. One suffered from Staphylococcus aureus–induced thyroiditis and the other had tuberculous thyroiditis. The occurrence of tuberculous thyroiditis in systemic lupus erythematosus has not previously been reported. The diagnoses were made by fine-needle aspiration biopsy and subsequent bacteriological confirmation. Transient alteration of thyroid function was observed in both patients. In patients with systemic lupus erythematosus who present with fever and anterior neck pain, infection of the thyroid gland should be considered, and appropriate investigations undertaken.
 
Key words: Lupus erythematosus, systemic; Staphylococcus aureus; Thyroiditis; Tuberculosis
 
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A case of probable codeine poisoning in a young infant after the use of a proprietary cough and cold medicine

ABSTRACT

Hong Kong Med J 2004;10:285-7 | Number 4, August 2004
CASE REPORT
A case of probable codeine poisoning in a young infant after the use of a proprietary cough and cold medicine
ACW Lee, R Chan, KT So
Department of Paediatrics, Tuen Mun Hospital, Tsing Chung Koon Road, Tuen Mun, Hong Kong
 
 
We report a case of probable poisoning with codeine phosphate in a 3-month-old infant, which was associated with excessive dosing and concomitant use of antihistamines. Investigation into the patient’s drug history identified the recent use of a proprietary cough and cold medicine containing codeine phosphate and dexchlorpheniramine. The prescribing information, available from a popular prescribing handbook, listed only one dosage for children, without any adjustment for age or size, and did not bear any warning for its use in young children. A review of the handbook identified seven additional remedies that were similarly listed. Medical practitioners and pharmacists should be aware of this prescribing pitfall. Improvements are needed in the prescribing information pertaining to the use of cough and cold formulas containing opioid or opioid-like antitussives among young children, and clear warnings should be included in drug inserts and formularies.
 
Key words: Antitussive agents; Codeine; Infant; Overdose; Prescriptions, drugs
 
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Combined atrial septostomy and oral sildenafil for severe right ventricular failure due to primary pulmonary hypertension

ABSTRACT

Hong Kong Med J 2004;10:281-4 | Number 4, August 2004
CASE REPORT
Combined atrial septostomy and oral sildenafil for severe right ventricular failure due to primary pulmonary hypertension
EMC Chau, KYY Fan, WH Chow
Department of Cardiology, Grantham Hospital, 125 Wong Chuk Hang Road, Hong Kong
 
 
Management of primary pulmonary hypertension is usually difficult because the disease is uncommon and the aetiology of the disease is not well understood. The disease is potentially lethal because it can lead to failure of the right ventricle, low cardiac output, and ensuing multiple organ failure. We report the successful treatment of a case of low-output syndrome due to primary pulmonary hypertension using combined drug therapy and atrial septostomy. Latest developments in the treatment of this disease are also discussed.
 
Key words: Heart atria; Heart septum; Hypertension, pulmonary
 
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A patient with an increased troponin level without evidence of ischaemic cardiac injury

ABSTRACT

Hong Kong Med J 2004;10:277-9 | Number 4, August 2004
CASE REPORT
A patient with an increased troponin level without evidence of ischaemic cardiac injury
AOK Chan, JPS Chan, KL Choi, CC Shek
Department of Pathology, Queen Elizabeth Hospital, 30 Gascoigne Road, Kowloon, Hong Kong
 
 
A 74-year-old man was admitted for chest infection with acute exacerbation of chronic obstructive pulmonary disease. He was incidentally found to have an increased serum level of cardiac troponin I, despite the absence of symptoms and electrocardiographic evidence of ischaemic heart disease. Troponin I became undetectable after the serum was treated with polyethylene glycol, which removed any interfering antibodies. Serum cardiac troponin T was also undetectable after this treatment. Interference of the cardiac troponin I assay by heterophilic antibodies was thus confirmed. Because of the possibility of false-positive results due to immunoassay interference, clinicians should be alerted whenever laboratory findings are incompatible with the clinical picture, and should be ready to perform additional laboratory tests.
 
Key words: Antibodies, heterophile; False positive reactions; Myocardial infarction; Troponin
 
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A case of cerebellar hypoplasia in a Chinese infant with osteogenesis
imperfecta

ABSTRACT

Hong Kong Med J 2004;10:211-3 | Number 3, June 2004
CASE REPORT
A case of cerebellar hypoplasia in a Chinese infant with osteogenesis imperfecta
LJ Zhou, PL Khong, KY Wong, GC Ooi
Department of Diagnostic Radiology, The University of Hong Kong, Queen Mary Hospital, Pokfulam Road, Hong Kong
 
 
We report a unique case of unilateral cerebellar hypoplasia in a young Chinese girl with osteogenesis imperfecta type IV. Magnetic resonance imaging showed mild basilar invagination and impression. Although unilateral cerebellar hypoplasia and osteogenesis imperfecta may have been coincidental diagnoses, we propose possible mechanisms for unilateral cerebellar hypoplasia secondary to osteogenesis imperfecta. For example, cerebellar hypoplasia may have been because of vascular disruption or direct compression to the posterior circulation in utero. Foetuses with osteogenesis imperfecta are more susceptible to the above risks compared to the normal foetus because of associated craniocervical anomalies and a poorly ossified skull.
 
Key words: Arnold-chiari malformation; Magnetic resonance imaging; Osteogenesis imperfecta
 
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