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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Persistent hypocalcaemia in a Chinese girl due to a novel de-novo activating mutation of the calcium-sensing receptor gene

ABSTRACT

Hong Kong Med J 2011;17:157-60 | Number 2, April 2011
CASE REPORT
Persistent hypocalcaemia in a Chinese girl due to a novel de-novo activating mutation of the calcium-sensing receptor gene
WC Wong, CW Lam, SF Tong, CT Tong
Department of Paediatrics and Adolescent Medicine, Alice Ho Miu Ling Nethersole Hospital, Tai Po, Hong Kong
 
 
A significant proportion of patients formerly diagnosed with idiopathic hypoparathyroidism actually have activating mutation of the calcium-sensing receptor (CaSR) gene. Awareness of the possibility of activating mutation of CaSR gene in patients with sporadic idiopathic hypoparathyroidism is important because of its relevance to clinical management. This report is of a novel activating mutation of the CaSR gene identified in a 10-year-old Chinese girl who was initially diagnosed as having idiopathic hypoparathyroidism at 6 years of age after presenting with seizures. Her serum calcium level was difficult to maintain near the lower limit of normal despite treatment with high-dose calcitriol. Treatment with calcitriol produced significantly elevated urinary calcium-to-creatinine ratio. Direct sequencing of the CaSR gene showed a novel heterozygous mutation (p.Q735P (c.2204A>C)). Molecular genetic analysis of her parents demonstrated that both parents did not harbour the child's mutation, indicating that her mutation had arisen de novo.
 
Key words: Hypocalcemia; Hypoparathyroidism; Mutation, missense; Receptors, calcium-sensing
 
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Cerebral venous thrombosis secondary to ovarian hyperstimulation syndrome

ABSTRACT

Hong Kong Med J 2011;17:155-6 | Number 2, April 2011
CASE REPORT
Cerebral venous thrombosis secondary to ovarian hyperstimulation syndrome
BL Man, Andrew CF Hui
Department of Medicine and Therapeutics, Prince of Wales Hospital, Shatin, Hong Kong (now at Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong)
 
 
We report a case of a woman who underwent in-vitro fertilisation embryo transfer treatment for infertility and developed an acute stroke (left hemiparesis and headache). The stroke was caused by cerebral venous thrombosis due to ovarian hyperstimulation syndrome. We review the current background about this uncommon disorder.
 
Key words: Cerebral infarction; Chorionic gonadotropin; Ovarian hyperstimulation syndrome; Ovulation induction
 
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Intracranial aneurysms in twins: case report and review of the literature

ABSTRACT

Hong Kong Med J 2011;17:151-4 | Number 2, April 2011
CASE REPORT
Intracranial aneurysms in twins: case report and review of the literature
HK Leung, Y Lam, KM Cheng, CM Chan, YL Cheung
Department of Neurosurgery, Queen Elizabeth Hospital, Kowloon, Hong Kong
 
 
Intracranial aneurysm in twins is a rare clinical disease entity. Only 15 cases have been described in the literature. We report on a pair of identical twins with intracranial aneurysms. One presented with subarachnoid haemorrhage; digital subtraction angiography showed a left posterior communicating artery aneurysm, which was treated by coiling. The patient's twin sister was called for screening, whereupon digital subtraction angiography revealed a right ophthalmic internal carotid artery aneurysm that was treated conservatively.
 
Key words: Diseases in twins; Intracranial aneurysm; Subarachnoid hemorrhage; Twins, monozygotic
 
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Deep brain stimulation in a Chinese Tourette's syndrome patient

ABSTRACT

Hong Kong Med J 2011;17:147-50 | Number 2, April 2011
CASE REPORT
Deep brain stimulation in a Chinese Tourette's syndrome patient
Michael WY Lee, Mandy M Au-Yeung, KN Hung, CK Wong
Department of Neurosurgery, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong
 
 
A 31-year-old Chinese man with intractable severe, lifelong Tourette's syndrome characterised by forceful self-injurious motor tics and socially embarrassing vocal tics was treated with bilateral deep brain stimulation. Electrodes were implanted into the thalamic targets at the centromedian-parafascicular complex according to Hassler's nomenclature. A dramatic reduction of tics resulted. At 18 months postoperatively, there was an 81% improvement in his total tics count and a 58% improvement in his Yale Global Tic Severity Scale. His modified Rush video scale decreased from 13 to 8 and visual analogue scale from 10 to 3. These data show that bilateral deep brain stimulation of the thalamus can have a favourable immediate effect on severe tics in a selected group of adult patients suffering from intractable Tourette's syndrome and postoperatively the beneficial effects persisted for at least 18 months.
 
Key words: Deep brain stimulation; Electric stimulation therapy; Midline thalamic nuclei; Tic disorders; Tourette syndrome
 
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Refractory bulbar and respiratory dysfunction in a young Chinese woman with seronegative, muscle-specific tyrosine kinase antibody-positive myasthenia gravis: response to cyclophosphamide and rituximab treatment

ABSTRACT

Hong Kong Med J 2011;17:77-9 | Number 1, February 2011
CASE REPORT
Refractory bulbar and respiratory dysfunction in a young Chinese woman with seronegative, muscle-specific tyrosine kinase antibody-positive myasthenia gravis: response to cyclophosphamide and rituximab treatment
Alexander YL Lau, Anne YY Chan, Vincent CT Mok
Division of Neurology, Department of Medicine and Therapeutics, Prince of Wales Hospital, Shatin, Hong Kong
 
 
The use of cyclophosphamide and rituximab for patients with refractory myasthenia gravis has shown promising results. We report on a 31-year-old Chinese woman with acetylcholine receptor antibody-negative and muscle-specific tyrosine kinase antibody-positive generalised myasthenia gravis who had refractory bulbar dysfunction and respiratory failure despite immunosuppressive therapy and thymectomy, and partial and sustained responses to cyclophosphamide and rituximab treatment, respectively. Myasthenia crisis was diagnosed when she presented in the third trimester of pregnancy with dysphagia, bilateral ptosis, prominent fatigability, and respiratory failure. She required prolonged intensive care and non-invasive ventilatory support despite several courses of intravenous immunoglobulins and plasmapheresis. Pulse cyclophosphamide 500 mg/m2 was given monthly for 4 consecutive months with a partial response. Rituximab 500 mg weekly was subsequently given for 4 weeks with a dramatic and sustained response. She remained symptom-free and assumed full maternal care at 1 year. To the authors’ knowledge, this is the first report of a Chinese patient with refractory myasthenia gravis who responded to cyclophosphamide and rituximab.
 
Key words: Cyclophosphamide; Muscular atrophy; Myasthenia gravis; Receptor proteintyrosine kinases
 
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An uncommon adverse effect of levodopa withdrawal in a patient taking antipsychotic medication: neuroleptic malignant-like syndrome

ABSTRACT

Hong Kong Med J 2011;17:74-6 | Number 1, February 2011
CASE REPORT
An uncommon adverse effect of levodopa withdrawal in a patient taking antipsychotic medication: neuroleptic malignant-like syndrome
SP Man
Department of Medicine and Geriatrics, Tuen Mun Hospital, Tuen Mun, Hong Kong
 
 
A patient with symptoms suggestive of neuroleptic malignant syndrome after levodopa withdrawal is described. The patient presented with persistent high fever, stupor, autonomic dysfunction, rigidity, and rhabdomyolysis. He was successfully treated with intravenous dantrolene, resumption of levodopa, and forced alkaline diuresis. Doctors should be aware of the risk of abrupt cessation of dopamine agonists.
 
Key words: Antipsychotic agents; Dantrolene; Levodopa; Neuroleptic malignant syndrome; Substance withdrawal syndrome
 
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Relapse of amoebic infection 10 years after the infection

ABSTRACT

Hong Kong Med J 2011;17:71-3 | Number 1, February 2011
CASE REPORT
Relapse of amoebic infection 10 years after the infection
CH Ng, Lawrence Lai, KS Ng, KK Li
Department of Medicine, Tuen Mun Hospital, Tuen Mun, Hong Kong
 
 
A 52-year-old man with schizophrenia, who had a history of amoebic liver abscess treated with combination antimicrobial agents, presented 10 years later with severe rectal bleeding. Diagnosis of amoebic colitis was confirmed by histological examination of endoscopic biopsy. Doctors treating patients with amoebic infection should be aware of the risk of eradication failure. Post-treatment stool testing, preferably by antigen testing or polymerase chain reaction, should be performed after antimicrobial treatment.
 
Key words: Dysentery, amebic; Entamoeba histolytica; Entamoebiasis; Enzyme-linked immunosorbent assay; Polymerase chain reaction
 
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RYR1-related central core myopathy in a Chinese adolescent boy

ABSTRACT

Hong Kong Med J 2011;17:67-70 | Number 1, February 2011
CASE REPORT
RYR1-related central core myopathy in a Chinese adolescent boy
Bosco Chan, Sammy PL Chen, WC Wong, Chloe M Mak, S Wong, KY Chan, Albert YW Chan
Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Laichikok, Kowloon, Hong Kong
 
 
Central core myopathy is a rare, inherited neuromuscular disorder with a wide spectrum of phenotypic presentations. It is also considered an allelic disease of malignant hyperthermia. We report a case of central core myopathy in a Chinese adolescent boy presenting with atypical clinical features and a moderately elevated serum creatine kinase level. The diagnosis was made from the histopathological findings of central cores on muscle biopsy, and confirmed by the molecular genetic testing for the RYR1 gene mutation. This is the first case of central core myopathy confirmed by molecular study in our locality.
 
Key words: Malignant hyperthermia; Mutation, missense; Myopathy, central core; Myopathies, structural, congenital; Ryanodine receptor calcium release channel
 
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A rare combination of recurrent pneumonia, diarrhoea, and visual loss in a patient after thymectomy: Good syndrome

ABSTRACT

Hong Kong Med J 2010;16:493-6 | Number 6, December 2010
CASE REPORT
A rare combination of recurrent pneumonia, diarrhoea, and visual loss in a patient after thymectomy: Good syndrome
Jasperine KY Ho, Maureen ML Wong, Thomas KF Tai, Doris MW Tse
Department of Medicine, Caritas Medical Centre, Shamshuipo, Kowloon, Hong Kong
 
 
This report describes a 68-year-old Chinese man who was diagnosed with Good syndrome 6 years after initial presentation when he underwent thymectomy. He presented with recurrent pneumonia, diarrhoea, weight loss, and visual symptoms. Extensive examination for anaemia and neutropenia was done, yet no conclusive diagnosis could be derived. During his last admission for pneumonia, his history of AB thymoma suggested the possibility of Good syndrome. Immunological testing revealed low T cells, absent B cells, and low immunoglobulin M and immunoglobulin G levels. Moreover, he had histologically identified cytomegalovirus pneumonia, cytomegalovirus colitis, and fundoscopic features of cytomegalovirus retinitis. He was treated with a 2-week course of intravenous ganciclovir, lifelong oral valganciclovir, and monthly immunoglobulin infusion. It took 6 years for the diagnosis to be established, therefore, early attention and vigorous search for such potentially treatable conditions in post-thymectomy patients presenting with recurrent infections is recommended.
 
Key words: Agammaglobulinemia; Cytomegalovirus retinitis; Immunoglobulins, intravenous; Thymoma; Thymus neoplasms
 
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