BACKGROUND The 'hot cross bun' (HCB) sign refers to a cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI). It is commonly associated with atrophy of the pons, cerebellum, and putamen in multiple system atrophy (MSA). In this report, we describe a rare case of the HCB sign in an adult female patient with leptomeningeal metastases of breast cancer...

To cite: Jain RS, Sannegowda RB, Jain R, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2013203447 DESCRIPTION Though uncommon, bilateral middle cerebellar peduncle (MCP) hyperintensities have been reported following pontine infarcts, in Wilson disease (WD) and due to other aetiologies. In WD, the ‘face of the giant panda’ sign, internal capsule hyperinten...

IMPORTANCE Here we report a family with coexistence of multiple system atrophy (MSA) and amyotrophic lateral sclerosis (ALS) with hexanucleotide repeat expansions in C9orf72. OBSERVATIONS A 65-year-old woman had a 2-year history of ataxia with autonomic dysfunction but without motor neuron signs. She was diagnosed as having MSA based on her clinical history and the hot cross bun sign on brain...

Background. MSA (Multiple System Atrophy) may be associated either with Parkinsonism or with cerebellar ataxia (MSA-c subtype). It is considered a rare disease, but many patients are misdiagnosed as suffering from idiopathic Parkinson's disease. In this paper, we report a case of a patient admitted with respiratory failure and vocal cords paralysis due to MSA-c. Case Report. A 79-year-old Cauca...

IMPORTANCE Although mutations in 26 causative genes have been identified in the spinocerebellar ataxias (SCAs), the causative genes in a substantial number of families with SCA remain unidentified. OBJECTIVE To identify the causative gene of SCA in 2 Japanese families with distinct neurological symptoms and radiological presentations. DESIGN, SETTING, AND PARTICIPANTS Clinical genetic study...

Diffusion tensor imaging and voxel based morphometry are efficient in the diagnosis of neurodegenerative disorders, however, these technologies are available at a limited number of facilities. Thus, conventional MRI remains important in the diagnosis of neurodegenerative disorders. Dorsolateral putaminal hyperintensity (DPH) and hot cross bun sign discriminate Parkinson's disease from multiple ...

Multiple system atrophy (MSA) is sporadic, progressive neurodegenerative disorder characterized clinically by autonomic dysfunction, Parkinsonism (MSA-P), and cerebellar ataxia (MSA-C) in any combination. Parkinsonism is present in the majority of patients (80%). Early in the course of the disease autonomic dysfunctions are present in approximately 40% of patients, while the domination of cereb...