[This page is intended to remind physicians of odd presentations and diagnoses, so that they can be thought of in the right clinical setting. The intention is not to give detailed descriptions of diseases but merely to bring to the attention of busy clinicians the well-hidden away and least talked about conditions so that they are not missed-source: Medline ]



Diabetic mastopathy. A clinicopathologic review.
Am J Clin Pathol. 2000 Apr;113(4):541-5.
Ely KA, Tse G, Simpson JF, Clarfeld R, Page DL.

Diabetic mastopathy, an uncommon form of lymphocytic mastitis and stromal fibrosis, typically occurs in longstanding type 1 diabetes. Nineteen cases meeting predetermined histopathologic criteria for diabetic mastopathy were correlated as to clinical history and disease recurrence. Physical examination revealed palpable discrete masses or diffuse nodularity, both predominantly in the subareolar region. One nonpalpable lesion was detected incidentally during reduction mammoplasty. All cases contained lymphocytic ductitis and lobulitis with varying degrees of keloidal fibrosis, vasculitis, epithelioid fibroblasts, and lymphoid nodule formation. Single mammary lesions were found in 11 patients with type 1 diabetes, 1 with type 2 diabetes, and 3 without diabetes. Four cases were bilateral (3 patients with type 1 and 1 patient with type 2 diabetes). Six of 19 cases recurred (3 ipsilateral, 2 contralateral, and 1 bilateral). We confirm the histopathologic constellation for diabetic mastopathy. However, we question the specificity of these features because of identical findings in patients with type 2 diabetes and nondiabetic patients. We found diabetic mastopathy in men and women, as a solitary mass or bilateral disease, and recurrence in either breast, sometimes multiple. Recognition of potential recurrence is important because it might spare patients with documented diabetic mastopathy from repeated breast biopsies.
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Skeletal muscle infarction in diabetes mellitus
J Rheumatol. 2000 Apr;27(4):1063-8
Grigoriadis E, Fam AG, Starok M, Ang LC.
Department of Medicine, Sunnybrook Health Science Centre, University of Toronto, Ontario, Canada.

OBJECTIVE: To analyze the risk factors, clinical features, and methods of diagnosis of diabetic muscle infarction (DMI). METHODS: Three patients with diabetes mellitus (DM) and skeletal muscle infarction were studied, and 49 additional cases reported in the English literature (Medline database search) were reviewed. RESULTS: Review of all 52 patients with DMI revealed a number of typical features: equal sex distribution; mean age 41.5 years (range 19-81 yrs); a number of risk factors [long duration of DM (mean 15.2 yrs), poor control and microvascular diabetic complications (neuropathy, retinopathy, nephropathy) (94%), and insulin dependent type I DM (77%)]; a characteristic clinical presentation with painful diffuse muscle swelling (100%); and sometimes a muscle mass (44%), predilection for quadriceps (62%), hip adductors (13%) and leg muscles (13%), elevated serum creatine phosphokinase (47%), abnormal sonograms (81%), abnormal magnetic resonance image (MRI) findings (100%), typical histopathologic findings of a muscle infarct (100%) (ultrastructural evidence of microangiography in one patient); and a tendency toward spontaneous resolution although recurrences are common (51%). CONCLUSION: Skeletal muscle infarction is a rare complication of long standing, poorly controlled DM associated with multiple end organ microvascular sequelae. Increased clinical awareness is important for early recognition, particularly in a diabetic patient presenting with a painful thigh or leg swelling. MR imaging is the diagnostic study of choice, and in the appropriate clinical setting, may obviate the need for a muscle biopsy.
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Clinical characteristics of emphysematous pyelonephritis.
J Microbiol Immunol Infect. 2001 Jun;34(2):125-30.
Tang HJ, Li CM, Yen MY, Chen YS, Wann SR, Lin HH, Lee SS, Liu YC.

Department of Internal Medicine, Chi-Mei Foundational Hospital, Taiwan, ROC.

A total of 21 patients (20 women and one man) with emphysematous pyelonephritis (EPN), treated in the Kaohsiung Veterans General Hospital during the period from 1991 through 1999 were included in this study. All of the patients were diabetic. The most common symptoms or signs were fever/chills (80%) and costovertebral angle knocking pain (71%). Diagnosis was confirmed by the presence of gas in the parenchyma or paranephric space on plain X-ray of the abdomen or computed tomography. The left kidney (11 cases, 52%) was more frequently affected than the right one (nine cases, 43%), and both kidneys were involved in one case. Obstruction of the corresponding renoureteral unit was found in 19% of the patients, and renal or ureteral stone was found in 23% of the patients. One third of the patients had type I EPN, and two-thirds had type II EPN. Escherichia coli was the most commonly isolated organism, accounting for 61%, 76%, and 47% of isolates from blood, urine, and aspirated pus culture respectively. Prompt control of blood sugar was begun and intravenous antibiotics were given. Drainage was performed in 71% of the patients, and two persons required nephrectomy because of poor control of the infection or complications. Overall survival was 72%. Emphysematous pyelonephritis is a rare, life-threatening, suppurative infection of the renal parenchyma and perirenaL tissues. For successful management of EPN, appropriate medical treatment should be initiated, and immediate nephrectomy or drainage should not be delayed.
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Acute emphysematous cholecystitis associated with pneumobilia: a case report.
Ohtani Y, Tanaka Y, Tsukui M, Goto K, Moriya H, Tobita K, Sekka T, Saito Y, Makuuchi H, Tajima T, Mitomi T.
Tokai J Exp Clin Med. 1996 Feb;21(1):33-6.
Second Department of Surgery, School of Medicine, Tokai University, Kanagawa, Japan.

This report describes a rare case of acute emphysematous cholecystitis with pneumobilia in the common bile duct. The patient was a 66-year-old woman with a part history of diabetes mellitus, and operations for gastric and breast carcinoma. The chief complaint was pain in the right hypochondrium with severe right hypochondrial tenderness and distention of the gallbladder detected on examination. Laboratory tests showed leukocytosis, marked elevation of CRP, jaundice, liver dysfunction, and hyperglycemia. Gas was detected in the gallbladder on plain abdominal X-rays and CT scans of the abdomen, and a small amount of gas was also observed in the common bile duct. On the day of admission, percutaneous transhepatic gallbladder drainage (PTGBD) was carried out under ultrasound guidance, and Clostridium perfingens and E. coli were detected in the bile. Imaging after PTGBD showed no cystic duct obstruction. On the 12th day after PTGBD, cholecystectomy and choledochotomy with primary closure were performed. The postoperative course was good and the patient was discharged on the 15th day after surgery.
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Infections of the head and neck in diabetes mellitus.
Infect Dis Clin North Am. 1995 Mar;9(1):195-216.
Tierney MR, Baker AS.

Harvard Medical School, Boston, Massachusetts, USA.

Patients with diabetes mellitus exhibit particular susceptibility to three severe infections of the head and neck: rhinocerebral mucormycosis, postoperative endophthalmitis, and malignant otitis externa. Rhinocerebral mucormycosis is an extensive life-threatening infection beginning in the nasal passages and sinuses and extending often into the orbit and the cerebrum. Endophthalmitis, which is infection of the vitreal contents, can occur secondary to bacteremia, trauma, or postoperatively. Invasive external otitis or malignant otitis externa is an invasive infection beginning in the adjacent soft tissue and into bone. It is usually secondary to Pseudomonas aeruginosa and occurs almost exclusively in diabetics. These will all be discussed in this article.
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Malignant otitis externa: a review.
Pac Health Dialog. 2002 Mar;9(1):64-7.
Bhandary S, Karki P, Sinha BK.

Majuro Hospital, P.O. Box 16, Marshall Islands, MH 96960, USA. sangitabhandary@hotmail.com

Malignant otitis externa is a rare but potentially fatal disease of the external auditory canal seen mostly among elderly, diabetic or immunocompramised patients. The causative organism is mainly Pseudomonas aeruginosa. The disease spreads rapidly, invading surrounding soft tissues, cartilage and bones causing their necrosis and even spreading to the cranial nerves. The disease can be fatal if treatment is not aggressive and timely, especially if it spreads outside the auditory canal with involvement of the cranial nerves. Treatment is mainly medical with antipseudomonal drugs like the third generation cephalosporin and the fluoroquinolones and local debridement. With aggressive treatment the mortality rate from this disease, which used to be 50% in the past has now been reduced to 10-20%. The pathophysiology of the disease, clinical presentation, diagnosis, treatment and the outcome has been discussed and reviewed.



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Ketosis-prone atypical diabetes mellitus.
Diabetes Metab. 2002 Feb;28(1):5-12. Related Articles,Links
Sobngwi E, Mauvais-Jarvis F, Vexiau P, Mbanya JC, Gautier JF.
Service de Diabetologie, Hopital Saint-Louis, Paris, France.

Diabetes is increasing with ageing and changes in lifestyle in populations of African ancestry as described in the first part of this review. Apart from classical type 1 and Type 2 diabetes, atypical presentations are observed in these populations, especially "tropical" and "ketosis-prone" atypical diabetes. Ketosis-prone atypical diabetes that has been classified by ADA as idiopathic Type 1 diabetes or Type 1b is the most common atypical form. It is characterised by an acute initial presentation with severe hyperglycaemia and ketosis, as classical Type 1 diabetes. In the subsequent clinical course after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies showed a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic B-cell autoimmunity is an exceptional finding. Association with type 1 susceptibility HLA alleles is variable. The molecular mechanisms underlining the insulin secretory dysfunction are still to be understood and may involve gluco-lipotoxicity processes, glucagon dysregulation, effect of stress, or may be genetically determined. The present review summarises the available clinical and metabolic features and suggests some pathogenetic hypotheses and principles of management for the ketosis-prone atypical diabetes of the Africans.

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Long-term normoglycemic remission in black newly diagnosed NIDDM subjects.
Diabetes. 1996 Mar;45(3):337-41.
Banerji MA, Chaiken RL, Lebovitz HE.

Department of Medicine, State University of New York Health Science Center at Brooklyn, New York 11203, USA.

We have defined and characterized the natural history of spontaneous near-normoglycemic remission off of antidiabetic medication in 79 black NIDDM subjects. They had initially presented with plasma glucose levels of 37.8 +/- 19.3 mmol/l. Baseline clinical metabolic and 8-year prospective data were obtained (51 men and 28 women, mean age 45 +/- 10 years, islet-cell or GAD antibody negative). After hospitalization and intensive outpatient treatment, near-normoglycemic remission (fasting plasma glucose 6.1 +/- 0.83 mmol/l and HbA1c 0.95 +/- 0.10 of upper limit of normal) occurred within 8 +/- 10 months of insulin or sulfonylurea therapy. This was unrelated to the resolution of stress or significant weight loss (1.9 +/- 4.97 kg). Metabolic studies performed during remission showed 17% normal, 33% impaired, and 50% diabetic glucose tolerance. Glucose disposal (1 mU x kg-1 x min-1) euglycemic insulin clamp with D-[3(-3)H]glucose) was higher in the normal glucose tolerance group compared with the impaired and diabetic groups (37.8 +/- 10.2 vs. 26.1 +/- 10.7 and 26.7 +/- 12.0 micromol x kg-1 x min-1; P < 0.05) despite similar BMIs in all three groups (28.8 +/- 3.7 kg/m2). Insulin secretion was below the normal range. Of 79 patients, 27 relapsed. A Kaplan-Meier survival analysis gives a median time of 40 months to relapse. Higher presenting plasma glucose and male sex predicted earlier relapse. Near-normoglycemic remission may occur in up to 30% of black new-onset NIDDM patients. It appears to be associated with intensive initial glycemic regulation and may be a method of decreasing the development of microvascular complications in NIDDM.

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Latent autoimmune diabetes of adulthood. Unique features that distinguish it from types 1 and 2.
Postgrad Med. 2005 Mar;117(3):7-12.
Nabhan F, Emanuele MA, Emanuele N.
Division of Endocrinology and Metabolism, Loyola University Medical Center, Maywood, Illinois 60153, USA. fnabhan@lumc.edu

A number of patients with poor glycemic control receive the diagnosis of type 2 diabetes despite the fact that they do not exhibit some of the traditional characteristics of the disease, such as obesity. A more accurate diagnosis for many of these patients is latent autoimmune diabetes of adulthood (LADA). In this article, Dr Nabhan and coauthors describe features that LADA has in common with type 1 and type 2 diabetes, as well as those that distinguish LADA from these more widely recognized forms of diabetes. The authors also describe the pathogenesis of the disease, potential complications, and treatment options
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Diagnosis and management of maturity-onset diabetes of the young.
Treat Endocrinol. 2005;4(1):9-18.
Timsit J, Bellanne-Chantelot C, Dubois-Laforgue D, Velho G.

Department of Immunology and Diabetology, Hopital Cochin, Paris, France. jose.timsit@cch.ap-hop-paris.fr

Maturity-onset diabetes of the young (MODY) is a dominantly inherited form of non-ketotic diabetes mellitus. It results from a primary defect of insulin secretion, and usually develops at childhood, adolescence, or young adulthood. MODY is a heterogeneous disease with regard to genetic, metabolic, and clinical features. All MODY genes have not been identified, but heterozygous mutations in six genes cause the majority of the MODY cases. By far MODY2 (due to mutations of the glucokinase gene) and MODY3 (due to mutations in hepatocyte nuclear factor-1alpha) are the most frequent. As with MODY3, all the other MODY subtypes are associated with mutations in transcription factors. The clinical presentations of the different MODY subtypes differ, particularly in the severity and the course of the insulin secretion defect, the risk of microvascular complications of diabetes, and the defects associated with diabetes. Patients with MODY2 have mild, asymptomatic, and stable hyperglycemia that is present from birth. They rarely develop microvascular disease, and seldom require pharmacologic treatment of hyperglycemia. In patients with MODY3, severe hyperglycemia usually occurs after puberty, and may lead to the diagnosis of type 1 diabetes. Despite the progression of insulin defects, sensitivity to sulfonylureas may be retained in MODY3 patients. Diabetic retinopathy and nephropathy frequently occur in patients with MODY3, making frequent follow-up mandatory. By contrast, other risk factors are not present in patients with MODY and the frequency of cardiovascular disease is not increased. The clinical spectrum of MODY is wider than initially described, and might include multi-organ involvement in addition to diabetes. In patients with MODY5, due to mutations in hepatocyte nuclear factor-1beta, diabetes is associated with pancreatic atrophy, renal morphologic and functional abnormalities, and genital tract and liver test abnormalities. Although MODY is dominantly inherited, penetrance or expression of the disease may vary and a family history of diabetes is not always present. Thus, the diagnosis of MODY should be raised in various clinical circumstances. Molecular diagnosis has important consequences in terms of prognosis, family screening, and therapy.
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MELAS--mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome--two cases confirmed by biochemical and molecular investigations. Differential diagnosis of stroke causes]
Neurol Neurochir Pol. 2002 May-Jun;36(3):457-70.
Mierzewska H, Mroczek K, Pronicki M, Pronicka E, Karczmarewicz E, Bartnik E, Zdzienicka E, Seniow J, Schmidt-Sidor B, Taraszewska A, Palasik W.
Zakladu Genetyki Instytutu Psychiatrii i Neurologii, Warszawa. mierzew@ipin.edu.pl

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome (MELAS) is a maternally inherited multisystem disease caused by mutations of the mitochondrial DNA. The characteristic clinical features are: encephalopathy manifesting as dementia and seizures, stroke-like episodes at young age (usually < 40), lactic acidosis and myopathy with ragged-red fibres. Other frequent manifestations include: sensorineural deafness, diabetes, hypoparathyroidism, peripheral neuropathy and cardiomyopathy. We present two patients with MELAS who were diagnosed 4 and 9 years respectively following the onset of the disease despite the characteristic clinical pictures. The differential diagnostics of inborn and acquired disorders causing stroke is included. We regard that mitochondrial diseases are still insufficiently known and are frequently misdiagnosed. The knowledge is indispensable for establishing diagnosis and accurate genetic counselling. Although there is no specific therapy for mitochondrial diseases to date, coenzyme Q and various vitamins as well as moderate degree exercise might be recommended.

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Kobberling-Dunnigan syndrome: a rare cause of generalized muscular hypertrophy.
Muscle Nerve. 1996 Jul;19(7):843-7.
Wildermuth S, Spranger S, Spranger M, Raue F, Meinck HM.
Department of Neurology, University of Heidelberg, Germany.

A 36-year-old woman presented with muscle hypertrophy (particularly of the calves) since puberty, occasional muscle cramps, a musculine habitus, and a loss of subcutaneous fat on limbs and trunk sparing her face, neck, and vulva. Multiple lipomas were found on her trunk, and acanthosis nigricans on her neck. Laboratory testing revealed hyperlipidemia and pathological glucose tolerance with hyperinsulinemia. Physical and laboratory findings are consistent with Kobberling-Dunnigan syndrome, a rare inherited form of lipoatrophy. The patient's mother had the same body habitus and insulin-dependent diabetes mellitus. These cases suggest that partial lipodystrophy also affects muscle and is a cause of genuine muscular hypertrophy.
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Wolfram (DIDMOAD) syndrome: report of two patients.
J Pediatr Endocrinol Metab. 2004 Oct;17(10):1461-4.
Lin CH, Lee YJ, Huang CY, Shieh JW, Lin HC, Wang AM, Shih BF.
Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.

We report a girl with Wolfram syndrome who presented with juvenile-onset diabetes mellitus when she was 4 3/12 years old. Optic atrophy and high frequency sensorineural hearing loss were found at 7 and 9 5/12 years of age, respectively. Her younger brother also developed Wolfram syndrome when he was 3 2/12 years old. Wolfram syndrome is also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). This syndrome is transmitted as an autosomal recessive trait and is a progressive neurodegenerative disorder. It should be considered in a diabetic patient with unexplained optic atrophy, hearing loss, or polyuria and polydipsia in the presence of adequate blood glucose control. Visual acuity should be checked annually in patients with juvenile-onset diabetes mellitus. Optic atrophy should be considered if visual acuity is impaired.
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The Alstrom syndrome: is it a rare or unknown disease?
Ann Ital Med Int. 2002 Oct-Dec;17(4):221-8.
Maffei P, Munno V, Marshall JD, Scandellari C, Sicolo N.
Dipartimento di Scienze Mediche e Chirurgiche, Universita degli Studi di Padova. pietromaffei@libero.it

The Alstrom syndrome is a rare, autosomal recessive disorder characterized by retinal degeneration, obesity, progressive hearing impairment, non-insulin-dependent diabetes mellitus and kidney and heart failure. Mental retardation is absent and the extremities are normal. The Alstrom syndrome gene located on chromosome 2, has been recently identified. The Alstrom syndrome involves multiple organ systems with a complex interaction between pathways. Phenotypic expression varies considerably, even within sibships. Manifestations observed in some, but not all, Alstrom syndrome patients include acanthosis nigricans, alopecia, short stature, scoliosis, kyphosis, hyperostosis frontalis interna, muscle dystonia, advanced bone age and subcapsular cataract. Other metabolic and endocrinological abnormalities have been described: hypothyroidism, hypogonadism, diabetes insipidus, growth hormone deficiency, hyperuricemia and hyperlipidemia. In the final stages of the disease, affected individuals exhibit progressive chronic nephropathy with eventual kidney failure. The most frequent causes of death include hepatic dysfunction and congestive heart failure secondary to dilated cardiomyopathy. We have summarized our personal clinical data and the information from the scientific literature on the topic in order to provide an up-to-date review on the Alstrom syndrome.

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A rare case of juvenile diabetes mellitus associated with APECED (autoimmune poly-endocrinopathy, candidiasis and ectodermal dystrophy) with strong X-linked familial inheritance]
Minerva Endocrinol. 1997 Jun;22(2):51-9.
[Article in Italian]
Iannello S, Campanile E, Cipolli D, Gallina M, Merola A, Puglisi S, Tabita V, Belfiore F.
Cattedra di Medicina Interna, Ospedale Garibaldi, Calania.

The polyglandular autoimmune syndromes (PGA) are well known and are distinguished into type I, type II and type III. PGAI, also called APECED (autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy), is an autosomal recessive disorder, appearing in childhood and typically characterized by hypoparathyroidism (unusual in PGAII and PGAIII) and adrenal insufficiency. In APECED, autoimmune destruction of the pancreatic beta cells with development of insulin-dependent type 1 diabetes is possible, but less frequent than in the other PGAs, especially PGAII. The pathogenesis of this unique autoimmune disease is unknown. No HLA association seems to exist and genetic studies have assigned the autosomal APECED locus to chromosome 21. The case of a 28-years-old female suggesting the diagnosis of APECED, is presented, characterized by psycho-somatic abnormal development, teeth alterations, post-puberal gonadal failure with dystrophic hypoplasia of external genitalia, previous vaginal candidiasis, a slowly developing juvenile brittle diabetes. Intestinal malabsorption induced by Giardia lamblia occurred (probably resulting, like candidiasis, from immunological anergy). A strong familiarity linked to female sex was noticed (the mother, a sister, the little nice and some maternal female cousins being affected) while the father and a brother were healthy. Diabetes seems to be characterized by early onset and severe complications. In this patient no organo-specific antibodies were detected and the only immunologic disorder was a small decrease of CD3 and CD4/CD8 ratio, both CD4 and CD8 being at the lower normal range. This patient (and her female maternal relatives) needs a long-term follow-up in order to evaluate the function of endocrine glands and to initiate early treatment for hormonal deficits, as well as to detect the non-endocrine components of disease.
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Update on autoimmune polyendocrine syndromes (APS).
Acta Biomed Ateneo Parmense. 2003 Apr;74(1):9-33.
Betterle C, Zanchetta R.
Clinical Immunology and Allergology, Department of Medical and Surgical Sciences, University of Padua, Padua, Italy. corrado.betterle@unipd.it

Autoimmune Polyendocrine Syndromes (APS) were initially defined as a multiple endocrine gland insufficiency associated to an autoimmune disease in a patient. Neufeld & Blizzard (1980) suggested a classification of APS, based on clinical criteria only, describing four main types. APS-1 is characterized by presence of chronic candidiasis, chronic hypoparathyroidism, Addison's disease. It is a very rare syndrome interesting young subjects correlating to different mutations of AIRE (AutoImmuneRegulator) gene on chromosome 21. APS-2 is characterized by presence of Addison's disease (always present), autoimmune thyroid diseases and/or type 1 diabetes mellitus. It is a rare syndrome interesting particularly adult females and associated to a genetic pattern of HLA DR3/DR4. Autoimmune thyroid diseases associated to other autoimmune diseases (excluding Addison's disease and/or hypoparathyroidism), are the main characteristics of APS-3. The different clinical combinations of autoimmune diseases not included in the previous groups are characteristics of APS-4. In this paper criteria for defining a disease as autoimmune are presented. Furthermore, the classification, epidemiology, pathogenesis, genetic, animal models, clinical features, laboratory's tests, imaging, therapy, recent progresses in understanding the APS and a detailed analysis of large group of our patients affected by different types of APS are proposed and discussed.
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Stiff-person syndrome associated with cerebellar ataxia and high glutamic acid decarboxylase antibody titer.
Intern Med. 2001 Sep;40(9):968-71.
Kono S, Miyajima H, Sugimoto M, Suzuki Y, Takahashi Y, Hishida A.
First Department of Medicine, Hamamatsu University School of Medicine.

Glutamic acid decarboxylase (GAD) is the main target of humoral autoimmunity in patients with insulin-dependent diabetes mellitus (IDDM) and stiff-person syndrome. We reviewed the case of a 46-year-old woman who had cerebellar ataxia before getting stiff-person syndrome and IDDM with high anti-GAD autoantibody titers. This was a rare case in which there were both the clinical symptoms of stiff-person syndrome and cerebellar ataxia. In western blot analysis her serum reacted with 65-kDa proteins from rat cerebellum, cerebral cortex, and spinal cord. Autoantibodies to GAD may cause functional impairment of gamma-aminobutyric acid (GABA) neurons in the spinal cord as well as in the cerebellum.

 

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