Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients

ABSTRACT

Hong Kong Med J 2011;17:500-2 | Number 6, December 2011
CASE REPORT
Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients
Chloe M Mak, KY Chan, Eric KC Yau, Sammy PL Chen, WK Siu, CY Law, CW Lam, Albert YW Chan
Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Laichikok, Hong Kong
 
 
Epilepsy is a clinically and genetically heterogeneous group of disorders. The advent of molecular genetics brings unprecedented advancement in diagnostic molecular pathology and reduces over-reliance on traditional clinical classification. Severe myoclonic epilepsy of infancy or Dravet syndrome is a catastrophic infantile-onset epilepsy. We report two unrelated Hong Kong Chinese patients with this condition presenting with febrile seizures, epilepsy with different semiologies, psychomotor retardation, and recurrent status epilepticus. Two different mutations were characterised, viz NM_001165963.1: c.680T>G; NP_001159435.1: p.I227S and NM_001165963.1: c.3953T>G; NP_001159435.1: p.L1318R (novel). Genetic characterisation conveys a definitive diagnosis and is important from the perspective of selecting anti-epileptic drug therapy and genetic counselling.
 
Key words: Epilepsies, myoclonic; DNA mutational analysis; Mutation; Nerve tissue proteins; Seizures, febrile
 
View this abstract indexed in MEDLINE:
 

Disseminated amyloidosis presenting with right proximal femur pathological fracture in a haemodialysis end-stage renal failure patient

ABSTRACT

Hong Kong Med J 2011;17:495-9 | Number 6, December 2011
CASE REPORT
Disseminated amyloidosis presenting with right proximal femur pathological fracture in a haemodialysis end-stage renal failure patient
Alexander PH Chan, Tom CY Cheung, SY Cheung, Eric PY Ho, Jason CH Fan, K Wang, KY Fung
Department of Orthopaedics and Traumatology, Alice Ho Miu Ling Nethersole Hospital, Tai Po, Hong Kong
 
 
Osteoarticular amyloidosis can be one of the musculoskeletal system manifestations related to dialysis. We share our experience in dealing with a case of disseminated haemodialysis-associated amyloidosis in a 74-year-old end-stage renal failure patient. This patient suffered from a serious complication, namely an unprovoked pathological fracture at the basal neck region of the right femur. Polyarticular cystic and lytic lesions over the contralateral proximal femur, bilateral proximal humerus and the right lunate were noted on further imaging. In view of extensive amyloidotic infiltration into the proximal femur as well as the acetabulum, a cemented total hip arthroplasty operation was performed for pain relief and restoration of function. The radiological investigations, diagnostic challenges, operative as well as histopathological findings are discussed. This disease should be considered in the differential diagnosis of pathological juxta-articular fracture in patients undergoing haemodialysis.
 
Key words: Arthroplasty, replacement; Amyloidosis; Hip fractures; Kidney failure, chronic; Renal dialysis
 
View this abstract indexed in MEDLINE:
 

An unusual cause of retention of urine after intravesical Bacillus Calmette-Guérin therapy for superficial bladder cancer

ABSTRACT

Hong Kong Med J 2011;17:492-4 | Number 6, December 2011
CASE REPORT
An unusual cause of retention of urine after intravesical Bacillus Calmette-Guérin therapy for superficial bladder cancer
Jackie MK Cheung, Simon SM Hou, Sidney KH Yip, CF Ng
Division of Urology, Department of Surgery, Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, Hong Kong
 
 
We report an unusual complication of intravesical Bacillus Calmette-Guérin therapy for superficial bladder cancer, namely, retention of urine secondary to prostatic Bacillus Calmette-Guérin infection and abscess. A summary of the literature together with a review of its management is discussed.
 
Key words: Administration, intravesical; BCG vaccine; Prostatic diseases; Urinary bladder neoplasms
 
View this abstract indexed in MEDLINE:
 

Sacrococcygeal teratoma in adults: case report and literature review

ABSTRACT

Hong Kong Med J 2011;17:417-20 | Number 5, October 2011
CASE REPORT
Sacrococcygeal teratoma in adults: case report and literature review
Shiobhon Y Luk, YP Tsang, TS Chan, TF Lee, KC Leung
Department of Radiology, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong
 
 
Sacrococcygeal teratoma is one of the most common tumours in infants but rare in adults. We present a case of sacrococcygeal teratoma in a female adult. The clinical presentation, radiological and histological findings, management, and outcome are described.
 
Key words: Adenocarcinoma; Sacrococcygeal region; Teratoma
 
View this abstract indexed in MEDLINE:
 

Calcific tendinitis of the supraspinatus tendon in a 7-year-old boy: diagnostic challenges

ABSTRACT

Hong Kong Med J 2011;17:414-6 | Number 5, October 2011
CASE REPORT
Calcific tendinitis of the supraspinatus tendon in a 7-year-old boy: diagnostic challenges
CM Fong
Division of Paediatric Orthopaedics, Department of Orthopaedics and Traumatology, United Christian Hospital, Kwun Tong, Hong Kong
 
 
This report is of a case of acute calcific tendinitis of supraspinatus tendon in a 7-year-old boy who presented to the hospital with an acute painful shoulder after a fall. Initial radiographs mimicked fracture of the greater tuberosity of the humerus. Subsequent investigation confirmed that the appearance was due to a calcific tendinitis. The patient recovered shortly afterwards with complete resolution of the calcific lesion.
 
Key words: Calcinosis; Shoulder joint; Tendinopathy
 
View this abstract indexed in MEDLINE:
 

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
 
View this abstract indexed in MEDLINE:
 

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
 
View this abstract indexed in MEDLINE:
 

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
 
View this abstract indexed in MEDLINE:
 

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
 
View this abstract indexed in MEDLINE:
 

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
 
View this abstract indexed in MEDLINE:
 

Pages