1/12. Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome).Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and seizures. Three patients, of 20 months to 12 years of age, were followed up for 3 years both clinically and by using brain magnetic resonance imaging (MRI). Our results suggest that in MPS III patients MRI findings, including atrophy and abnormal or delayed myelination, may precede the onset of overt neurological symptoms. The increasing neurological morbidity is accompanied by different degrees of progressive atrophic changes, mainly affecting the cerebral cortex and the corpus callosum. However, it appears that, across subjects, the rate of MRI changes is unrelated to the severity of the clinical phenotype. On this basis it could be argued that in MPS III the worsening of the neurological symptoms might not necessarily reflect only the progressive cerebral abnormalities detectable by MRI.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
2/12. Utilisation behaviour consequent to bilateral SMA softening.The case of patient CU, who presented with severe utilisation behaviour, eventually unaccompanied by psychometric signs of frontal involvement, is reported. He suffered from a bilateral stroke within the territory of the anterior cerebral artery. His arterial system was characterised by a unique variant, whereby the right anterior cerebral artery was missing and three trunks originated from the left anterior cerebral artery, each bifurcating into right and left branches. An occlusion of the middle trunk immediately before its partition gave rise to a symmetrical bilateral parasagittal lesion that damaged the supplementary motor areas (medial part of Brodmann's area 6), sparing the lateral regions including the premotor cortices, the corpus callosum and the gyri cinguli. The hypothesis is put forward that utilisation behaviour should be conceived as a double anarchic hand, and its interpretation should rest on the damaged balance between the premotor cortices, responsive to environmental triggers, and the supplementary motor areas, which modulate actions and inhibit them. The imbalance due to the lesion would result in the patients being left at the mercy of environmental stimuli, unable to inhibit inappropriate actions. This intra-frontal hypothesis accounts for the data presented and those from the literature better than the previously held fronto-parietal equipoise.- - - - - - - - - - ranking = 6keywords = behaviour (Clic here for more details about this article) |
3/12. Report of three cases of Alzheimer's disease with focal motor symptoms: clinical correlates of neuroimaging findings.We report clinical and neuroimaging findings for three patients suffering from Alzheimer's disease (AD) with focal motor symptoms. These patients initially showed cognitive deficits and subsequently featured myoclonus and awkward movements in the unilateral upper limb while progressing to paresis. paresis was noted in the unilateral upper limb. All patients held the unilateral arm flexed at the wrist and elbow, closely adducted to the body and the hand fisted and pronated. No signs of cerebellar ataxia, sensory disturbance or long tract signs were observed, nor any of the initial non-cognitive behavioural changes typical of frontotemporal dementia. EEGs of these patients showed marked slowing of basic activity without epileptic discharges. MRIs showed progressive brain atrophy in the contralateral frontoparietal lobes as well as the hippocampal formation. Cases 2 and 3 featured extensive long T2 lesions on MRI. 99mTc-HMPAO-SPECT revealed blood flow hypoperfusion in the corresponding regions. The cerebellum and brain stem showed neither morphological abnormalities nor blood flow hypoperfusion. On the basis of these clinical and neuroimaging observations, the focal motor symptoms were attributed to contralateral frontoparietal cortical atrophy with or without white matter lesion.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
4/12. A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation.We report on a female patient with severe mental retardation, dysmorphic features, deafness, spasticity, and behavioural problems in whom a 2.3 Mb duplication of 12q24.21q24.23 was detected by genome-wide tiling-path resolution array-based comparative genomic hybridization. Mental retardation, microcephaly, short stature, recurrent infections, hypotonia and facial features, such as hypertelorism, epicanthal folds, and a broad nasal bridge, were also described in patients with larger duplications overlapping the 12q24.21q24.23 region. The duplicated region contains 16 genes, of which several genes, such as thyroid hormone receptor associated protein 2, replication factor C5 and nitric oxide synthase 1, are expressed in the brain and/or are involved in embryogenesis. The current case shows that microduplications might be a more frequent cause of mental retardation and human malformation than previously appreciated.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
5/12. Direct duplication 16q11.116q13 is not associated with a typical dysmorphic syndrome. In this report we present a 3-year-old girl with partial trisomy of the long arm of chromosome 16 due to a direct duplication 16q11.1 q13 (karyotype: 46, XX, dir dup(16) (pter cen q11.1 q13::q11.1 q13::q13 qter]. She presented moderate mental retardation and severe hyperkinetic behaviour. Slight dysmorphic stigmata but no internal anomalies were found.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
6/12. Ring chromosome 4: Wolf syndrome and unspecific developmental anomalies.A new case of ring chromosome 4 in a 18-month-old girl is described. The patient presented extreme growth failure, psychomotor retardation, and some features of 4p deletion or Wolf syndrome. No significant loss of genetic material could be seen by G-banding technique (breakpoints p16q35). The ring was found to be unstable both in lymphocyte and fibroblast culture and a substantial proportion of aneuploid cells containing derivatives of the ring could be observed. An increased cell death-rate could be detected by cell viability determination with trypan blue in the first subculture of skin fibroblasts. It is suggested that this finding is a consequence of behavioural instability of the ring at mitosis existing probably in vivo as well. The clinical and cytogenetic findings in this patient were compared with those in the other 16 cases with ring 4 published so far. It is suggested that the phenotype in patients with this chromosomal anomaly is a mixture of phenotypic abnormalities generated by both the chromosomal deletion prior to ring formation (features of Wolf syndrome) and the behavioural instability of the ring at mitosis (unspecific developmental anomalies).- - - - - - - - - - ranking = 2keywords = behaviour (Clic here for more details about this article) |
7/12. Acute confusional states and depression treated with maprotiline mesylate. Report of 4 patients successfully treated in an intensive care unit.Four patients admitted to hospital with multiple injuries developed psychiatric symptoms after an initially favourable response to intensive therapy. Alterations in the level of consciousness and behavioural pattern were observed, associated with the presence of acute depression, possibly endogenous in origin. Within 24--48 hours of intravenous administration of maprotiline mesylate (Ludiomil, Ciba), a tetracyclic antidepressant drug, considerable improvement was noted in all 4 patients, with regard to both the depressive state and the clouding of consciousness. The importance of recognizing psychiatric disorders in severely ill patients in an intensive therapy environment is stressed.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
8/12. Infantile behavioural regression and respiratory impairment.Three girls showed psychomotor regression arising between the 1st and 2nd year of life, after an initially normal development. language, gait, chewing and swallowing were especially affected, whereas elementary sensory and motor functions were relatively spared. All displayed a particular disorder of breathing, which was irregular and inadequate during wakefulness, returning to normal during sleep. There are similarities between these patients and the syndrome of cerebral atrophy with hyperammonaemia, even though brain CT and biochemical studies, including ammonaemia, were all normal.- - - - - - - - - - ranking = 4keywords = behaviour (Clic here for more details about this article) |
9/12. Psychiatric problems in intensive care. Five patients with acute confusional states and depression.Five case histories are presented of patients with multiple trauma or severe infection, who developed psychiatric symptoms after an initially favourable response to intensive therapy. Alterations in the level of consciousness and behavioural pattern were observed, associated with the presence of acute depression, possibly primarily endogenous in origin. Following intravenous clomipramine administration, considerable improvement was noted in all five patients, regarding both the depressive state and the clouding of consciousness. The importance of recognising psychiatric disorder in severly ill patients in an intensive therapy environment is stressed.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
10/12. Severe frontal syndrome associated with infarcts of the left anterior cingulate gyrus and the head of the right caudate nucleus. A clinico-pathological case.The clinicopathological findings in a patient who presented a severe frontal syndrome and who had ischaemic lesions in the left anterior cingulate gyrus and in the head of the right caudate nucleus are reported. The clinical features included complex disorders such as distractibility, docility, emotional unconcern, manual grasping, prehension and utilization behaviour, perseverations and anterograde amnesia. They are closely similar to those previously described in a patient with bilateral lesions involving the anterior cingulate gyri. These findings suggest that (i) in the presence of a lesion of the anterior cingulate gyrus on one side, a lesion of the head of the contralateral caudate nucleus may be equivalent to a lesion of the anterior cingulate gyrus, the anterior cingulate gyrus--caudate complex working as a single functional unit; (ii) the anterior cingulate gyri (and anterior cingulate gyrus--caudate complexes) play a crucial role in the expression of frontal lobe functions; (iii) they are necessary for sustained goal-oriented responses to (emotionally or not) discriminated stimuli.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
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