Validity of a computerised population registry of dementia based on clinical databases.

INTRODUCTION: The handling of information through digital media allows innovative approaches for identifying cases of dementia through computerised searches within the clinical databases that include systems for coding diagnoses. The aim of this study was to analyse the validity of a dementia registry in Gipuzkoa based on the administrative and clinical databases existing in the Basque Health Service. METHODS: This is a descriptive study based on the evaluation of available data sources. First, through review of medical records, the diagnostic validity was evaluated in two samples of cases identified and not identified as dementia. The sensitivity, specificity and positive and negative predictive value of the diagnosis of dementia were measured. Subsequently, the cases of living dementia in December 31, 2016 were searched in the entire Gipuzkoa population to collect sociodemographic and clinical variables. RESULTS: The validation samples included 986 cases and 327 no cases. The calculated sensitivity was 80.2% and the specificity was 99.9%. The negative predictive value was 99.4% and positive value was 95.1%. The cases in Gipuzkoa were 10 551, representing 65% of the cases predicted according to the literature. Antipsychotic medication were taken by a 40% and a 25% of the cases were institutionalised. CONCLUSIONS: A registry of dementias based on clinical and administrative databases is valid and feasible. Its main contribution is to show the dimension of dementia in the health system.

[Unusual thalamo-mesencephalic infarction: clinico-radiological correlations]. / Infarto tálamo-mesencefálico inusual: correlaciones clinicorradiológicas.

INTRODUCTION: Mesencephalic infarcts usually produce clinical features that allow the lesion to be located with precision, although they do not always match the patterns included in the classical syndromes reported in the literature, as occurs in the case we describe here. CASE REPORT: We report the case of a 73-year-old female with no cardiovascular risk factors, who presented a sudden clinical picture of instability, diplopia, palpebral ptosis and mild hypersomnia. On examining the patient the following manifestations were observed: compromise of the right common oculomotor nerve, up and down vertical gaze palsy, dysmetry of the right limbs and mild long tract signs in the left limbs. Magnetic resonance imaging of the brain revealed right thalamo-mesencephalic infarction in the paramedian territory, which became bilateral in the upper mesencephalon. The aetiological study showed only a carotid atheromatosis. CONCLUSIONS: Cerebellar compromise ipsilateral to a lesion in the common oculomotor nerve in mesencephalic infarcts is a very uncommon clinical variant. The pathogenetic heterogeneity of infarctions involving the mesencephalon makes it necessary to carry out an extensive aetiological study. Magnetic resonance imaging of the brain is an essential tool for understanding the clinical picture and the anatomical structures involved in cases of infrequent cerebral infarction.

[Creutzfeldt-Jakob disease: alterations in an isolated cortical signal in diffusion magnetic resonance imaging]. / Enfermedad de Creutzfeldt-Jakob: alteración de la señal cortical aislada en resonancia magnética de difusión.

INTRODUCTION: Neuroimaging is playing an increasingly important role in the diagnosis of Creutzfeldt-Jakob disease (CJD), as shown by the fact that it is giving rise to the exclusion of other processes and providing invaluable diagnostic data -above all alterations in the signal in basal ganglia and in the cerebral cortex. CASE REPORTS: Case 1: A 66-year-old male who had symptoms of rapidly progressing cognitive impairment that began in the occipital region, with ataxia and myoclonias. The electroencephalogram (EEG) recordings revealed the presence of periodic biphasic sharp waves, and determination of protein 14-3-3 in cerebrospinal fluid (CSF) was negative. In the second cranial magnetic resonance (MR) scan that was performed, a signal increase at the level of the cortex, and predominantly in the right hemisphere, was observed in the diffusion sequences. Case 2: An 80-year-old male with a subacute clinical picture of cognitive and motor impairment that progressed in a matter of weeks to akinetic mutism accompanied by myoclonias. EEG recordings showed diffuse slowing, and the determination of protein 14-3-3 in CSF was positive. In both cranial MR scans carried out, we observed an isolated increase in the cortical signal in FLAIR sequences, and in the second MR scan there was also an increase in the cortical signal in the diffusion sequences. Neuropathology findings confirmed the diagnosis of sporadic CJD in both patients. CONCLUSIONS: Cranial MR imaging in patients with CJD can be used to complement the other diagnostic tests and MR with diffusion sequences appears to offer greater diagnostic sensitivity, above all for the detection of a signal increase on a cortical level.

[22q11 deletion syndrome: an expanding phenotype]. / Síndrome de deleción 22q11: un fenotipo en expansión.

INTRODUCTION: Chromosome 22q11 deletion syndrome is a syndromic complex which includes several manifestations such as cardiac defects, immunodeficiency, cleft palate and facial dysmorphic features. It is also associated with developmental delay and other neuropsychiatric symptoms. Epilepsy is an uncommon manifestation. CASE REPORT: A 15 year old female patient with a history of developmental delay and learning difficulties. She began with generalized and partial complex epileptic seizures of unknown etiology in the absence of other known risk factors for seizures. Brain magnetic resonance imaging and electroencephalographic recording were normal. Neuropsychiatric history, phenotype with nasal voice and dysmorphic features justified the study of the 22q11 deletion that was diagnostic. CONCLUSIONS: 22q11 deletion is one of the most common microdeletion chromosomal syndromes. In recent years more atypical cases are being diagnosed due to a better knowledge of the syndrome and the availability of the fluorescence in situ hybridization test. These cases are conferring a wider phenotypical spectrum to the syndrome.Therefore, increasing awareness of the expression of this syndrome by different specialists is essential. Clinical features such as facial dysmorphism or nasal speech in atypical cases are important diagnostic clues.

[Analysis of gait and movement of upper limbs in muscular dystrophies]. / Análisis de la marcha y del movimiento de las extremidades superiores en distrofias musculares.

INTRODUCTION: The objective is to analyze gait and upper extremity movement in a sample of healthy individuals and patients with different muscular dystrophies and to determine the relationship of the obtained variables with the pattern of muscular involvement. SUBJECTS AND METHODS: Gait and upper limb movement was analyzed with a three-dimensional photogrammetry system. Convenience sample of 28 healthy volunteers, 40 patients with myotonic dystrophy (MD), 9 patients with facioscapulohumeral dystrophy (FSHD) and 14 patients with limb-girdle muscular dystrophy type 2A (LGMD2A). Spatio-temporal and kinematic variables were analyzed. RESULTS: Patients had lower velocity, cadence and shorter stride duration than healthy subjects. Gait and upper extremity kinematic variables suggested proximal muscular involvement in LGMD2A patients and distal muscular abnormalities in MD patients. The most characteristic finding in FSHD patients was related with dorsiflexor muscles' weakness. Some of the variables were also correlated to the patients' functional stage. CONCLUSIONS: This analysis allows the distinction of kinematic and spatio-temporal patterns of gait and upper extremity movement that correlate with muscular dystrophy's phenotype. The use of this analysis in the clinical setting to assess disease progression or the potential effects of treatments requires further studies.