The heart of the matter: secretory pheochromocytoma presenting as recurrent biventricular heart failure (Takotsubo cardiomyopathy).

Takotsubo's syndrome (TS) is an acute, transient cardiomyopathy occurring secondary to physical or emotional stressors through catecholamine excess. Secretory pheochromocytomas have been previously implicated in cases of TS (PTS), however, often present atypically, are associated with reoccurrence, and have higher rates of complications. We describe the case of a 70-year-old female who presented central chest pain, hypotension and electrocardiogram changes on a background of a 6-month prior episode of resolved Takotsubo's with unknown cause. After progressing to cardiogenic shock with biventricular failure, computerized tomography coronary aortogram revealed an incidental adrenal mass, later proven to be a secretory pheochromocytoma on biochemistry and subsequent histology. PTS has been associated with recurrence and rarely presents as cardiogenic shock. This case highlights the complexity of TS presentations and complications and the diagnostic delays that may occur in PTS.

A pedunculated small bowel gastrointestinal stromal tumour (GIST) masquerading as an ovarian tumour.

While gastro-intestinal stromal tumours (GIST) are the most common non-epithelial neoplasms of the gastrointestinal tract, 10% occur externally. Symptomatology is therefore broad, dependent on location. A 42-year-old female presented to the Emergency Department after 12 hours of severe right lower abdominal, preceded by vague pain over two weeks. Imaging revealed a right-sided 7.5 × 5.8 × 5.6 cm ovarian cystic lesion, suspicious for torsion. Laparoscopically, the lesion was densely adherent to small and large bowel, and she was proceeded to resection of an assumed primary ovarian neoplasm. Histopathology revealed an infarcted epithelioid GIST, high-grade with clear margins (stage pT3). There are only 24 cases of GISTs pre-operatively mistaken for gynaecological neoplasms. Additionally, there are reports of GISTs metastasizing to ovaries. Both computed tomography and ultrasound are non-specific, including hypo- and hyperechoic features. In all published cases, imaging was not able to identify presumed gynaecological neoplasms as GISTS. Differential diagnoses for pelvic masses should include non-gynaecological tumours.

Striatal morphology correlates with frontostriatal electrophysiological motor processing in Huntington's disease: an IMAGE-HD study.

BACKGROUND: Huntington's disease (HD) causes progressive atrophy to the striatum, a critical node in frontostriatal circuitry. Maintenance of motor function is dependent on functional connectivity of these premotor, motor, and dorsolateral frontostriatal circuits, and structural integrity of the striatum itself. We aimed to investigate whether size and shape of the striatum as a measure of frontostriatal circuit structural integrity was correlated with functional frontostriatal electrophysiological neural premotor processing (contingent negative variation, CNV), to better understand motoric structure-function relationships in early HD. METHODS: Magnetic resonance imaging (MRI) scans and electrophysiological (EEG) measures of premotor processing were obtained from a combined HD group (12 presymptomatic, 7 symptomatic). Manual segmentation of caudate and putamen was conducted with subsequent shape analysis. Separate correlational analyses (volume and shape) included covariates of age, gender, intracranial volume, and time between EEG and MRI. RESULTS: Right caudate volume correlated with early CNV latency over frontocentral regions and late CNV frontally, whereas right caudate shape correlated with early CNV latency centrally. Left caudate volume correlated with early CNV latency over centroparietal regions and late CNV frontally. Right and left putamen volumes correlated with early CNV latency frontally, and right and left putamen shape/volume correlated with parietal CNV slope. CONCLUSIONS: Timing (latency) and pattern (slope) of frontostriatal circuit-mediated premotor functional activation across scalp regions were correlated with abnormalities in structural integrity of the key frontostriatal circuit component, the striatum (size and shape). This was accompanied by normal reaction times, suggesting it may be undetected in regular tasks due to preserved motor "performance." Such differences in functional activation may reflect atrophy-based frontostriatal circuitry despecialization and/or compensatory recruitment of additional brain regions.

Abnormal Electrophysiological Motor Responses in Huntington's Disease: Evidence of Premanifest Compensation.

BACKGROUND: Huntington's disease (HD) causes progressive motor dysfunction through characteristic atrophy. Changes to neural structure begin in premanifest stages yet individuals are able to maintain a high degree of function, suggesting involvement of supportive processing during motor performance. Electroencephalography (EEG) enables the investigation of subtle impairments at the neuronal level, and possible compensatory strategies, by examining differential activation patterns. We aimed to use EEG to investigate neural motor processing (via the Readiness Potential; RP), premotor processing and sensorimotor integration (Contingent Negative Variation; CNV) during simple motor performance in HD. METHODS: We assessed neural activity associated with motor preparation and processing in 20 premanifest (pre-HD), 14 symptomatic HD (symp-HD), and 17 healthy controls. Participants performed sequential tapping within two experimental paradigms (simple tapping; Go/No-Go). RP and CNV potentials were calculated separately for each group. RESULTS: Motor components and behavioural measures did not distinguish pre-HD from controls. Compared to controls and pre-HD, symp-HD demonstrated significantly reduced relative amplitude and latency of the RP, whereas controls and pre-HD did not differ. However, early CNV was found to significantly differ between control and pre-HD groups, due to enhanced early CNV in pre-HD. CONCLUSIONS: For the first time, we provide evidence of atypical activation during preparatory processing in pre-HD. The increased activation during this early stage of the disease may reflect ancillary processing in the form of recruitment of additional neural resources for adequate motor preparation, despite atrophic disruption to structure and circuitry. We propose an early adaptive compensation mechanism in pre-HD during motor preparation.

Variability in outcome for children with an ASD diagnosis at age 2.

BACKGROUND: Few studies have examined the variability in outcomes of children diagnosed with autism spectrum disorder (ASD) at age 2. Research is needed to understand the children whose symptoms - or diagnoses - change over time. The objectives of this study were to examine the behavioral and diagnostic outcomes of a carefully defined sample of 2-year-old children with ASD, and to identify child and environmental factors that contribute to variability in outcomes at age 4. METHODS: Forty-eight children diagnosed with autism or pervasive developmental disorder not otherwise specified (PDDNOS) at age 2 were followed to age 4. Diagnostic measures included the Autism Diagnostic Observation Schedule - Generic (ADOS-G) and clinical diagnosis at ages 2 and 4, and the ADI-R at age 4. RESULTS: Diagnostic stability for an ASD diagnosis (autism or PDDNOS) was 63%, and for an autism diagnosis was 68%. Children who failed to meet diagnostic criteria for ASD at follow-up were more likely to: 1) be 30 months or younger at initial evaluation; 2) have milder symptoms of autism, particularly in the social domain; and 3) have higher cognitive scores at age 2. No differences between children with stable and unstable diagnoses were found for amount of intervention services received. Among the children with unstable diagnoses, all but one continued to have developmental disorders, most commonly in the area of language. CONCLUSIONS: The stability of ASD was lower in the present study than has been reported previously, a finding largely attributable to children who were diagnosed at 30 months or younger. Implications for clinical practice are discussed.

Follow-up of children with autism spectrum disorders from age 2 to age 9.

The purpose of the present study was to examine the developmental outcomes of children 7 years after their initial diagnosis. Children diagnosed with autism or PDD-NOS at age 2 received follow-up evaluations at age 9. Diagnostic stability was high, with 88 percent of the sample obtaining autism spectrum diagnoses at age 9. Cognitive scores improved considerably for a large segment of the sample, with over 50 percent obtaining scores in the average range at follow-up. Language outcomes were also positive at follow-up; 88 percent of the sample demonstrated at least some functional language, and 32 percent were able to engage in conversational exchanges. Early characteristics that predicted outcome status were: age of diagnosis, age 2 cognitive and language scores, and total hours of speech-language therapy between ages 2 and 3. These findings highlight the potential long-term benefits of both early identification and early intervention, and provide additional evidence for the importance of promoting public awareness of the early signs of autism.

Psychometric properties of the STAT for early autism screening.

The STAT is an interactive screening measure for autism that assesses behaviors in the areas of play, communication, and imitation skills. In Study 1, signal detection procedures were employed to identify a cutoff score for the STAT using developmentally matched groups of 2-year-old children with autism and with nonspectrum disorders. The resulting cutoff yielded high sensitivity, specificity, and predictive values for the development sample as well as for an independent validation sample. Study 2 examined psychometric properties of the STAT and revealed acceptable levels of interrater agreement, test-retest reliability, and agreement between STAT risk category and ADOS-G classification. The STAT demonstrates strong psychometric properties and shows promising utility as a Level 2 screening measure for autism.

The Parent Interview for Autism-Clinical Version (PIA-CV): a measure of behavioral change for young children with autism.

The Parent Interview for Autism-Clinical Version (PIA-CV) was developed to measure autism symptom severity across a wide range of behavioral domains. Two studies were conducted to examine the psychometric properties of the PIA-CV for a sample of children under 3 years old. Results of study 1 revealed adequate internal consistency for nine of the 11 PIA-CV dimensions, as well as significant group differences on social-communication domains between 2-year-old children with autism and a developmentally matched sample. Study 2 examined the association between changes in PIA-CV scores and changes in autism symptomatology from age 2 to age 4. Results revealed that changes on PIA-CV dimensions assessing social and communication skills were associated with clinically significant behavioral and diagnostic improvements. These findings support the utility of the PIA-CV for obtaining ecologically valid information from parents and for measuring behavioral change in young children with autism.

Visual recognition of biological motion is impaired in children with autism.

Autistic children and typically developing control children were tested on two visual tasks, one involving grouping of small line elements into a global figure and the other involving perception of human activity portrayed in point-light animations. Performance of the two groups was equivalent on the figure task, but autistic children were significantly impaired on the biological motion task. This latter deficit may be related to the impaired social skills characteristic of autism, and we speculate that this deficit may implicate abnormalities in brain areas mediating perception of human movement.