1/4. An unusual cutaneous T cell lymphoma presenting as leonine facies.We report an unusual case of a cutaneous T cell lymphoma with the clinical picture of leonine facies as the only skin symptom appearing during the first years of the disease. Small atypical lymphocytes with partly pleomorphic, partly indented cerebriform nuclei are present in the facial skin as well as in the peripheral blood and in the bone marrow. The lymphoma shows an indolent clinical behaviour without rapid progression of the disease. It shares features with both pleomorphic small/medium-sized T cell lymphoma and mycosis fungoides, but cannot be classified according to the criteria of the European Organization for research and Treatment of Cancer (EORTC) classification for Primary Cutaneous Lymphomas. At present the lymphoma has to be ranged among the group of so-called unspecified peripheral T cell lymphomas according to the proposal of the International lymphoma Study Group.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
2/4. Ring chromosome 20 syndrome with intractable epilepsy.Ring chromosome 20 (r[20]) syndrome is characterized by mild to moderate learning disability*, behavioural disorders, epilepsy, and various dysmorphic features. Although still considered rare, r (20) syndrome is being increasingly diagnosed. More than 30 cases have been described in the literature since 1976. Here we report an additional case of a 14-year-old male with r (20). He had moderate to severe learning disability and epileptic seizures manifesting at about 18 months of age. During the 13 years' follow-up period he showed intractable epileptic seizures, behavioural disorders, and mild dysmorphological features including microcephaly, strabismus, micrognathia, down-slanting eyelids, and ear abnormalities. Frequent episodes of atypical absence or non-convulsive status associated with electroencephalogram changes were seen in follow-up. He was treated with several classical and new antiepileptic drugs, including intravenous immunoglobulin, corticotropin, and vagal nerve stimulation, with unsuccessful control of seizures. Finally, surgical treatment (corpus callosotomy) was performed at the age of 13 years; severity of tonic seizures was diminished, but frequency was unchanged. Although his behavioural problems, e.g. hyperactivity, were mild in early childhood they became more severe when he was 11 years old. Aggressiveness, compulsiveness with self-injury, and panic attacks developed at the age of 13 years, and were more pronounced after callosotomy. This case report provides the first description of deterioration in psychological situation in patients with r(20) intractable epilepsy. The patient was diagnosed with r(20) syndrome after 13 years of clinical follow-up. karyotype analysis should, therefore, be performed in every patient with intractable epilepsy of unknown aetiology.- - - - - - - - - - ranking = 3keywords = behaviour (Clic here for more details about this article) |
3/4. Clinical features, dental findings and dental care management in osteogenesis imperfecta.This article reports the case of a child diagnosed with type III osteogenesis imperfecta, assessing the clinical features observed, with emphasis on the craniofacial, oral and dental findings, and describes the dental care management rendered for this special needs patient. The issues addressed and discussed throughout the paper shows that, as far as the oral health professionals are familiarized with the disease-specific clinical manifestations and the possible implications of this condition, there are no hindrances for a successful, high-quality dental and behavioural management.- - - - - - - - - - ranking = 1keywords = behaviour (Clic here for more details about this article) |
4/4. The cognitive and behavioural phenotype of Roifman syndrome.BACKGROUND: Roifman syndrome (OMIM 300258) is a multi-system disorder with a physical phenotype that includes Beta-cell immunodeficiency, intra-uterine and postnatal growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy and characteristic facial dysmorphism. So far, six cases, all boys, have been reported in the literature. Roifman postulated that the syndrome may be due to a mutation in an X-linked gene or an autosomal gene giving rise to a sex-limited trait, but the definitive pathogenetic mechanism has still not been elucidated. Very little is known about the cognitive and behavioural phenotype of Roifman syndrome and no standardized measures of cognitive abilities have been reported. methods: We report the seventh case of a boy with Roifman syndrome and present the first systematic documentation of the cognitive and behavioural phenotype of an individual with the syndrome. RESULTS: In spite of having been reported as appearing intellectually 'able', formal evaluation showed very significant intellectual disability and neuropsychological impairment across cognitive domains. CONCLUSIONS: The findings suggest that Roifman syndrome may be an example of an X-linked mental retardation syndrome (XLMRS).- - - - - - - - - - ranking = 6keywords = behaviour (Clic here for more details about this article) |