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A 56-year-old man attended the emergency department with his wife, who reported that his speech had become slurred (he denied this) and that he may be having a stroke. The patient described only occasional swallowing difficulty. He had a 10-year history of progressive hearing loss requiring bilateral hearing aids. When aged 11 years, he had undergone resection and radiotherapy for a posterior fossa astrocytoma. He smoked cigarettes and took a statin for hyperlipidaemia. On examination, he had dysarthria and bilateral ptosis. CT scan of head showed no acute changes. He was admitted for 3 days under the stroke team, and his symptoms improved. An MR scan of brain 5 days later showed the previous posterior fossa surgery with cerebellar atrophy, chronic small vessel disease but no acute infarction. He was referred to neurology. In neurology outpatients, we obtained a 10-year history of worsening ptosis and vertical diplopia. In the preceding 12 months, there had been occasional slurred speech, swallowing difficulty, loss of balance and an abnormal sensation over the right upper lip. His symptoms would worsen towards the end of the day. His wife had noticed that his slurred speech had notably worsened on the evening he attended the emergency department. There was no limb weakness or sphincter problem. His hearing had progressively deteriorated over 10 years, for which he had attended an ENT clinic. Two MR scans of brain, 5 years apart had identified evidence of previous surgery, left cerebellar hemisphere atrophy, and enlargement of the fourth ventricle and cisterna magna. On examination, he had bilateral hearing aids and a scar from a previous posterior fossa craniotomy. There was bilateral ptosis without fatigability. His eye movements were full but with vertical separation of images on right horizontal gaze. His speech was nasal in character. There was a spastic catch in the right arm, but …

Burkholderia pseudomallei causes Whitmore’s disease or melioidosis which is endemic in many South Asian countries including India. This gram-negative bacterium is frequently found in the moist soil and agricultural workers get infected most commonly. Most of the infections are asymptomatic and have a wide spectrum of manifestations as in tuberculosis. Melioidosis of the spine manifests as spondylodiscitis with paravertebral and prevertebral abscess and presentation as discitis alone is not reported. We report the first case of melioidosis causing isolated discitis without any obvious bony involvement. It also highlights the need for preoperative suspicion of these rare manifestations even in seemingly innocuous disc disease presenting as back pain and radiculopathy.

A 44-year-old man is described with severe flaccid quadriparesis that evolved over 3 weeks. He had regularly binged on alcohol-up to 20 cans of beer per day with occasional consumption of spirits-for more than 15 years but had balanced this with regular food intake. However, for a week prior to the current episode he had not eaten anything of significance. Nerve conduction studies revealed a background peripheral, mainly sensory, neuropathy with a superimposed acute motor axonopathy. CSF was normal. He improved with high dose vitamin replacement and physiotherapy but remains dependent on a Zimmer frame for mobility and a splint for wrist drop.

Objectives: To report the neuropathological findings of a patient with immune reconstitution syndrome associated with progressive multifocal leukoencephalopathy (PML) in human immunodeficiency virus (HIV) and to review the literature. Methods: A 38-year-old man was presented with a rapidly evolving brainstem syndrome. Serology for HIV was positive with an initial CD4 count of 130 cells/mL3. Magnetic resonance imaging showed widespread high signal changes within the brainstem bilaterally, the cerebellum, inferior cerebellar peduncle, and the frontal lobe on the right. Opportunistic infections were excluded from blood and cerebrospinal fluid samples. Despite treatment with antiretrovirals, he continued to deteriorate neurologically, and a repeat magnetic resonance imaging scan showed progression of his lesions. Cortical wedge frontal lobe brain biopsy showed features characteristic of PML, but was associated with an exaggerated inflammatory response. Polymerase chain reaction analysis of the specimen demonstrated the presence of JC virus (JCV) DNA, confirming the pathologic impression of PML. Results: The patient made a rapid (within 24 hours) improvement with pulsed methylprednisolone and has maintained a clinical response 7 months later. These features clinically, radiologically, and histopathologically suggest an added component in the form of immune reconstitution syndrome to PML. Conclusion: This report highlights the need to carefully evaluate the clinical syndrome in patients with HIV-associated leukoencephalopathy. It also substantiates the role of corticosteroids in carefully considered cases of HIV with leukoencephalopathy secondary to immune reconstitution.

Two hundred and twenty-three consecutive patients fulfilling clinical diagnostic criteria for frontotemporal lobar degeneration (FTLD), and 259 patients with motor neuron disease (MND), for whom genomic DNA was available, were investigated for the presence of mutations in tau (MAPT) and progranulin (PGRN) genes. All FTLD patients had undergone longitudinal neuropsychological and clinical assessment, and in 44 cases, the diagnosis had been pathologically confirmed at post-mortem. Six different PGRN mutations were found in 13 (6%) patients with FTLD. Four apparently unrelated patients shared exon Q415X 10 stop codon mutation. However, genotyping data revealed all four patients shared common alleles of 15 SNPs from rs708386 to rs5848, defining a 45.8-kb haplotype containing the whole PGRN gene, suggesting they are related. Three patients shared exon 11 R493X stop codon mutation. Four patients shared exon 10 V452WfsX38 frameshift mutation. Two of these patients were siblings, though not apparently related to the other patients who in turn appeared unrelated. One patient had exon 1 C31LfsX34 frameshift mutation, one had exon 4 Q130SfsX130 frameshift mutation and one had exon 10 Q468X stop codon mutation. In addition, two non-synonymous changes were detected: G168S change in exon 5 was found in a single patient, with no family history, who showed a mixed FTLD/MND picture and A324T change in exon 9 was found in two cases; one case of frontotemporal dementia (FTD) with a sister with FTD+MND and the other in a case of progressive non-fluent aphasia (PNFA) without any apparent family history. MAPT mutations were found in 17 (8%) patients. One patient bore exon 10 + 13 splice mutation, and 16 patients bore exon 10 + 16 splice mutation. When PGRN and MAPT mutation carriers were excluded, there were no significant differences in either the allele or genotype frequencies, or haplotype frequencies, between the FTLD cohort as a whole, or for any clinical diagnostic FTLD subgroup, and 286 controls or between MND cases and controls. However, possession of the A allele of SNP rs9897526, in intron 4 of PGRN, delayed mean age at onset by approximately 4 years. Patients with PGRN and MAPT mutations did not differ significantly from other FTLD cases in terms of gender distribution or total duration of illness. However, a family history of dementia in a first-degree relative was invariably present in MAPT cases, but not always so in PGRN cases. Onset of illness was earlier in MAPT cases compared to PGRN and other FTLD cases. PNFA, combined with limb apraxia was significantly more common in PGRN mutation cases than other FTLD cases. By contrast, the behavioural disorder of FTD combined with semantic impairment was a strong predictor of MAPT mutations. These findings complement recent clinico-pathological findings in suggesting identifiable associations between clinical phenotype and genotype in FTLD.

Frontotemporal lobar degeneration (FTLD) refers to a focal, non-Alzheimer form of cerebral degeneration that encompasses the distinct clinical syndromes of frontotemporal dementia (FTD), progressive non-fluent aphasia (PNFA) and semantic dementia. Some patients show tau-based pathological changes and in familial cases mutations have been identified in the microtubule-associated protein tau gene (MAPT) on chromosome 17q21. However, many cases are tau-negative, showing instead ubiquitin-immunoreactive (UBQ-ir) neuronal cytoplasmic inclusions and neurites, and in some familial cases UBQ-ir neuronal intranuclear inclusions of a lentiform appearance. Very recently, mutations have been identified in familial cases in the progranulin (PGRN) gene, also on chromosome 17q21. Clinical, pathological and molecular diversity within FTLD highlights the importance of careful examination of clinical-pathological-genetic relationships. This paper reports, for the first time, a clinico-pathological investigation of two FTLD families with PGRN mutations, and compares the clinical characteristics with those of patients studied in the department with MAPT mutations. The clinical profile associated with PGRN mutations constituted, in some patients, a prototypical picture of FTD and in others one of PNFA, both profiles occurring within the same family. Patients with PGRN mutations exhibited phonological deficits, whereas in patients with MAPT mutations language abnormalities, when present in addition to the prominent behavioural disorder, take the form of semantic disturbance. The findings provide compelling evidence for the link between FTD and PNFA, while raising the possibility of identifiable clinical differences between FTLD patients with MAPT and PGRN mutations.

We have investigated the pathological correlates of dementia in the brains from a consecutive series of 70 patients dying with a clinical diagnosis of frontotemporal lobar degeneration (FTLD). Clinical misdiagnosis rate was low with only 3 patients (4%) failing to show pathological changes consistent with this diagnosis; 1 patient had Alzheimer's disease and 2 had cerebrovascular disease (CVD). In the remaining 67 patients, the most common underlying histological cause was ubiquitin pathology with 24 (36%) cases so affected. In these, ubiquitin-positive inclusions were present in the cerebral cortex as small, rounded or crescent-shaped structures within the cytoplasm of neurones of layer II, together with coiled or curvilinear bodies within neurites, and in the hippocampus as small, solid and more spherical-shaped inclusion bodies within the cytoplasm of dentate gyrus granule cells. In one patient, "cat's eye" or "lentiform" intranuclear ubiquitin inclusions were also present. The second most common histological type was dementia lacking distinctive histology (DLDH), in which neither tau nor ubiquitin inclusions were present, with 16 cases (24%) being affected. Pick-type histology was seen in 14 cases (21%) and tau histological changes associated with frontotemporal dementia (FTD) linked to chromosome 17 (FTDP-17) were present in 11 cases (16%). One case (1%) showed an unusual tau pathology that could not be allocated to any of the other tau groups. Only 1 case (1%) had neuronal intermediate filament inclusion dementia. No cases with ubiquitinated, valosin-containing protein-immunoreactive intranuclear inclusion bodies of the type seen in inclusion body myopathy with Paget's disease of bone and frontotemporal dementia were seen. Clinicopathological correlation showed that any of these histological subtypes can be associated with FTD. However, for FTD with motor neurone disease (FTD+MND), semantic dementia or primary progressive aphasia (PA), the histological profile was either ubiquitin type or DLDH type; Pick-type histology was seen in only 1 case of PA. None of these latter three clinical subtypes was associated with a mutation in tau gene and FTDP-17 type of tau pathology. All cases of progressive apraxia were associated with Pick-type histology. Present data therefore indicate that, although ubiquitin pathology is the most common histological form associated with FTLD, this pathology is not tightly linked with, nor is pathologically diagnostic for, any particular clinical form of the disease, including FTD+MND.

Objective – The occurrence of high signal abnormalities on T2 weighted images is strongly age related. The diagnostic value of these changes in a younger population with dementia is not currently known. We studied the potential of high signal changes on magnetic resonance imaging (MRI) in differentiating Alzheimer's disease (AD), frontotemporal dementia (FTD) and vascular dementia (VaD) in younger patients. Methods – High signal abnormalities were rated, using a previously validated scale, from hard copies of T2 weighted axial images of 102 patients with AD (n=49), VaD (n=31), FTD (n=22) (mean ages 63–65 years). Results – High signal abnormalities were widespread across AD, VaD and FTD. Although they were most frequent and most severe in the VaD group only lacunes and grade III deep white matter hyperintensities (DWMH) were specific for these patients. Conclusions – High signal changes on T2 weighted images on MRI are common across degenerative (AD and FTD) and vascular dementias. Although lacunes and grade III DWMH are specific for VaD, the low sensitivities (sensitivities: for lacunes, 0.32; for grade III DWMH, 0.16) limit their use as diagnostic markers for VaD. High signal changes on MRI should be interpreted with caution in dementias. Their presence, even in younger patients, should not deter one from diagnosing AD or FTD.

Objectives Alzheimer's disease (AD), frontotemporal dementia (FTD) and vascular dementia (VaD) are the three most common causes of young onset dementias. Most neuroimaging studies of these disorders have involved comparisons with normal controls. The aims of this study were to examine the clinical diagnostic value of magnetic resonance imaging (MRI) and single photon emission computed tomography (SPECT) (in combination and in isolation) in the differentiation of one form of dementia from another from amongst a group of AD, FTD and VaD. Methods Tl weighted MRI images and 99m Tc-HMPAO SPECT images were obtained from consecutive patients with FTD (n = 21). AD (n = 23) and VaD (n = 20) and rated visually by experienced neuroradiologists and nuclear medicine physicians. Results Asymmetrical atrophy was seen only in FTD. Frontotemporal dementia patients were the most atrophic whereas severe atrophy was rarely observed in VaD. Severe frontal atrophy (unilaterally or bilaterally) and/or asymmetrical atrophy on MRI is highly diagnostic (sensitivity 0.71, specificity 0.93, LR 10.24) of FTD from within a group of FTD and non-FTD (AD, VaD) patients. Mild or severe parietal atrophy with severe reduction in parietal regional cerebral blood flow on SPECT is diagnostic (sensitivity 0.71, specificity 0.76, LR 3.02) of AD from within a group of AD and non-AD (VaD, FTD) patients. Conclusion Anatomical (MRI) and functional (SPECT) imaging provide different information and a combination of these modalities improves diagnostic specificity.

Ataxia is a common neurological syndrome resulting from cerebellar, vestibular or sensory disorders. The recognition and characterisation of sensory ataxia remains a challenge. Cerebellar ataxia is the more common and easier to identify; sensory ataxia is often mistaken for cerebellar ataxia, leading to diagnostic errors and delays. A coherent aetiological work-up is only possible if clinicians initially recognise sensory ataxia. We discuss ways to separate sensory from cerebellar ataxia, the causes of sensory ataxia and the clinico-neurophysiological syndromes causing the sensory ataxia syndromes. We summarise a logical tiered approach as a diagnostic algorithm.

Objectives– The study aimed to increase understanding of behavioural changes in frontotemporal dementia (FTD) and identify features that best differentiate FTD from Alzheimer's disease (AD) and cerebrovascular dementia (CvD). Methods– A semi-structured questionnaire was administered to carers of 30 FTD, 75 AD and 34 CvD patients. Results– Behavioural changes that strongly discriminated FTD from AD and to a lesser extent CvD were loss of emotions and insight, selfishness, disinhibition, personal neglect, gluttony and sweet food preference, wandering, motor and verbal stereotypies, loss of pain, echolalia and mutism. Irritability, hyposexuality and hypersomnia did not discriminate. Emotional, eating and stereotyped behaviours correctly classified 95% of patients using regression analysis. Conclusions– Behavioural characteristics accurately differentiate FTD from AD and CvD. The findings highlight the particular importance of affective change in FTD, and underline the role of the frontotemporal lobes in emotion.

Frontotemporal dementia (FTD) is the second most common cause of presenile dementia. Here we have investigated the frequency of the epsilon4 allele of the Apolipoprotein (APOE) gene in FTD and in other non-Alzheimer forms of dementia related to FTD such as Motor Neurone disease dementia, semantic dementia, progressive aphasia, progressive supranuclear palsy, and corticobasal degeneration. In none of these diagnostic groups did we find a significant increase in the APOE epsilon4 allelic frequency, compared to population values. Neither did we observe any affects of the epsilon4 allele upon age at onset or duration of disease. We conclude therefore that polymorphic variations in the APOE gene do not modulate either the occurrence or progression of these non-Alzheimer forms of dementia.

Objectives - Dementia with Lewy bodies (DLB) is the second commonest neurodegenerative cause of dementia. While there is consensus on the clinical diagnostic criteria for DLB, the use of EEG to increase the diagnostic sensitivity has not been substantiated. Material and methods - We studied the resting EEG findings in 18 consecutive patients with DLB and compared them with a control group of 20 patients with "probable'' Alzheimer's disease (AD). We aimed to evaluate the use of EEG in a representative sample of patients with DLB. Results - All patients with DLB fulfilled accepted clinical criteria for DLB. The DLB group had a more severe dementia than the AD group, as measured by the Mini- Mental State Examination (MMSE) test (DLB meanMMSE 9.4 and AD mean MMSE 17.2) despite a similar duration of overall severity of illness. The EEG was slow in both groups, predominantly in the 4±7 Hz range. Although there was no statistically signifcant difference in the EEG findings between the DLB and AD groups, there was a correlation between the EEG score and MMSE score (Spearman Rank correlation rs=x0.61, < P0.001). Conclusion - These findings suggest that although patients with DLB have a more aggressive course than AD, EEG abnormalities do not differ in the 2 groups. However, we believe the EEG provides important supporting diagnostic information in DLB.

An eleven-year-old boy presented with a mass in the right iliac fossa for the last 21 days associated with pain, fever, anorexia, and nausea. The patient was thoroughly investigated and contrast-enhanced CT abdomen revealed a well-defined mass in the region of right iliac fossa. Exploratory laparotomy was done and a mass measuring 10 cm in diameter arising from mesentery of proximal ileum and adherent with the wall of ileum was seen. Resection and anastomosis were done. Histopathological examination showed mesenteric fibromatosis. Postoperatively, patient was well and 3-month followup showed normal recovery.

An 86-year-old woman presented to the geriatric department with a 6-week history of low back and leg pains, which had started following an attack of diarrhoea and vomiting. She reported an aching sensation in her mid-thoracic region and pins and needles in her extremities. There was a history of Duke's B carcinoma of the colon, successfully excised in 1999, with no known recurrence. She lived alone and was independent. On examination in the Rapid Access Elderly Care unit, she was frail yet ambulant. There was global weakness, though particularly proximally, and she needed to use her arms to stand from a seated position. Reflexes were absent in the lower limbs and the plantar responses were flexor. There were no objective sensory deficits. General systemic examination was normal. The only routine blood test abnormalities were serum potassium of 2.2 mmol/l (3.5–5.3) and serum C reactive protein of 43.8 mg/l (0–10). MR scan of the thoraco–lumbar spine showed multilevel degenerative disc disease, worse at L4/5 and L5/S1. There was no compression of the spinal cord or nerve roots. ### Question 1 What is your impression of her presentation at this stage? Her clinical problem of back pain and aching is relatively common in an elderly care clinic, although her symptom onset was acute. The examination findings were also relatively non-specific at her age. Initial blood tests showed moderate hypokalaemia, which can be secondary to diarrhoea and can be associated with weakness, particularly in the elderly. The raised serum C reactive protein may have related to the diarrhoeal illness, but should probably be normal 6 weeks after an acute infection. The thoracolumbar spine imaging showed degenerative changes frequently seen in the elderly. ### Question 2 What would you do next? The geriatrician requested a nerve conduction study. This showed widespread reduction in amplitude of compound muscle action potentials, with only …

Autoimmune limbic encephalitis is an increasingly recognised cause of cognitive decline and confusion. The typical presentation is with subacute cognitive decline, behavioural dis- turbance and seizures. Magnetic resonance imaging may show characteristic changes in the medial temporal regions. The diagnosis is confirmed by identification of elevated voltage- gated potassium channel antibody (VGKC-Ab) titres. It is a highly treatable condition, often responding well to intravenous immunoglobulin or steroids. Recognition of autoimmune limbic encephalitis is sometimes delayed - usually because the diag- nosis has not been considered - which can result in long-term neurological consequences.

A 50-year-old, right handed woman presented in January 2009 with a 1-week history of unsteadiness and dysphagia. Three weeks previously, she had a self-limiting flu like illness. Clinically she had a right internuclear ophthalmoplegia (INO), horizontal and upbeat nystagmus, right sided facial weakness of upper motor neuron (UMN) type and asymmetrical spastic quadriparesis, worse on the left. On the sixth day of admission, there was acute deterioration in her consciousness, requiring intensive care admission for airway protection. The following tests were either normal or negative: routine biochemistry, vitamin B12, folate, lactate, antinuclear antibodies, extractable nuclear antigen antibodies, antineutrophil cytoplasmic antibodies, rheumatoid factor, serum ACE, paraneoplastic antibodies, glycolipid antibodies, cryoglobulins, serum and urine electrophoresis, serology testing including syphilis, HIV, hepatitis B and C. Cerebrospinal fluid (CSF) constituents including virology, cytology and oligoclonal bands were either normal or negative. MRI of the brain showed a non-enhancing high signal change within the right middle cerebellar peduncle extending inferiorly into the dorsal aspect of the brainstem. A small rounded area of signal change was also noted in the left middle cerebellar peduncle. There were a few foci of high signal intensity in the subcortical white matter bilaterally (figure 1). Figure 1 Axial T2 sequence showing signal change within the right middle cerebellar peduncle. A small rounded area of signal change was also noted in the left middle cerebellar peduncle. ### Question 1 How would you classify this presentation? The patient had presented with a brainstem encephalopathy of undetermined aetiology. All the prominent possible causes including Listeria rhomboencephalitis, sarcoidosis, vasculitides and Behcet's syndrome had been carefully considered. She was treated for possible infective and inflammatory causes with amoxicillin, meropenem and a 3-day course of intravenous methylprednisolone followed by a tapering dose of oral steroids. She made a remarkable recovery, returning to all her activities of daily living within the …

Encephalitic syndromes are a common medical emergency. The importance of early diagnosis and appropriate treatment is paramount. If initial investigations for infectious agents prove negative, other diagnoses must be considered promptly. Autoimmune encephalitides are being increasingly recognized as important (and potentially reversible) non-infectious causes of an encephalitic syndrome. We describe four patients with autoimmune encephalitis--3 auto-antibody positive, 1 auto-antibody negative--treated during the last 18 months. A comprehensive review of the literature in this expanding area will be of interest to the infectious diseases, general medical and neurology community.

We describe 3 individuals infected with human immunodeficiency virus with unusual focal brain syndromes; magnetic resonance imaging revealed "open-ring" pattern space occupying lesions. After deterioration while the patients were receiving anti-Toxoplasma therapy, brain biopsy was performed, which revealed aggressive demyelination consistent with tumefactive demyelination. Treatment with high-dose steroids resulted in complete recovery in all cases.

In 2003 we reported a case study of a patient, Newton who presented with a progressive circumscribed anomia in association with focal left hemisphere atrophy. Remarkably, he could spell aloud the names of objects that he could not name, indicating dissociated access to phonology and orthography. We now present follow-up clinical data, post-mortem histopathological findings, and results of molecular genetic analysis. Newton showed tau-negative ubiquitin-positive histology consistent with frontotemporal lobar degeneration (FTLD) and a mutation in the progranulin (PGRN) gene. The case exemplifies the heterogeneity of clinical expression of FTLD and contributes to understanding of primary progressive aphasia.

Basal encephalocoeles are rare congenital abnormalities of the skull base. The authors describe a rare case of spontaneous CSF leak and meningitis secondary to an intra-sphenoidal encephalocoele. Initial endoscopic transsphenoidal repair was unsuccessful, necessitating a combined subtemporal and transsphenoidal approach to close the defect.

Variation in the clinical characteristics of patients with Alzheimer's disease (AD) is increasingly recognised, although the factors underlying variation are not fully understood. The study examined the cognitive characteristics of 523 AD patients at the time of their presentation to a neurological dementia clinic and explored the relationship to family history and apolipoprotein E (APOE) genotype. Distinct profiles were identified, which were mirrored by topographical differences on neuroimaging. Clinical distinctions were maintained over time. Two-thirds of patients showed a constellation of deficits at presentation which included memory, language, visuospatial and constructional difficulties. However, a quarter had circumscribed presentations of amnesia, aphasia, perceptuospatial disorder or apraxia. The rare presence of frontal lobe characteristics was associated with a younger age of onset, an increased incidence of myoclonus at presentation, a positive family history but not with possession of APOE epsilon4 allele. An amnestic presentation (severe, yet circumscribed amnesia) was strongly associated with an older age of onset, a positive family history and the presence of APOE epsilon4 allele. Posterior cortical presentations showed a female bias, were typically sporadic, and showed no association with APOE epsilon4. The findings support the notion of phenotypic variation in AD, and show that genetic risk factors can influence clinical presentation. The findings draw attention to the specific association between APOE epsilon4 allele and memory but challenge the commonly held notion that the presence of the epsilon4 allele inevitably reduces onset age. The findings indicate that risk factors other than APOE epsilon4 allele underlie the non-familial, early onset posterior hemisphere presentations of AD.

Objective: To determine whether polymorphic variations in the apolipoprotein E gene ( APOE ) are associated with increased risk of frontotemporal lobar degeneration (FTLD) when mutation in tau gene is absent. Methods: The APOE gene was genotyped by polymerase chain reaction from DNA routinely extracted from blood or brain tissues. The APOE e4 allele frequency in 198 patients with FTLD not associated with mutations in tau gene was compared with that of a control group of 756 normal individuals drawn from the same geographical region. Analyses were done according to clinical subtype or sex. Results: The APOE e4 allele frequency (19.4%) was increased (p = 0.01) in FTLD v the whole control group (14.1%), while the APOE e2 allele frequency in FTLD (6.5%) was slightly lower than in controls (8.0%) (NS). The APOE e4 allele frequency in men with FTLD (22.3%) was greater (p = 0.002) than in male controls (12.3%); the frequency in women (16.3%) was similar to that in female controls (14.8%) (NS). The APOE e2 allele frequency in men with FTLD was 4.9% while in male controls it was 9.5% (p = 0.06), but there was no difference in women (7.5% v 7.9%, NS). Neither the APOE e2 nor APOE e4 allele frequency varied significantly between any of the clinical subtypes. Conclusions: In FTLD not associated with mutations in tau gene, possession of APOE e4 allele in men roughly doubles the chances of developing disease, whereas this has no impact upon disease risk in women.

The authors describe a magnetic resonance (MR) imaging technique to quantify the severity and distribution of cerebral atrophy by using automated volumetric analysis of the distribution of cerebrospinal fluid. The MR imaging technique demonstrated high diagnostic sensitivity and specificity in a group of healthy subjects and patients with dementing diseases. The authors conclude that this approach provides valuable clinical information that is complementary to information acquired with standard diagnostic practices. © RSNA, 2002

To determine whether dementia with Lewy bodies (DLB) and Alzheimer's disease (AD) can be differentiated on the basis of qualitative performance characteristics during neuropsychological evaluation.Forty one patients with clinically defined DLB were matched with 26 patients with AD for age, illness duration, nature and severity of cognitive deficits, and regional blood flow distribution on SPECT. The presence or absence of a set of qualitative performance characteristics, observed and recorded during the patients' initial cognitive evaluation, was identified by retrospective analysis of patients' records and the groups compared.Inattention, visual distractibility, impairments in establishing and shifting mental set, incoherence, confabulatory responses, perseveration, and intrusions were significantly more common in DLB than AD. Intrusions were particularly common in DLB, occurring in 78% of the group. They included externally cued intrusions arising from the visual environment, a feature never seen in AD. In a stepwise logistic regression analysis impaired mental set shifting, perseveration, and the presence of intrusions correctly classified 79% of patients.It is possible to differentiate DLB and AD on the basis of qualitative features of performance. As many features are amenable to detection at clinical interview, they ought to contribute to clinicians' diagnostic armoury, leading to improved clinical recognition of DLB.

Hydatid disease is relatively frequent in our country. Asymptomatic hydatid disease may present with complications, but unusual locations as well as multiple primary or secondary hydatid disease pose special diagnostic and therapeutic challenges. In humans, hydatid disease commonly involves the liver (75%) and the lungs (15%). The remaining (10-15%) of the cases involve other regions of the body. Synchronous multiple cysts represent less than 2% of all cases. The disseminated intra-peritoneal hydatid disease is a very rare finding. We report such a presentation wherein the abdominal cavity, retro peritoneum and pelvis contain multiple hydatid cysts. The challenges encountered in the diagnosis and treatment of this patient are highlighted.

A twenty seven year old female patient presented to the hospital with recurrent pain in the right hypochondrium of five years duration. She had a history of failed cholecystectomy four years back. A CT and MRI scan, revealed splenenculi, midline liver, cholelithiasis, truncated pancreas and dextrocardia. These symptoms were attributed to the calculous cholecystitis. Laparoscopic cholecystectomy was done and patient recovered uneventfully. Here we are presenting the first instance of successful laparoscopic cholecystectomy in a patient with heterotaxy syndrome, as it is a unique challenge for operating surgeons. The purpose of this report is to encourage further research to establish a protocol for the management of these patients with a rare congenital anomaly. This will help us establish a protocol for such patients so as to minimize complications intra operatively.

A thirty-year-old fertile man with a history of right-sided cryptorchidism presented to the surgical outpatient department with a right iliac fossa mass of two months duration. On computed tomography scan of the abdomen, diagnosis of malignant testicular mass with right ectopic kidney and eventration of right hemidiaphragm was made. Exploratory laparotomy with surgical resection of mass was done, which was histopathologically diagnosed as seminoma of the right testis. The unique developmental anomalies and associated seminoma made us report this case. These developmental anomalies may be a possible sequence of events or merely a coincidental combination.

The purpose of this study was to investigate patterns of 99mTc-HMPAO single-photon emission computed tomography (SPECT) abnormality in Lewy body disease (LBD) and to compare findings with those encountered in Alzheimer’s disease (AD). The study group comprised 20 consecutive patient referrals fulfilling clinical criteria for LBD. All patients had fluctuating cognitive impairment and ‘subcortical’ dysfunction with or without perceptuospatial and/or linguistic impairment. Six patients had asymmetrical signs of parkinsonism (three left-sided and three right-sided), and 14 patients had symmetrical features of extrapyramidal involvement. 99mTc-HMPAO SPECT imaging was performed on LBD patients and findings compared with those of 57 patients with ‘probable’ AD and 11 normal age-matched controls. Within the LBD and AD groups, patterns of cortical and subcortical blood-flow abnormality were compared with patterns of cognitive and neurological breakdown. LBD was associated with bilateral posterior cortical blood flow abnormality, a pattern strikingly similar to that found in AD. Within the LBD group, cortical blood-flow abnormality was found to reflect patterns of neurological dysfunction (parkinsonism) indicative of subcortical involvement. In contrast, cortical blood-flow changes did not reflect patterns of neuropsychological impairment suggestive of cortical dysfunction. Within the AD group, cortical blood-flow changes were mirrored by the pattern of neuropsychological impairment. Findings support the notion that cortical blood-flow abnormality in LBD might reflect a combination of direct cortical pathology and cortical deafferentation secondary to subcortical Lewy body pathology. It would appear that 99mTc-HMPAO SPECT imaging is of limited value in the clinical differentiation of LBD and AD.

Dystonia is a neurological condition which causes sustained muscular contractions of an involuntary and patterned nature that induce abnormal postures and twisting movements of the affected body region. A complete understanding of the pathogenesis of dystonia remains to be established, however recent studies suggest abnormalities in somatosensory processing play a key role in the initiation of dystonia. We present the case of a young male who developed sustained, patterned, involuntary movements of his upper limbs following cervical myelopathy induced by a whiplash injury. The movements were not altered after eye closure, therefore were dystonic rather than pseudoathetoid in nature. The dystonia was associated with markedly impaired upper limb proprioception secondary to the myelopathy. Both the dystonia and proprioception improved following a C3-C6 cervical laminectomy and lateral mass fusion surgical procedure. Our case is very rare and only one similar case has previously been reported. We propose that this gentleman developed dystonia due to impaired proprioception caused by his cervical myelopathy. This interesting and important case provides further evidence for the proposal that impaired sensory function is involved in the pathophysiology of dystonia. An improved understanding of the mechanisms causing dystonia will hopefully lead to improved treatment for this disabling condition.

OBJECTIVES—The diagnosis of Alzheimer's disease (AD) is now reliant on the use of NINCDS-ADRDA criteria. Other diseases causing dementia are being increasingly recognised—for example, frontotemporal dementia (FTD). Historically, these disorders have not been clearly demarcated from AD. This study assesses the capability of the NINCDS-ADRDA criteria to accurately distinguish AD from FTD in a series of pathologically proved cases. METHODS—The case records of 56 patients (30 with AD, 26 with FTD) who had undergone neuropsychological evaluation, brain imaging, and ultimately postmortem, were assessed in terms of whether at initial diagnosis the NINCDS-ADRDA criteria were successful in diagnosing those patients who had AD and excluding those who did not. RESULTS—(1) The overall sensitivity of the NINCDS-ADRDA criteria in diagnosing "probable" AD from 56 patients with cortical dementia (AD and FTD) was 0.93. However, the specificity was only 0.23; most patients with FTD also fulfilled NINCDS-ADRDA criteria for AD. (2) Cognitive deficits in the realms of orientation and praxis significantly increased the odds of a patient having AD compared with FTD, whereas deficits in problem solving significantly decreased the odds. Neuropsychological impairments in the domains of attention, language, perception, and memory as defined in the NINCDS-ADRDA statement did not contribute to the clinical differentiation of AD and FTD. CONCLUSION—NINCDS-ADRDA criteria fail accurately to differentiate AD from FTD. Suggestions to improve the diagnostic specificity of the current criteria are made.