Anti glutamate-decarboxylase antibodies: a liaison between localisation related epilepsy, stiff-person syndrome and type-1 diabetes mellitus.

We present two patients with partial epilepsy, type-1 diabetes and stiff person syndrome associated with high serum auto-antibody levels to glutamate-decarboxylase (anti-GAD). Both patients were or have suffered from additional autoimmune conditions. The presence of stiff person syndrome and elevated anti-GAD levels have to make clinicians look for additional autoimmune conditions including type-1 diabetes. On the other hand, the co-morbidity of partial epilepsy with autoimmune conditions in patients with elevated serum anti-GAD suggests an autoimmune mechanism of partial epilepsy in these cases.

LADA type diabetes, celiac diasease, cerebellar ataxia and stiff person syndrome. A rare association of autoimmune disorders.

Celiac disease--in its typical form--is a chronic immune-mediated enteropathy with typical clinical symptoms that develops against gliadin content of cereal grains, and is often associated with other autoimmune diseases. In cases of atypical manifestation classic symptoms may be absent or mild, and extra-intestinal symptoms or associated syndromes dominate clinical picture. The authors present a longitudinal follow-up of such a case. A 63-years old woman was diagnosed with epilepsy at the age of 19, and with progressive limb ataxia at the age of 36, which was initially thought to be caused by cerebellar atrophy, later probably by stiff person syndrome. At the age 59, her diabetes mellitus manifested with type 2 diabetic phenotype, but based on GAD positivity later was reclassified as type 1 diabetes. Only the last check-up discovered the celiac disease, retrospectively explaining the entire disease course and neurological symptoms. By presenting this case, the authors would like to draw attention to the fact that one should think of the possibility of celiac disease when cerebellar ataxia, progressive neurological symptoms and diabetes are present at the same time. An early diagnosis may help to delay the progression of disease and help better treatment.

[De Quervain thyroiditis. Corner points of the diagnosis]. / A szubakut de Quervain-thyreoiditis. A kórismézés sarokpontjai négy eset kapcsán.

Inflammatory disorders of the thyroid gland are divided into three groups according to their duration (acute, subacute and chronic). De Quervain's thyroiditis (also termed giant cell or granulomatous thyroiditis) is a subacute inflammation of the thyroid, which accounts for 5% of thyroid disorders. The etiology is unknown, it usually appears two weeks after an upper viral respiratory infection. The clinical feature includes neck pain, which is aggravated during swallowing, and radiates to the ear. On palpation, the thyroid is exquisitely tender. The erythrocyte sedimentation rate is markedly elevated, the leukocyte count, C-reactive protein are normal or slightly elevated. The natural history of granulomatous thyroiditis involves four phases: the destructive inflammation results temporarily in hyperthyroidism followed by euthyroidism. After a transient hypothyroidism the disease becomes inactive and the thyroid function is normalised. Ultrasonographic findings are diffuse hypoechogenic structures, but nodules may also occur. The disease often remains unrecognised, or the first phase of the disease is diagnosed and treated as hyperthyroidism. The diagnosis can be confirmed by the presence of the thyroid autoantibodies, radioiodine uptake and fine needle aspiration cytology. There is no special treatment, non-steroid anti-inflammatory drugs or steroid should be given to relieve the pain. The aim of the authors is to shed light the key points of diagnosis and differential diagnosis by the presentation of four slightly different cases.

[Wernicke encephalopathy accompanying linitis plastica]. / Wernicke-encephalopathia linitis plasticában.

Wernicke encephalopathy (or Wernicke-Korsakoff encephalopathy) is a rarely diagnosed neurological disorder, which is caused by vitamin B1 deficiency. In the classical form it is characterized by a typical triad (confusion, oculomotor disturbance and ataxia), however, in the majority of the cases only confusion is present. It can be frequently observed in subjects with chronic alcohol consumption, but it may accompany different pathological states of which end stage malignant diseases are the most importants, where confusion may have different backgrounds. The authors present the case of an old male patient with advanced gastric cancer recognised and treated vitamin B1 deficiency, and they draw attention to difficulties of the diagnosis of Wernicke's disease.

[Comparison of the effectiveness of two internationally recommended screening methods for the diagnosis of gestational diabetes]. / A gestatiós diabetes szurésére ajánlott két nemzetközi eljárás hatékonyságának összehasonlítása.

INTRODUCTION: Early diagnosis and adequate care of gestational diabetes is of great importance for both the mother and her fetus. Although several national and international guidelines are known on the methodology for screening gestational diabetes, a not negligible part of the cases remain unrecognized when applying even the most widely used criteria recommended by the World Health Organization (1st recommendation). A connection has been found between the maternal blood glucose values and the prevalence of still-birth, preeclampsia and large for gestational age neonates in several studies, from which the Hyperglycaemia and Adverse Pregnancy Outcomes study has come into prominence. According to conclusions of this study the International Association of Diabetic Pregnancy Study Groups suggested new numeric criteria for the evaluation of the 75-gram oral glucose tolerance test (2nd recommendation), which differs from the evaluation used in the aforementioned screening system. AIMS: The aim of the study was to compare the effectiveness of the two screening systems by evaluation of the pregnancy outcomes. METHODS: By following non-twin pregnancies of 1107 pregnant mothers (831 with normal glucose tolerance, 276 with gestational diabetes based on any of the applied screening methods) the maternal (pre- and post-term birth, caesarean section, toxaemia) and newborns pregnancy outcomes (infants small and large for gestational age, hypoglycaemia) were analysed. RESULTS: With the exception of the prevalence of large for gestational age infants - which was higher among women screened by the new evaluation - no substantial difference in the efficacy of the two investigated methods was found. CONCLUSION: The decision whether the screening of gestational diabetes using the new criteria results in safer recognition of the disturbances of glucose metabolism during pregnancy requires further investigations including a large number of cases.

[A case of glucose-sensitive insulinoma accompanied by slightly elevated serum insulin levels and persisting convulsions after the surgically removed neuroendocrine tumor]. / Glükózszenzitív insulinoma mérsékelten emelkedett széruminzulinszinttel, eltávolítása után is fennmaradó epilepsziás rohamokkal.

Insul(in)oma is a usually solitary or, in some cases, multifocal tumor of pancreatic beta cells. It may be a component of multiple endocrine neoplasia type 1. or von Hippel-Lindau syndrome. In typical forms the diagnosis - based on the Whipple triad - is simple, however, it may be difficult to recognize in cases with near normal or only slightly elevated serum insulin levels, as well as in patients with known convulsive episodes. With the case presentation of an 81-year-old woman the authors draw attention to the pitfalls of the correct diagnosis. A special feature of the presented case is that convulsions persisted after surgical removal of the pancreatic neuroendocrine tumor verified with functional and imaging methods. Recurrent or residual tumor was not found, and morphological damage of the brain was absent. In the background of the continuing convulsions cerebrovascular alterations as well as the cytotoxic effect of the hypoglycemia-induced excessive glutamate production can be postulated.

[Multiple hepatic abscesses due to actinomycosis: difficulties of diagnosis]. / Multiplex májtályog képében jelentkezo actinomycosis esete: a kórismézés nehézségei.

Authors present the case of a 65 year-old man without any remarkable previous illness, hospitalized because of having prolonged fever caused probably by an infection due to a tick bite. Tularaemia and bartonellosis based on serological results as well as neoplasm of the sigma with multiple metastases to the liver raised by ultrasonography and abdominal CT could be excluded with detailed investigations. Multiple abscesses of the liver were diagnosed, followed by a percutaneuos ultrasonography directed aspiration of one of the abscesses which resulted in 150 ml buffy pus. Microbiological examination evaluated the presence of Actinomyces meyeri. Instead of neoplasm, diverticulosis and diverticulitis of the sigma could be clarified with perforation of one of the diverticuli causing peridiverticulitis, retroperitoneal abscess and probably abscesses in the liver by haematogenous dissemination. Surgical intervention, resection of the liver and the sigma resulted in recovery of the patient. Difficulties of diagnosis are discussed in the article pointing out the importance of interdisciplinary collaboration, involving also infectologist. Diverticulosis of the sigma as presumably origin of hepatic actinomycosis is a literary curiosity. This was the cause of the case presentation.

[Verrucous carcinoma of the anal margin. The importance of adequate biopsy technique]. / Verrucosus analis carcinoma (Buschke-Löwenstein-tumor): a körültekinto biopsziás mintavétel jelentosége.

Buschke-Löwenstein tumor (verrucous carcinoma, giant condylomata) of the anal margin is a locally invasive, destructively growing carcinoma that does not metastasize. The lesions are rare despite the increased incidence of anal condylomata and anal carcinomas. Authors report a case of a 63-year-old woman suffering from verrucous carcinoma (Buschke-Löwenstein tumor) of the anal margin. The tumor invaded the rectal sphincter and extended beyond the muscle, infiltrating the lower abdomen. Infiltration of the perivesical soft tissue caused bilateral hydronephros. Because both under- and overdiagnosis of anal cancer and precancer may lead to inappropriate treatment, it is important to perform adequate sampling for histology. Non-representative superficial biopsies may result underdiagnosis of the disease.