Stephen Connor

Congenital midline cleft of the posterior arch of atlas: a rare cause of symptomatic cervical canal stenosis.

Abstract. Developmental symptomatic C1 canal stenosis is very rare. We describe the computed tomography (CT) and magnetic resonance imaging (MRI) appearances in a 8-year-old child who presented with progressive upper and lower limb neurological symptoms and in whom imaging revealed the medial posterior hemiarches of a bifid C1 to be inturned and compressing the cervical cord. This particular configuration of the posterior arch of atlas is frequently associated with other craniocervical bony anomalies and presents with neurological symptoms early in life. Early CT or MRI examination of patients with symptomatic posterior arch of C1 defects is necessary, in order to detect such an appearance, since surgical treatment may prevent neurological deterioration.

Recurrence of non-Hodgkin's lymphoma isolated to the right masticator and left psoas muscles.

Abstract. We present the clinical and magnetic resonance imaging findings of a patient who, following treatment for pancreatic non-Hodgkins lymphoma (NHL), relapsed with apparently isolated involvement of the right masticator space and left psoas muscles. Non-Hodgkins lymphoma arising from the masticator space muscles is very rare. In addition, simultaneous lymphomatous involvement of multiple discrete skeletal muscle sites, in the absence of disease elsewhere, has previously only been reported in the limb or limb girdle muscles. Lymphoma should be considered as a cause of isolated enlarged skeletal muscles, even when involving such distant sites.

Imaging of head and neck venous malformations

Venous malformations (VMs) are non proliferative lesions that consist of dysplastic venous channels. The aim of imaging is to characterise the lesion and define its anatomic extent. We will describe the plain film, ultrasound (US) (including colour and duplex Doppler), computed tomography (CT), magnetic resonance imaging (MRI), conventional angiographic and direct phlebographic appearances of venous malformations. They will be illustrated at a number of head and neck locations, including orbit, oral cavity, superficial and deep facial space, supraglottic and intramuscular. An understanding of the classification of such vascular anomalies is required to define the correct therapeutic procedure to employ. Image-guided sclerotherapy alone or in combination with surgery is now the first line treatment option in many cases of head and neck venous malformations, so the radiologist is now an integral part of the multidisciplinary management team.

Adult onset leukodystrophy with neuroaxonal spheroids and demyelinating plaque-like lesions

Adult onset leukodystrophy with neuroaxonal spheroids is an uncommon cause of dementia. Both hereditary (autosomal dominant) and sporadic cases have been described. A 41‐year‐old African woman presented with inappropriate behavior and personality change consistent with frontal lobe dysfunction. MRI demonstrated diffuse frontoparietal white matter signal abnormality and volume loss, as well as focal enhancing white matter lesions, while CT scan showed white matter calcifications. She had been gradually deteriorating over the last 5 years, diagnosed as having progressive demyelinating illness. She died of recurrent chest infections. There was no familial history. The brain showed prominent symmetrical white matter changes with greyish discolorization mainly affecting the frontal and parietal lobes, with less involvement of the temporal lobe and only mildly affecting the occipital white matter. Histology revealed deep white matter atrophy with many neuroaxonal spheroids labelled by neurofilament and β‐amyloid precursor protein. In addition, scattered inactive demyelinating plaque‐like lesions were found in the periventricular areas, brainstem and the cervical spinal cord. This case had typical features of an adult onset leukodystrophy with neuroaxonal spheroids. However, we also demonstrated demyelinating plaque‐like lesions, which has not been previously described. The possibility of a demyelinating origin contributing to the changes may be considered in the pathogenesis of this condition.

Molybdenum cofactor deficiency presenting with a parkinsonism-dystonia syndrome.

Published online 22 February 2013 in Wiley Online Library (wileyonlinelibrary.com). DOI: 10.1002/mds.25276 100 cases have been reported but few with late presentation. We present a patient who was diagnosed with MoCD when she was neurologically asymptomatic at 6 years old during a family screening after her younger sister was identified with MoCD. Her sister’s details were previously published. Our patient subsequently presented neurologically age 23 years with progressive parkinsonism and dystonia. We document her neurological presentation, progressive MRI abnormalities, and associated lens dislocations. Molybdenum cofactor (MoCo) is synthesized by complex pathways involving 4 genes (MOCS1, MOCS2, MOCS3, and GPHN). More than 60 mutations have been identified; these mutations result in loss of MoCo-dependent enzyme activity. Molecular testing in our family confirmed MoCo type B, (compound heterozygous MOCS2 mutations (7 exons, long [q] arm chromosome 5; c.564G>C and c.726727 delAA). c.726-727delAA is the most common mutation in MOCS2. Its prevalence in European port cities raises the possibility of distribution by a merchant sailor.

Haemorrhagic acute disseminated encephalomyelitis: an unusual case of blindness in an HIV-infected patient.

Acute disseminated encephalomyelitis (ADEM) is a monophasic, polysymptomatic, immune-mediated demyelinating disorder involving central nervous system (CNS) white matter. It is usually seen in association with exanthematous viral illnesses, systemic infections or vaccinations. The haemorrhagic form of ADEM is rarer and follows a more fulminant course. We describe a case of haemorrhagic ADEM in an HIV-infected patient presenting solely with acute onset bilateral blindness and normal retina. ADEM was diagnosed from clinical, laboratory and radiological findings. Although ADEM has been seen with HIV seroconversion illness and in chronic infection, the haemorrhagic form has never been reported in association with HIV. Acute onset blindness is extremely rare in HIV-positive patients. A Medline search revealed very few reports. The importance of considering haemorrhagic ADEM as aetiology of blindness in such a scenario is discussed.