Imaging of nail-patella syndrome

ABSTRACT

Hong Kong Med J 2005;11:116-8 | Number 2, April 2005
CASE REPORT
Imaging of nail-patella syndrome
N Tuncbilek, HM Karakas, OO Okten
Department of Radiology, Trakya University Medical Faculty, Edirne, Turkey
 
 
Nail-patella syndrome is a rare disorder, which is inherited as an autosomal dominant trait. This condition is also known as hereditary osteo-onychodysplasia or Fong’s syndrome. Posterior iliac horns are commonly found in this syndrome and are considered pathognomonic. In this report, we describe the appearance, location, and structure of iliac horns with respect to radiography and magnetic resonance imaging.
 
Key words: Magnetic resonance imaging; Nail-patella syndrome; Radiography
 
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Cervical meningocele with tethered cervical cord in a Chinese infant

ABSTRACT

Hong Kong Med J 2005;11:113-5 | Number 2, April 2005
CASE REPORT
Cervical meningocele with tethered cervical cord in a Chinese infant
JHM Wong, GKC Wong, XL Zhu, YL Chan, E Fung, WS Poon
Division of Neurosurgery, Department of Surgery, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong
 
 
Cervical meningocele and myelomeningocele are rare spinal dysraphic lesions. Unlike lumbosacral dysraphic lesions, there is often no neurological deficit in infants with cervical lesions, thus the subtle features of cervical cord tethering may be overlooked on imaging. We report a case of cervical meningocele in an 8-month-old girl. The tethering band, confirmed intra-operatively, was not evident on imaging. Untethering of the cord was performed together with resection of the sac and repair of the dura. Tethered cord should be suspected in the presence of cervical meningocele and intact neurology. It should be carefully looked for using high-resolution magnetic resonance imaging or computed tomography. Treatment aims to prevent future neurological deterioration, and should include careful intradural exploration with untethering of the cord.
 
Key words: Meningocele; Meningomyelocele; Neck; Neural tube defects; Spinal dysraphism
 
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Unilateral epistaxis after swimming in a stream

ABSTRACT

Hong Kong Med J 2005;11:110-2 | Number 2, April 2005
CASE REPORT
Unilateral epistaxis after swimming in a stream
CK Chow, SSY Wong, ACW Ho, SKP Lau
Division of Otorhinolaryngology, Department of Surgery, University of Hong Kong, Queen Mary Hospital, Pokfulam Road, Hong Kong
 
 
A 55-year-old Chinese woman presented with a 3-week history of unilateral left-sided epistaxis and nasal obstruction. She had swum in a freshwater stream 1 month prior to the onset of symptoms. Endoscopic examination revealed a live leech at the left middle meatus with a large part of its body inside the left maxillary antrum. Local anaesthetic was applied to anaesthetise the leech and facilitate removal. Magnetic resonance imaging performed following removal confirmed that no other leeches were present in the sinonasal area. The endoparasitism might have persisted because of the inconspicuous site of infestation and the absence of pain. This form of leech infestation has not been previously reported.
 
Key words: Epistaxis; Foreign bodies; Leeches; Parasitic diseases; Rivers
 
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Resection of phaeochromocytoma extending into the right atrium in a patient with multiple endocrine neoplasia type 2A

ABSTRACT

Hong Kong Med J 2005;11:59-62 | Number 1, February 2005
CASE REPORT
Resection of phaeochromocytoma extending into the right atrium in a patient with multiple endocrine neoplasia type 2A
CF Ku, CY Lo, WF Chan, SW Chiu, ST Fan, KSL Lam
Department of Surgery, University of Hong Kong, Queen Mary Hospital, Pokfulam Road, Hong Kong
 
 
We report the first case of successful surgical resection of a malignant phaeochromocytoma with tumour extension into vena cava and right atrium in a patient with multiple endocrine neoplasia type 2A. A 21-year-old woman with genetic confirmation of multiple endocrine neoplasia type 2A syndrome was diagnosed with a very rare case of malignant phaeochromocytoma with tumour thrombus extension into vena cava and right atrium causing Budd-Chiari syndrome. It posed a challenge to the surgeons with regard to complete tumour resection and vascular control. Reviewing the limited literature, surgical resection by means of cardiopulmonary bypass with hypothermic circulatory arrest has been reported with success in phaeochromocytoma with advance vascular involvement. Adopting this approach, adrenalectomy with complete thrombus excision by inferior vena cava exploration and right atriotomy were performed successfully by a multidisciplinary team.
 
Key words: Cardiopulmonary bypass; Hypothermia, induced; Multiple endocrine neoplasia type 2a; Pheochromocytoma; Vena cava, inferior
 
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Chloroquine-induced bull’s eye maculopathy

ABSTRACT

Hong Kong Med J 2005;11:55-7 | Number 1, February 2005
CASE REPORT
Chloroquine-induced bull’s eye maculopathy
WW Lai, DSC Lam
Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong
 
 
We report the case of a 51-year-old woman who presented with bilateral progressive deterioration in vision after taking chloroquine for severe rheumatoid arthritis for 10 years. She was found to have a bull’s eye pattern of depigmentation in the macula of both eyes. Despite cessation of chloroquine, her vision did not improve. The clinical presentation of chloroquine retinopathy is discussed, along with the importance of scheduled eye examination for individuals taking chloroquine or hydroxychloroquine.
 
Key words: Arthritis, rheumatoid; Chloroquine; Macula lutea; Retinal diseases
 
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Renal tubular acidosis and severe hypophosphataemia due to toluene inhalation

ABSTRACT

Hong Kong Med J 2005;11:50-3 | Number 1, February 2005
CASE REPORT
Renal tubular acidosis and severe hypophosphataemia due to toluene inhalation
HL Tang, KH Chu, A Cheuk, WK Tsang, HWH Chan, KL Tong
Division of Nephrology, Department of Medicine and Geriatrics, Princess Margaret Hospital, Laichikok, Kowloon, Hong Kong
 
 
A 21-year-old woman developed severe muscle paralysis after sniffing toluene-containing thinner solution for 2 weeks. Her serum chemistries revealed severe hypokalaemia and a normal anion gap hyperchloraemic metabolic acidosis secondary to renal tubular acidosis. Her initial presentation mimicked hypokalaemic periodic paralysis, but toxicology screening of her blood and urine revealed the correct diagnosis of toluene poisoning. Her electrolyte and acid-base status returned to normal 4 days after cessation of toluene sniffing. On another occasion, apart from renal tubular acidosis, the patient also developed severe hypophosphataemia with the phosphate level decreasing to 0.15 mmol/L. Hypophosphataemia with such a low phosphate level after toluene poisoning has been rarely reported in the literature. Toluene inhalation can result in multiple electrolyte and acid-base abnormalities, and should be considered in the diagnosis of any young patient who presents with unexplained hypokalaemia and normal anion gap metabolic acidosis.
 
Key words: Acidosis, renal tubular; Hypokalemia; Hypophosphatemia; Toluene
 
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Acute renal failure related to intravenous immunoglobulin infusion in an elderly woman

ABSTRACT

Hong Kong Med J 2005;11:45-9 | Number 1, February 2005
CASE REPORT
Acute renal failure related to intravenous immunoglobulin infusion in an elderly woman
TH Kwan, MKH Tong, YP Siu, KT Leung, HK Lee, CY Yung, TC Au
Division of Nephrology, Department of Medicine and Geriatrics, Tuen Mun Hospital, Tuen Mun, Hong Kong
 
 
Intravenous immunoglobulin infusion induces acute renal failure via a mechanism of osmotic nephrosis. Most reported cases are related to the use of sucrose-based intravenous immunoglobulin. Maltose-based intravenous immunoglobulin is thought to be a safer alternative and have a lower risk of renal toxicity than sucrose-based preparations. Maltase, but not sucrase, is present in the brush border of proximal convoluted renal tubules, where the maltose is metabolised. We report a case of maltose-based intravenous immunoglobulin–induced acute renal failure in an elderly diabetic woman. In this case, the risk factors included advanced age, hypovolaemia, sepsis, diabetes mellitus, and the high infusion rate of the intravenous immunoglobulin. Maltase is readily inhibited by hyperglycaemia; therefore, poor glycaemic control may predispose patients to develop acute renal failure even with the better-tolerated maltose-based intravenous immunoglobulin.
 
Key words: Immunoglobulins, intravenous; Kidney failure, acute; Maltose; Sucrose
 
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Delayed neuropsychiatric impairment after carbon monoxide poisoning from burning charcoal

ABSTRACT

Hong Kong Med J 2004;10:428-31 | Number 6, December 2004
CASE REPORT
Delayed neuropsychiatric impairment after carbon monoxide poisoning from burning charcoal
SP Lam, SYY Fong, A Kwok, T Wong, YK Wing
Department of Psychiatry, The Chinese University of Hong Kong, Shatin Hospital, Shatin, Hong Kong
 
 
Poisoning by carbon monoxide from burning charcoal has become one of the popular and lethal ways of attempting suicide in Hong Kong. Survivors of the carbon monoxide poisoning often face acute and delayed adverse problems in both their physical and mental health. We report two cases of delayed onset neuropsychiatric complications caused by carbon monoxide poisoning from burning charcoal. These symptoms were characterised by a latent period, followed by an abrupt and profound deterioration in the neurocognitive function with a seemingly reversible course. The literature is reviewed regarding the aetiology, pathophysiology, and management of this condition. Regular monitoring of their neurocognitive function and forewarning of this potential complication to the survivors of carbon monoxide poisoning and their families should be essential.
 
Key words: Carbon monoxide poisoning; Nervous system diseases
 
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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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