Abnormalities of the craniovertebral junction in the paediatric population: a novel biomechanical approach.

The craniovertebral junction (CVJ) is the bony transition between the cranium and cervical spine. It is a biomechanically complex articulation comprising the occipital condyles (Oc) the atlas (C1) and axis (C2). Pathologies affecting the CVJ in children are myriad with clinical features resulting from biomechanical instability, deformity, or neuraxial compression. Establishing the natural history and clinical burden of a condition is challenging in infants and young children, often complicated by co-existing neuromuscular and cognitive impairment. This makes investigation and treatment planning difficult. Each disease entity has a predilection for a particular biomechanical abnormality. Investigation using dynamic imaging is most appropriate in instability, computed tomography examination in abnormalities of deformity and magnetic resonance imaging examination in neuraxial compression. Treatment comprises reduction and immobilisation of instability, re-alignment of deformity, or decompression of the neuraxis. We present a review of disease entities affecting the CVJ in children categorised according to a simple mechanistic approach to aid investigation and treatment planning.

Melanotic neuroectodermal tumour of infancy: A case report and differential diagnosis.

Melanotic neuroectodermal tumour of infancy is an uncommon pigmented neoplasm of neural crest origin. It was first described in 1918 by Krompecher, known as congenital melanocarcinoma at that time. Although it is generally agreed upon that it is a benign entity, it is locally aggressive and has a significant recurrent risk, reported to be between 10-15%. There have also been prior reports of malignant behaviour in these tumours, although extremely rare. The majority of cases of this tumour (about 70%) arise from the maxilla and its occurrence in the cranial vault represents approximately 15.6% of cases. We describe a rare case of melanotic neuroectodermal tumour of infancy, with simultaneous involvement of the cranial vault and petrous temporal bone, in a four-month-old child, complicated by post-surgical pseudo-meningocele. This case illustrates the diagnostic dilemma in differentiating reactive osseous sclerosis from direct tumour infiltration, both of which can occur in the context of melanotic neuroectodermal tumour of infancy. The discussion places emphasis on differential diagnoses and useful radiological features to assist in clinching the diagnosis of melanotic neuroectodermal tumour of infancy.

A rare case of paediatric meningioma masquerading as intra-axial lesion.

Meningiomas are neoplasm arising from meningoepithelial cells, most commonly in the fifth to sixth decade of life. Meningiomas are rare in paediatric population, accounting for 0.4-4.1% of all paediatric tumours and less than 3% of paediatric brain tumours. However, meningiomas represent the most common dural based tumours in children. We describe a rare case of paediatric fibroblastic meningioma within the left middle cranial fossa masquerading as an intra-axial mass lesion. Our discussion will be centred on atypical features of paediatric meningiomas and differential diagnosis of extra-axial mass lesion in the paediatric population.

Degenerated Retained Product of Conception Misdiagnosed as Invasive Trophoblastic Disease.

Retained products of conception (POC) complicates nearly 1% of all pregnancies, occurring with greater frequency after termination of pregnancy than after vaginal or caesarean delivery. The presenting symptoms of retained products of conception are similar to those of gestational trophoblastic disease and hence accurate differentiation is difficult based on clinical history and physical examination alone. The distinction between these two entities is extremely important as the treatment differs dramatically. These patients often need to be further evaluated with either ultrasound, computed tomography (CT) or magnetic resonance imaging (MRI) of the pelvis. Hence, radiologists play a vital role in clinching the diagnosis although at times it may be challenging to differentiate between these two entities. Herein, we discuss a case of degenerated retained products of conception which was initially misdiagnosed as invasive trophoblastic disease in a 41-year-old woman whom last known pregnancy was 10 years ago.

Down syndrome: multimodality imaging of associated congenital anomalies and acquired diseases.

Down syndrome (Trisomy 21) is the most common chromosomal abnormality among liveborn infants. It is the most frequent form of intellectual disability caused by a microscopically demonstrable chromosomal aberration. Management requires a multidisciplinary approach to the ongoing evaluation and monitoring for associated congenital anomalies and acquired disorders.Trisomy 21 is characterized by a variety of dysmorphic features, congenital anomalies and associated medical conditions. Knowledge of these associated conditions are important for clinicians involved in the management of these patients. Appropriate radiologic imaging with prompt, accurate interpretation plays an important role in the diagnosis and management of these diseases. The primary goal of this pictorial review is to unravel the radiological findings of these associated conditions.

Tendon xanthoma in familial hypercholesterolemia--a clinical and ultrasonographic study.

Familial hypercholesterolemia is a common autosomal dominant condition characterised by increased low density lipoprotein cholesterol, tendon xanthomas and premature atherosclerosis. Ultrasonography is the diagnostic tool of choice for the detection of tendon xanthomas in the Achilles tendon, demonstrated by the presence of hypoechoeic nodules or an increase in the antero-posterior diameter. It can also be used in screening and clinical follow-up of patients with familial hypercholesterolemia.

Musculoskeletal melioidosis: clinical and imaging features.

OBJECTIVE: Melioidosis is a tropical infection caused by a gram-negative bacillus, Pseudomonas pseudomallei. The disease manifests initially as localized suppurative lesions and can progress to acute disseminated septicemia with 65-90% mortality if inadequately treated. Musculoskeletal involvement is common. The purpose of this study was to describe the clinical features and imaging appearances of musculoskeletal melioidosis. DESIGN: We retrospectively analyzed the clinical profiles and images of 26 patients diagnosed over a 6-year period as suffering from melioidosis. PATIENTS: The study group comprised 11 patients with musculoskeletal melioidosis and 15 patients with nonmusculoskeletal melioidosis. RESULTS AND CONCLUSIONS: We found that musculoskeletal melioidosis mimicks other infections both clinically and radiologically. Clinical awareness is therefore crucial, as diagnosis can only be established by bacteriological and immunological studies. Prompt treatment with long-term combination antibiotics in high dosages and surgical drainage of abscesses improves survival.

Imaging patterns in melioidosis.

Melioidosis is an infectious disease caused by Pseudomonas pseudomallei. It is seldom diagnosed promptly and, if untreated, can lead to an 80-100% mortality rate. Twenty-eight patients with melioidosis were identified over a 6 year period, and their imaging patterns were analysed. Respiratory infections were the commonest form of presentation, frequently shown as diffuse airspace consolidation, and accounted for the highest mortality. Visceral and musculoskeletal infections were associated with chronicity and a high relapse rate. Multifocal splenic abscesses were a common occurrence. Septic arthritis of the knee was frequently seen. The majority of patients had diabetes mellitus and chronic ill-health. An increased awareness of the disease can contribute to its early detection and appropriate treatment.