Résumé
@#Stiff person syndrome is a rare neurologic disorder characterised by rigidity of the truncal and proximal limb muscles with intermittent superimposed spasms. It’s unique because it lacks similarity to any other neurologic disorder. Possibly tetanus is the closest related condition with both inhibiting central gamma-aminobutyric (GABA) systems. Stiff person syndrome is extremely rare with less than 20 cases reported from South Asia which has a population of nearly 2 billion. In its classic form, it is associated with the presence of high titres of glutamic acid decarboxylase (GAD) antibodies. Paraneoplastic stiff person syndrome comprising of around 5% of the patients has been reported with malignancies of the breast, colon, lung, thymus and Hodgkin’s lymphoma. Antibodies against amphiphysin and gephyrin are detected in paraneoplastic stiff person syndrome. We report a 58 year old Sri Lankan male with stiff person syndrome with a high GAD antibody titre and classical electromyographic changes, who was found to have an underlying carcinoid tumour. We postulate that stiff person syndrome was a paraneoplastic phenomenon secondary to the carcinoid in this case. Although neurological syndromes such as sensory neuropathy, limbic encephalitis and, myelopathy have been described as paraneoplastic features in carcinoid, we believe this is the first report of stiff person syndrome associated with carcinoid tumour.
Résumé
Background & objectives: There has been a rise in the incidence of diabetes mellitus in the younger population of India. There are limited data available on the immunological profile of youth onset diabetes mellitus (DM) especially in type 2. Therefore, this study was undertaken to evaluate the clinical and immunological profile of youth onset DM in north India. Methods: Fifty one consecutive patients of 8-35 yr of age with diabetes mellitus attending the Lok Nayak Hospital, Maulana Azad Medical College, New Delhi, and Hormone Care and Research Center at Ghaziabad, Uttar Pradesh, India, were included in the study. All subjects were tested for glutamic acid decarboxylase (GAD), an islet cell antigen ICA512/IA2, and insulin antibodies. GAD and ICA512/IA2 were done by ELISA and insulin autoantibodies were tested by radioimmunoassay (RIA) method. These patients were also screened for hepatitis A to E, cytomegalovirus (CMV) and Epstein-Barr virus (EBV) as trigger factors for onset of type 1 DM. Results: of the total 51 patients, 38 were men and 13 were women. The mean age and BMI of the subjects was 19.7 (±7) years and 21 (± 5) kg/m2, respectively. Twenty patients were below the age of 18 yr and their height was more than 75th percentile of Indian standards. All patients were symptomatic and 12 of these presented with ketoacidosis. only 48 per cent (n=24) were positive for GAD, 14 per cent (n=7) for ICA512/IA-2, and 28% (n=14) were positive for insulin antibody. Five of these patients had evidence of hepatitis E virus infection. None of the subjects had evidence of active CMV or EBV infection. Interpretation & conclusions: About half of the youth onset diabetes mellitus patients from north India had presence of pancreatic autoimmunity in the form of GAD, ICA512/IA2, and insulin antibodies or a combination of antibodies suggestive of having type 1 DM. Further studies need to be done on a large sample size in different parts of the country.
Résumé
Background & objectives: Several autoimmune disorders have been reported to be associated with autoimmune thyroiditis and may coexist with other organ-specific autoantibodies. The aim of the present study was to evaluate the presence of tissue transglutaminase (anti-TTG) and glutamic acid decarboxylase (anti-GAD) antibodies in patients suffering from autoimmune thyroiditis as diagnosed by anti-thyroid peroxidase (anti-TPO) antibodies, which may indicate high risk for developing celiac disease or type 1 diabetes mellitus. Methods: Five thousand children and 2800 adults were screening as part of a general health examination done on a voluntary basis in four different parts of Delhi. A total of 577 subjects positive for anti-TPO antibody constituted the cases. Equal number of age and sex matched anti-TPO antibody negative controls were randomly selected from the same cohort to form paired case control study. The cases and controls were further divided into two groups as follows: group-1 (children and adolescent <18 yr), group-2 (adults >18 yr). Serum samples of cases and controls were analysed for thyroid function test (FT3, FT4, and TSH), anti-TTG and anti-GAD antibodies. Results: A total of 1154 subjects (577 cases and 577 controls) were included in this study. Hypothyroidism was present in 40.2 per cent (232) cases compared to only 4.7 per cent (27) in controls (P<0.001). Anti-TTG and anti-GAD antibodies were present in 6.9 and 12.5 per cent subjects among cases compared to 3.5 per cent (P=0.015) and 4.3 per cent (P=0.001) in controls, respectively. Only anti-GAD antibody were significantly positive in cases among children and adolescents (P =0.0044) and adult (P=0.001) compared to controls. Levels of anti-TTG and anti-GAD antibodies increased with increasing titre of anti-TPO antibody. Interpretation & conclusions: Our findings showed high positivity of anti-GAD and anti-TTG antibodies among subjects with thyroid autoimmunity. It is, therefore, important to have high clinical index of suspicion for celiac disease or type 1 diabetes mellitus in patients with autoimmune thyroiditis.
Résumé
Background:Insulin dependent diabetes mellitus(IDDM) is known to be a disease characterized by a deficiency of insulin caused by destruction of the pancreatic beta-cells. It has been suggested that the clinical and immunological characteristics of IDDM in Korean are different from those of Caucasian. This study was undertaken to investigate the clinical characteristics and the prevalence of autoimmune markers in type I diabetic children and their prediabetic siblings in Korea. METHODS:Insulin autoantibody(IAA), antiglutamic acid decarboxylase(Anti-GAD) antibody, thyroid autoantibodies such as antithyroid antibody(ATA) and antimicrosomal antibody(AMA), and rheumatoid facter(RF) in 54 type I diabetic children have been measured. Diabetic autoimmune antibodies were also measured in 48 siblings. RESULTS: 1)Clinical characteristics of type I diabetic children were that age of onset was 8.6+/-4.4 years, duration of diabetes was 4.1+/-3.3 years. C-peptide at onset of diabetes was fasting 0.7+/-0.5ng/ml, and postprandial 1.2+/-0.5ng/ml, and HbA1c was 12.5+/-4.3%. 2)The positivity of IAA and anti-GAD antibody of type I diabetic children was 74% and 50% respectively. ATA and AMA positivity of type I diabetic children was 3.7% and 5.6%. however RF was not detected at all. Among the diabetic siblings, 48 persons for anti-GAD antibody, 21 for IAA, 27 for ICA were measured but 1 case was positive for IAA. 3)Clinical characteristics of type I diabetic children were not specific different between IAA and anti-GAD antibody positivity. But the mean age of onset of type I diabetic children was younger in case of both positivity of IAA and anti-GAD antibody than both negativity(7.8 vs 11.4 years old, P<0.05). 4)A case in whose brothers are diagnosed as IDDM has shown that autoantibody of elder brother was positive in both IAA and anti-GAD antibody, and younger brother was also strongly positive in IAA. Another case in whose sisters were IDDM, has shown that, while elder sister was positive in IAA, younger sister strongly positive in both IAA and anti-GAD antibody. 5)In a case of identical twin brother, the elder is type I diabetic child and the younger is normal, elder brother's onset of age was 6 years and 8 months old, and titer of anti-GAD antibody was measured as strong positive. Both ICA and anti- GAD antibody were negative in normal younger brother. First phase insulin release in IV GTT and the insulin levels in oral GTT showed reduction from the normal level in normal brother, and repeat check up showed normal ranges but on-going study is needed under observation. CONCLUSION: The prevalence of autoantibody positivity of type I diabetic children of Korea in this study were IAA 74%, and anti-GAD antibody 50%. Cases with both IAA and anti-GAD antibody positive were shown to be earlier onset. Though titers of auto-antibody in IDDM twins, brothers and sisters were strongly positive, auto-antibodies in siblings of IDDM patients were detected only one case with IAA positive(0.47%). We suggest that the pathogenesis of IDDM in Korean is different from foreign countries in terms of prevalence of autoimmune antibodies and more numbers of diabetic siblings should be tested for further study.