A survey was made of the thyroid function of 402 mentally handicapped patients in a long-stay hospital and its satellite units. The prevalence of hypothyroidism in a 2-year period was 25/402 (6.2%), and 17/364 (4.7%) when people with Down's syndrome were excluded. Hyperthyroidism was found in 3/402 (0.7%). These results include 16 patients with hypothyroidism, and two with hyperthyroidism, who were newly detected during the surgery. With diagnosis, treatment was started. This occurrence of thyroid disorders is higher than in both the general population in the community and also in other psychiatric in-patients. Biochemical investigation is essential as the disorders are difficult to detect clinically, and untreated the patients are liable to the complications of hypothyroidism and hyperthyroidism.
Motor neurone disease, or amyotrophic lateral sclerosis, is a serious progressive neurological disorder, characterized by loss of UMN and LMN. Pathological features include characteristic intracytoplasmic MN inclusion bodies and appearances on ubiquitin staining. The aetiopathogenesis of the disease remains unknown and there is, to date, no effective treatment. Several abnormalities have been demonstrated in neurotransmitter, neuropeptide and gene expression studies. Abnormalities in glutamate metabolism have led to the excitotoxin hypothesis of MN destruction. Other theories include deficits in MN trophic factors, trans-synaptic degeneration, impaired ability to detoxify putative toxic agents and impaired DNA/RNA metabolism. The existence of familial forms, some of which show linkage to markers in chromosome 21, allows a genetic approach to the mechanisms of disease. Recent studies suggest that mutations in the Cu/Zn SOD gene may be important in some of the familial forms. The atypical forms seen in the Western Pacific have stimulated a search for environmental agents. Agents undergoing therapeutic trials at present include CNTF, IGF1 glutamate antagonists, branched-chain amino acids and TRH analogue.
Limbic encephalitis is associated with various tumours and antibodies. We describe a 33-year-old man with progressive cochleovestibular symptoms, cerebellar ataxia, myoclonus and antibodies against Kelch-like protein 11 (KLHL11). MR scan of the brain showed hippocampal T2 hyperintensities. FDG PET scan was normal. Biopsy of his enlarged left testes showed fibrosis without neoplasia. Immunotherapy so far has not helped significantly.
PICTURE Cerebral venous thrombosis in Behçet's diseaseA 22 year old man presented acutely with blurred vision and headache.He had recurrent oral (top left) and genital ulcers (top middle), erythema nodosum (top right), and a positive pathergy test, fulfilling the criteria for Behçet's disease.There was bilateral papilloedema, and a CSF pressure of 45 cm H 2 O. Plain head CT showed a dense triangle (arrow, bottom left) and an empty delta sign after contrast (arrow, bottom middle), suggestive of a superior sagittal sinus thrombosis.Magnetic resonance venography showed a flow void consistent with thrombosis within the superior sagittal and left lateral sinuses (arrowheads and arrow respectively, bottom right).
Riedel's invasive fibrous thyroiditis (IFT) is a rare disease of unknown etiology characterized by a dense fibrosis involving the thyroid gland and its surrounding tissues. Clinically, patients present with a stony hard goiter frequently associated with compressive symptoms. Involvement of the surrounding neck structures by IFT can lead to various clinical sequelae. We report the case of a 55-year-old woman with known IFT who developed thrombosis in the right internal jugular vein that progressed to the right sigmoid, transverse, and superior sagittal sinuses. IFT could have predisposed to cerebral venous sinus thrombosis by causing venous stasis, vascular damage and possibly a hypercoagulable state. To our knowledge, this is the first report of cerebral venous sinus thrombosis that developed as a complication of IFT.
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