Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum

Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation disorder. Cardiac defects are observed in about 50% of EvC cases. Surgical data is lacking on the prognosis and life expectancy of EvC patients. Herein, we report the case of a 38-year-old man with EvC syndrome who underwent two surgical corrections for cardiac anomalies. This report supplements the available information on the clinical course of EvC syndrome in older patients.     

Tubular duplication of the oesophagus presenting with dysphagia

Duplications of the alimentary tract are rare congenital malformations, with the ileum being the most commonly affected site, followed by the oesophagus. Among oesophageal duplications, cystic duplication is the most common and the tubular variety, the rarest. Herein, we report a rare case of tubular oesophageal duplication, complicated by adenosquamous carcinoma at the lower end of the oesophagus, in a 32-year-old man who presented with progressive dysphagia. Although proton pump inhibitors may relieve dysphagia, oesophagectomy and gastric interpositioning should be the first-line treatment for patients with tubular oesophageal duplication, in order to reduce the risk of malignant transformation at the lower end of the oesophagus.     

An unusual presentation of atrial myxoma

Myxomas are uncommon primary cardiac tumours that usually affect the left atrium. We herein report the case of a patient who presented with right heart failure and proteinuria, leading to the diagnosis of atrial myxoma. Surgical resection resulted in resolution of the patient’s symptoms.     

An unusual presentation of recurrent uterine rupture during pregnancy

We describe a case of recurrent uterine rupture at the site of a previous rupture. Our patient had a history of right interstitial pregnancy with spontaneous uterine fundal rupture at 18 weeks of pregnancy. During her subsequent pregnancy, she was monitored closely by a senior consultant obstetrician. The patient presented at 34 weeks with right hypochondriac pain. She was clinically stable and fetal monitoring showed no signs of fetal distress. Ultrasonography revealed protrusion of the intact amniotic membranes in the abdominal cavity at the uterine fundus. Uterine rupture is a rare but hazardous obstetric complication. High levels of caution should be exercised in patients with a history of prior uterine rupture, as they may present with atypical symptoms. Ultrasonography could provide valuable information in such cases where there is an elevated risk of uterine rupture at the previous rupture site.     

An unusual presentation of primary malignant B-cell-type dural lymphoma

Primary malignant B-cell-type dural lymphoma is a rare subtype of primary central nervous system lymphoma (PCNSL). We herein report an unusual case of diffuse B-cell lymphoma that presents as a chronic subdural haematoma without extracranial involvement. The notable aspects of this case include the patient’s immunocompetence, a short clinical history of symptom onset, rapid neurological deterioration and a final diagnosis of high-grade PCNSL. This case highlights the challenges neurosurgeons face, especially in the emergency setting, when the disease manifests in varied presentations.     

An unusual cause of haemorrhagic shock from a subcutaneous haematoma: a Morel-Lavallée lesion

A 20-year-old man presented to our emergency department after he was hit by a forklift. He developed haemorrhagic shock from a subcutaneous haematoma in his left thigh and required monitoring in the surgical intensive care unit. He stabilised with aggressive fluid resuscitation with crystalloids and blood transfusion. The recovery was complicated by an infection of the subcutaneous haematoma. Following open drainage of the infected subcutaneous haematoma, he improved and was discharged. To the best of our knowledge, this is the first reported case of a subcutaneous haematoma causing haemorrhagic shock.     

Melorheostosis of the hand affecting the c6 sclerotome and presenting with carpal tunnel syndrome

Melorheostosis is a rare, progressive bone disease accompanied by hyperostosis and soft tissue fibrosis. While affected adults present with contracture and pain, children present with limb length discrepancy and deformity. We report the case of a 20-year-old woman with melorheostosis since childhood who presented with right hand deformity and numbness. Radiographs showed not only a combination of dense sclerosis and opacities, but also the classic ‘flowing candle wax’ appearance. Radiography can be used to identify melorheostosis, thus preventing unnecessary bone biopsies. Carpal tunnel release revealed the presence of a thickened flexor retinaculum and a degenerated median nerve distal to the retinaculum, but did not show hyperostosis. This case highlights the role of nerve decompression in melorheostosis and the importance of early identification of the disease to prevent unnecessary bone biopsies.     

Clinical characteristics and treatment outcomes of patients with Brugada syndrome in northeastern Thailand

INTRODUCTION

Brugada syndrome (BrS) is a common genetic cause of sudden cardiac arrest (SCA) due to polymorphic ventricular tachycardia and ventricular fibrillation. The current recommended therapy for high-risk BrS patients is the use of an implantable cardioverter defibrillator (ICD). The present study aimed to report the clinical characteristics and treatment outcomes of BrS patients in northeastern Thailand.

METHODS

Patients who were diagnosed with BrS or had a Brugada electrocardiogram (ECG) between 2005 and 2012 at Khon Kaen University’s hospitals were enrolled in the present study. Patients’ clinical characteristics, ECG type, laboratory results and treatment were reviewed.

RESULTS

A total of 90 eligible patients were enrolled. Of these, 79 (87.8%) patients were symptomatic – 65 (82.3%) had documented SCA and 14 (17.7%) had unexplained syncope. The remaining 11 (12.2%) patients were asymptomatic with Brugada ECG. A majority of the patients enrolled were born in northeastern Thailand. The mean age of the symptomatic patients was 44.49 ± 8.55 years. Among the symptomatic patients, a majority were male (n = 77, 97.5%) and 23 (29.1%) patients had a family history of SCA. Almost all BrS patients who were symptomatic (96.2%) received ICD treatment for secondary prevention. The number of patients who received appropriate ICD therapy was 4.2 times of those who received inappropriate shocks. Only 3 (3.8%) symptomatic BrS patients refused ICD treatment.

CONCLUSION

Clinical characteristics did not distinguish between symptomatic BrS patients and asymptomatic patients with Brugada ECGs. The clinical characteristics and treatment outcomes for the symptomatic BrS patients with SCA and unexplained syncope were similar. Among the BrS patients implanted with secondary prevention ICD in Northeastern Thailand, nearly one-third had received appropriate ICD therapy, far exceeding the incidence of device-related complications and inappropriate therapy.     

Imaging of acute cholecystitis and cholecystitis-associated complications in the emergency setting

Acute cholecystitis is a common cause of right upper quadrant pain in patients presenting at the emergency department. Early diagnosis and recognition of associated complications, though challenging, are essential for timely management. Imaging studies, including ultrasonography, computed tomography and magnetic resonance imaging, are increasingly utilised for the evaluation of suspected cases of cholecystitis. These investigations help in diagnosis, identification of complications and surgical planning. Imaging features of acute cholecystitis have been described in the literature and are variable, depending on the stage of inflammation. This article discusses the spectrum of cholecystitis-associated complications and their imaging manifestations. We also suggest a checklist for the prompt and accurate identification of complications in acute cholecystitis.     

Achalasia and Down syndrome: a unique association not to be missed

Achalasia is a rare primary oesophageal motility disorder that presents as a functional obstruction at the oesophago-gastric junction. The prevalence of achalasia in Down syndrome is much higher, which implies a unique association between these two uncommon conditions. Although the exact aetiology of achalasia is unknown, studies have proposed that its pathogenesis is related to autoimmune, infectious or genetic factors, leading to the intrinsic loss of inhibitory myenteric neurons in both the oesophagus and lower oesophageal sphincter. We herein report the case of a 16-month-old girl with Down syndrome and achalasia who was initially treated for gastro-oesophageal reflux disease. The diagnosis of achalasia was made only when her condition deteriorated, with subsequent failure to thrive, and upon further investigations, including barium swallow study and upper endoscopy. We also review the various mechanisms postulated in the development of achalasia in Down syndrome, as well as the various treatment modalities available for this rare disorder.     

First transcatheter aortic valve implantation for severe pure aortic regurgitation in Asia

Transcatheter aortic valve implantation (TAVI) has become the standard of care for inoperable patients with symptomatic severe aortic stenosis (AS), and an alternative to open aortic valve replacement for patients at high surgical risk. TAVI has also been performed in several groups of patients with off-label indications such as severe bicuspid AS, and as a valve-in-valve therapy for a degenerated surgical bioprosthesis. Although TAVI with CoreValve® prosthesis is technically challenging, and global experience in the procedure is limited, the procedure could be a treatment option for well-selected patients with severe pure aortic regurgitation (AR). Herein, we report Asia''s first case of TAVI for severe pure AR in a patient who was at extreme surgical risk, with good clinical outcome at six months.     

Hypereosinophilic syndrome with large intracardiac thrombus

As the nonspecific clinical presentation of hypereosinophilic syndrome (HES) may mimic many multisystemic diseases, it often presents as a diagnostic challenge. Herein, we report the case of a 60-year-old man who presented with progressive heart failure symptoms and eosinophilia. Despite extensive diagnostic evaluation, no underlying cause was found. Transthoracic echocardiography revealed a large left ventricular thrombus, which is suggestive of hypereosinophilic cardiac involvement. The patient was started on steroids and responded clinically and haematologically.     

Recurrent and persistent pityriasis rosea: an atypical case presentation

We report a case of atypical pityriasis rosea in a 24-year-old Malay man. He presented with an 11-month history of three recurrent and persistent episodes of pityriasis rosea associated with oral ulcers. The first episode lasted for one month and recurred within 14 days. The second episode lasted for three months and recurred within nine days. The third episode lasted for seven months. Although all three episodes were not preceded by any prodromal symptoms, a herald patch was noted on three different sites (the left iliac fossa, abdomen and chest) on each successive episode. Recurrent pityriasis rosea and its association with oral ulcers, although quite uncommon, have been reported in the literature. However, reports of multiple recurrences, with prolonged duration of each episode and very short remissions in between, have not been made. To the best of our knowledge, this is the first report of such unique presentation.     

A tale of two tachycardias

A patient with non-ischaemic cardiomyopathy, and pre-existing atypical atrial flutter and left bundle branch block, developed broad complex tachycardia. In this unique and uncommon case of double tachycardia, we discuss the diagnostic approach of ventricular tachycardia in patients with broad complex tachycardia, and the use of different contemporary algorithms to help diagnose ventricular tachycardia and differentiate it from supraventricular tachycardia with aberrant conduction.     

Myoclonic seizures in a preterm baby: is this a presentation of venlafaxine withdrawal?

Venlafaxine, a serotonin and norepinephrine reuptake inhibitor, is increasingly used in pregnant women with pre-existing depression who require continued treatment. However, its in utero effects on the developing fetus are not clear. Herein, we report the unusual presentation of venlafaxine withdrawal in a female preterm baby of 29 weeks gestation, who presented with myoclonic seizures on her second day of life. The seizures were confirmed using amplitude-integrated electroencephalography, and other possible causes of neonatal seizures were excluded. The baby responded to treatment with phenobarbitone and phenytoin. Magnetic resonance imaging of her brain was unremarkable at corrected gestational age of 39 weeks and 2 days. On follow-up at the corrected age of five months, she was well and developing normally with no further seizures. To the best of our knowledge, this is the first report of seizures in a preterm baby resulting from maternal venlafaxine use.     

Penile cancer: a local case series and literature review

INTRODUCTION

Penile cancer is an uncommon disease affecting only about one in 100,000 men worldwide in a year. The diagnosis of the condition is frequently delayed, and the disease and its treatment frequently result in significant morbidity in patients.

METHODS

We herein describe seven cases of penile tumours: six cases of squamous cell carcinomas and one case of B-cell lymphoma that presented to our hospital’s urology department between March 2011 and October 2012. We reviewed the literature to discuss the clinical presentation, natural history and current management of penile cancer.

RESULTS

The patients were followed up for 1–24 months. They were managed according to their disease stage and lymph node status. Four out of seven patients showed disease progression during the follow-up period.

CONCLUSION

The accurate staging of inguinal nodes in cases of low-risk disease is important to prescribe appropriate surgery for the inguinal nodes. Aggressive management of inguinal and pelvic lymph nodes remains the cornerstone in the treatment of high-risk disease cases.     

Kleptomania: a case series

Kleptomania is an enigmatic condition and is among the very few psychiatric disorders in which crime is medicalised and used as a legal defence. The scientific literature on kleptomania is scarce. Early literature and recent studies have shown a female preponderance, with an early age of onset of stealing in people with comorbid personality disorder(s). In a retrospective review of the case notes of theft offenders who had forensic psychiatric evaluations performed in a one-year period in 2010 at the Institute of Mental Health, Singapore, we found three patients who were diagnosed with kleptomania. In this report, we describe the pertinent clinical and sociodemographic characteristics, as well as the diagnostic issues of kleptomania in relation to the three cases.     

Overlap syndrome between chronic obstructive pulmonary disease and obstructive sleep apnoea in a Southeast Asian teaching hospital

INTRODUCTION

Overlap syndrome between obstructive sleep apnoea (OSA) and chronic obstructive pulmonary disease (COPD) is important but under-recognised. We aimed to determine the prevalence of overlap syndrome and the predictors of OSA in patients with COPD.

METHODS

Patients aged ≥ 40 years were recruited from a dedicated COPD clinic and underwent overnight polysomnography. A diagnosis of OSA was made when apnoea-hypopnoea index (AHI) was ≥ 5.

RESULTS

In all, 22 patients (aged 71 ± 9 years), predominantly men, were recruited. Mean values recorded were predicted forced expiratory volume in the first second percentage 55 ± 15; body mass index 23.7 ± 6.5 kg/m²; Epworth Sleepiness Scale score 5.6 ± 5.8; and AHI 15.8 ± 18.6. Among the 14 patients with OSA (prevalence of overlap syndrome at 63.6%), the mean number of hospital visits for COPD exacerbations in the preceding one year was 0.5 ± 0.7. Patients with overlap syndrome had worse modified Medical Research Council dyspnoea scale scores and a lower percentage of rapid eye movement (REM) sleep than patients without. There were no other statistical differences in lung function or sleep study indices between the two patient groups.

CONCLUSION

The majority of our patients had overlap syndrome and minimal exacerbations, and were not obese or sleepy. Significant differences between patients with and without overlap syndrome were seen in two aspects – the former was more dyspnoeic and had less REM sleep. Our findings suggest that standard clinical predictors cannot be used for patients with overlap syndrome, and therefore, a high index of suspicion is needed.     

Blue rubber bleb nevus syndrome: a rare cause of chronic gastrointestinal bleed in adults

Blue rubber bleb nevus syndrome (BRBNS) is a rare condition characterised by venous malformations in the skin, gastrointestinal tract and other parts of the body. Its presentation is usually sporadic, although cases of autosomal dominant inheritance have been reported. Usually seen in children, BRBNS presentation in adults is rare. Symptoms at presentation depend on the organs involved; patients with BRBNS may present with acute or chronic gastrointestinal bleed. We herein report a rare presentation of BRBNS in an adult who suffered from intermittent abdominal pain and melaena for three years. Contrast-enhanced computed tomography revealed a jejunojejunal intussusception with a vascular malformation as the lead point. The patient underwent laparotomy with resection of the intussuscepted bowel segment. Recovery was uneventful. In spite of a wide range of therapeutic options for the management of BRBNS described in the literature, the efficacy of those available therapies, including surgical excision, is not well established.     

Clinics in diagnostic imaging (156). Golf-induced hamate hook fracture.

The wrist is a common site of injury and the most frequently injured body part among professional golfers. A 37-year-old, right-handed male golfer presented with pain at the ulnar aspect of his left palm, which grew worse after an initial traumatic impact from the golf club handle. There was tenderness over the hypothenar eminence of the left palm. Computed tomography of the left wrist showed an undisplaced fracture through the base of the hamate hook. The golf-induced hamate hook fracture was managed conservatively, with cessation of physical activity involving the left hand and wrist for eight weeks. The patient made a full recovery. Repetitive trauma, exacerbated by improper wrist motion, leads to typical wrist injuries affecting golfers, such as ulnar impaction syndrome, de Quervain’s disease, and tendinopathy affecting the flexor carpi ulnaris and extensor carpi ulnaris, all of which can be diagnosed on imaging.