Claude's syndrome associated with neurocysticercosis

Claude's syndrome is a distinctive brainstem syndrome characterized by ipsilateral third cranial nerve palsy with contralateral hemiataxia and is due to an intrinsic or extrinsic lesion in the midbrain. We report a case of Claude's syndrome caused by neurocysticercosis infection. A 68 year-old Asian man was admitted to our hospital because of ataxia, left ptosis, and diplopia. Brain magnetic resonance imaging (MRI) showed a cystic lesion in the midbrain, which was surrounded by ring enhancement and peripheral edema. Neurocysticercosis infection was diagnosed by the cerebral spinal fluid study. The patient was treated with albendazole and steroids. A follow-up brain MRI three months later demonstrated the disappearance of a surrounding brain edema and rim enhancement. The most common cause of Claude's syndrome is cerebrovascular disease and malignancy. However, there is no report caused by neurocysticercosis infection. Therefore, if we encounter Claude's syndrome, we should consider neurocysticercosis infection as one of the etiologic factors.     

Plasma exchange in Goodpasture syndrome associated with Turner's syndrome: A case report

Background

Good pasture syndrome (GPS) has been paid much attention recently for the dangerous illnessand high mortality.

Objective

To investigate the efficiency of plasma exchange (PE) to treat Goodpasture syndrome (GPS) in children associated with Turner''s syndrome.

Method

We report a case of a 15 year old female with GPS and Turner''s syndrome. The patient has intermittent fever and cough for 45 days and oliguria for 6 days. Turner''s syndrome was determined through blood karyotype analysis, and GPS was diagnosed because the patient was negative for antinuclear antibodies and antineutrophil cytoplasmic antibodies (ANCA), but positive for anti-glomerular basement membrane (anti-GBM) antibodies (200 RU/ml). PE was carried out in combination with immunosuppression therapy.

Results

The results show PE treatment can efficiently decrease the levels of anti-GBM antibodies. The antibody levels were >200 RU/ml and 184 RU/ml before and after the first PE treatment, respectively. The removal efficiency were 40%, 47%, 42%, 54%, 52% for the fifth, sixth, seventh, eighth and ninth PE procedures, respectively.

Conclusion

The therapy with PE, hemodialysis, pulse methylprednisolone followed by oral prednisone and cyclophosphamide greatly contributed to improvement of this patient''s condition, and resolved the patient''s pulmonary haemorrhage. All these results demonstrate that PE contributed efficiently to the treatment for GPS in children.     

Waldenstrom's macroglobulinemia associated with Hodgkin's lymphoma: a case report

Waldenstrom''s macroglobulinemia/lymphoplasmacytic lymphoma (WM/LPL) is a low-grade B-cell non-Hodgkin''s lymphoma with an indolent clinical course. Higher-grade non-Hodgkin lymphoma (NHL) and therapy-related myelodysplasia/acute leukemia (t-MDS/AML) have been reported in patients with WM/LPL in previous studies. However, only two cases with WM/LPL were reported to develop to Hodgkin lymphoma (HL). Here, we report the first case of WM/LPL who developed classical HL simultaneously 3 years after initial nucleoside analog-based chemotherapy.     

Lemierre's syndrome: An often missed life-threatening infection

Lemierre''s syndrome is an uncommon, but fatal infection of the internal jugular vein (IJV) that is usually caused by Fusobacteirum necrophorum although a wide range of bacteria has been reported as causative agents. Typical symptoms include fever, sore throat, neck swelling, pulmonary symptoms and arthralgia; however, the diagnosis of this infection is frequently overlooked as initial manifestation might be subtle and non-specific. Definite diagnosis requires positive blood culture and radiological evidence of thrombus in the IJV. We describe a case of a patient with Lemierre''s syndrome who was initially misdiagnosed with viral upper respiratory tract infection. High index of suspicion is pivotal to the diagnosis of this infection and Lemierre''s syndrome should always be considered as a potential cause of sepsis in an otherwise healthy patient.     

An unusually dry story

We present a middle-aged woman with a prior history of central nervous system (CNS) demyelinating disorder who presented with an acute onset quadriparesis and respiratory failure. The evaluation revealed distal renal tubular acidosis with hypokalemia and medullary nephrocalcinosis. Weakness persisted despite potassium correction, and ongoing evaluation confirmed recurrent CNS and long-segment spinal cord demyelination with anti-aquaporin-4 antibodies. There was no history of dry eyes or dry mouth. Anti-Sjogren''s syndrome A antigen antibodies were elevated, and there was reduced salivary flow on scintigraphy. Coexistent antiphospholipid antibody syndrome with inferior vena cava thrombosis was also found on evaluation. The index patient highlights several rare manifestations of primary Sjogren''s syndrome (pSS) as the presenting features and highlights the differential diagnosis of the clinical syndromes in which pSS should be considered in the Intensive Care Unit.     

Weil's disease (leptospirosis) manifesting as fulminant hepatic failure: Report of an autopsy case

We report an autopsy case of a 60-year-old man with Weil's disease who died of fulminant hepatic failure. Ante-mortem blood culture yielded the growth of Leptospira interrogans (serovar icterohaemorrhagiae). At autopsy, the liver weighed 1210 g and showed a typical appearance of “acute yellow liver atrophy”. Zone 3 (centrilobular region) showed submassive necrosis of hepatocytes accompanied by marked hemorrhage. Hepatocytes in zones 1 and 2 were well preserved, and the leptospira antigen was immunohistochemically demonstrated in several hepatocytes. Dissociation of liver cell plates was not observed. An immunohistochemical study demonstrated that CD31-positive, sinusoidal endothelial cells had almost completely disappeared in zone 3. This finding suggested that severe and selective damage to endothelial cells in zone 3 was the main cause of the submassive hepatocellular necrosis, which led to fulminant hepatic failure in the present case.     

Sirenomelia (symelia apus) with Potter's syndrome in connection with gestational diabetes mellitus: a case report and literature review

We report one case of a fetus of sirenomelia sequence with Potters syndrome which showed oligohydramnios and symelia apus. The infant showed absent urinary tract and external genitalia, the legs were fused by skin and had separate bones associated with Potter's syndrome. The mother had a history of gestational diabetes mellitus.     

An unusual case of spontaneous remission of Hodgkin's disease after a single cycle of COPP-ABV chemotherapy followed by infectious complications

Advanced Hodgkin's disease is usually treated with six or more cycles of combination chemotherapy. Spontaneous regression of the cancer is very rarely reported in patients with Hodgkin's disease. We present an unusual case of a patient with Hodgkin's disease who experienced complete remission with a single cycle of chemotherapy, followed by pneumonia. The case was a 36-year-old man diagnosed with stage IVB mixed cellularity Hodgkin's disease in November 2000. After treatment with one cycle of COPP-ABV (cyclophosphamide, vincristine, procarbazine, prednisone, doxorubicin, bleomycin, and vinblastine) chemotherapy without bleomycin, the patient developed interstitial pneumonia and was cared in the intensive care unit (ICU) for two months. Follow-up chest computerized tomography (CT), performed during the course of ICU care, revealed markedly improved mediastinal lymphomatous lesions. Furthermore, follow-up whole body CT and 18-fluorodeoxyglucose positron emission tomography showed complete disappearance of the lymphomatous lesions. Four years later, the patient is well and without relapse. This report is followed by a short review of the literature on spontaneous regression of Hodgkin's disease. To the best of our knowledge, this is the first case report of spontaneous remission of Hodgkin's disease in Korea.     

Lemierre's syndrome presenting with septic shock

Lemierre''s syndrome is a rare condition characterized by septic thrombophlebitis of the internal jugular vein and metastatic abscesses following oropharyngeal infection. Though classically caused by Fusobacterium necrophorum, a number of other causative organisms have been reported in literature. We report a case of Lemierre''s syndrome following parapharyngeal abscess due to staphylococcus aureus which progressed to septic shock.     

Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II

Autoimmune polyendocrine syndrome Type II (APS II), also known as polyglandular autoimmune syndrome Type II or Schmidt syndrome, is constellations of multiple endocrine gland insufficiencies. It is a rare, but most common of the immunoendocrinopathy syndrome. It is characterized by the obligatory occurrence of autoimmune Addison''s disease in combination with thyroid autoimmune diseases and/or Type I diabetes, hypogonadism, hypophysitis, myasthenia gravis, vitiligo, alopecia, pernicious anemia, and celiac disease. Here, we report a case of 38-year-old female patient presented with shock, further diagnosed to have APS II.     

The population prevalence of Down's syndrome in England and Wales in 2011

There is uncertainty over the population prevalence of people with Down''s syndrome in England and Wales. This study aimed to estimate the population prevalence of Down''s syndrome in England and Wales in 2011. A meta-analysis of published survival rates of people with Down''s syndrome from 1938 to 2010 was conducted and the results were applied to the estimated numbers of babies born with Down''s syndrome since 1938 in England and Wales. An estimated 37 090 people had Down''s syndrome in England and Wales in 2011, a population prevalence of 0.66 per 1000 people; 650 under 1, 2673 aged 1–5, 7115 aged 5–18, 12819 aged 19–40, 10 626 aged 41–55 and 3207 aged 56 and older. The average life expectancy for babies with Down''s syndrome born in 2011 was 51 years and the median life expectancy was 58 years. This study provides clarity on the number of people with Down''s syndrome in England and Wales. Owing to sudden increases in the survival of babies with Down''s syndrome in the 1950s there are a large proportion of people with Down''s syndrome who are in their 40s. These people have an increased risk of developing dementia in the future and services should be aware of their potential needs.     

Caroli's syndrome with autosomal recessive polycystic kidney disease in a two month old infant

Caroli's syndrome is a rare congenital disorder that involves intrahepatic bile duct ectasia and congenital hepatic fibrosis, frequently seen with concomitant autosomal recessive polycystic kidney disease (ARPKD). Literature on infants with ARPKD is rare. Here, we present a case of a two month old boy who was diagnosed with Caroli's syndrome and ARPKD.     

A case of reactive plasmacytosis mimicking multiple myeloma in a patient with primary Sjogren's syndrome

Primary Sjogren's syndrome (pSS) is a chronic autoimmune disease with well-documented association of lymphoid malignancies during the progress of the disease. Although several types of malignancy and pseudomalignancy have been reported in pSS, low-grade non-Hodgkin's lymphomas are the most frequently observed. Reactive plasmacytosis mimicking myeloma is a very rare condition in association with pSS. We describe a 72-yr-old woman with pSS who presented with hypergammaglobulinemia, and extensive bone marrow and lymph node plasmacytosis, which mimicked multiple myeloma. In this patient, there was an abnormal differentiation of memory B cells to plasma cells in the peripheral blood suggesting underlying pathogenetic mechanism for this condition.     

Recurrent syncope and hypocalcaemic cardiomyopathy as manifestations of Fahr's syndrome

In our report we would like to present a case of a 60-year-old patient with epileptic seizures, affective disturbances, only mild neurocognitive disorders and cardiomyopathy. A female patient was taken to the internal ward with a tentative diagnosis of recurrent syncope. Laboratory results disclosed severe hypocalcaemia, hypoparathyroidism, and hypothyroidism. An echocardiogram revealed left ventricle systolic dysfunction. Computed tomography revealed massive intracranial calcifications typical for Fahr''s syndrome. Our patient demonstrated only mild neurological and psychiatric symptoms, but developed hypocalcaemic heart failure. It is possible that some cases of Fahr''s syndrome remain undiscovered, particularly patients taken to internal wards with mild neurological or psychiatric signs.     

A case of concomitant Gilbert's syndrome and hereditary spherocytosis

We describe moderate hyperbilirubinemia in a 28-year-old man who suffered from gallstones and splenomegaly, with combined disorders of hereditary spherocytosis (HS) and Gilbert''s syndrome (GS). Since it is difficult to diagnose HS in the absence of signs of anemia, we evaluated both the genetic mutation in the UGT1A1 gene and abnormalities in the erythrocyte membrane protein; the former was heterozygous for a UGT1A1 allele with three mutations and the latter was partially deficient in ankyrin expression. This is the first report of the concomitance of HS and GS with three heterozygous mutations [T-3279G, A (TA)7TAA, and G211A] in the UGT1A1 gene.     

Adults with Down''s syndrome: the prevalence of complications and health care in the community

BACKGROUND: Individuals with Down's syndrome are predisposed to a variety of medical conditions which can impose an additional, but preventable, burden of secondary disability. Although there are guidelines for health checks and medical management of children with Down's syndrome, the needs of adults are relatively neglected. AIM: To determine the prevalence of common medical problems in adults with Down's syndrome, and to assess current practice regarding medical surveillance of these patients. DESIGN OF STUDY: Detailed notes analysis. SETTING: Data were obtained from the primary care records of adults with Down's syndrome living in the Newcastle upon Tyne and Gateshead areas. METHOD: Case notes were reviewed to obtain details regarding complications and to determine the frequency of medical surveillance of individuals with Down's syndrome. RESULTS: Complications such as hypothyroidism, celiac disease, and obesity occur more frequently in adults with Down's syndrome than previous paediatric prevalence studies suggest. Surveillance of common complications that occur in individuals with Down's syndrome is infrequent. In this study, 48% of adults with Down's syndrome had not seen a doctor in the previous 12 months and 33% had not had a medical assessment in the previous 3 years. CONCLUSION: Many individuals with Down's syndrome do not have access to regular healthcare checks, despite the high frequency of common medical complications in adult life. Debate regarding the practicality and relevance of introducing regular health checks is warranted.     

Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities

In all, 80% of antenatal karyotypes are generated by Down''s syndrome screening programmes (DSSP). After a positive screening, women are offered prenatal foetus karyotyping, the gold standard. Reliable molecular methods for rapid aneuploidy diagnosis (RAD: fluorescence in situ hybridization (FISH) and quantitative fluorescence PCR (QF-PCR)) can detect common aneuploidies, and are faster and less expensive than karyotyping.In the UK, RAD is recommended as a standalone approach in DSSP, whereas the US guidelines recommend that RAD be followed up by karyotyping. A cost-effectiveness (CE) analysis of RAD in various DSSP is lacking. There is a debate over the significance of chromosome abnormalities (CA) detected with karyotyping but not using RAD. Our objectives were to compare the CE of RAD versus karyotyping, to evaluate the clinically significant missed CA and to determine the impact of detecting the missed CA. We performed computer simulations to compare six screening options followed by FISH, PCR or karyotyping using a population of 110 948 pregnancies. Among the safer screening strategies, the most cost-effective strategy was contingent screening with QF-PCR (CE ratio of $24 084 per Down''s syndrome (DS) detected). Using karyotyping, the CE ratio increased to $27 898. QF-PCR missed only six clinically significant CA of which only one was expected to confer a high risk of an abnormal outcome. The incremental CE ratio (ICER) to find the CA missed by RAD was $66 608 per CA. These costs are much higher than those involved for detecting DS cases. As the DSSP are mainly designed for DS detection, it may be relevant to question the additional costs of karyotyping.     

An unusual primary biphasic neuroendocrine carcinoma of lung associated with ectopic ACTH production and Cushing's syndrome

A 62-year old female presented with signs and symptoms of Cushing's syndrome. The source of the ectopic ACTH was a left lung lower lobe neuroendocrine tumour composed of two cell types: epithelioid and spindle shaped cells and; a second component of smaller, uniform round neuroendocrine cells. The tumour did not conform to any of the recognized lung neuroendocrine categories and an atypical carcinoid was the best fit based on mitotic count (6 per 10 high power field).This case highlights unusual histology for a pulmonary neuroendocrine tumour and also the nomenclatural difficulties associated with the current classification.     

Expression of cytokines,chemokines and other effector molecules in two prototypic autoinflammatory skin diseases,pyoderma gangrenosum and Sweet's syndrome

Pyoderma gangrenosum (PG) and Sweet''s syndrome (SS) are two inflammatory skin diseases presenting with painful ulcers and erythematous plaques, respectively; both disorders have a debilitating clinical behaviour and PG is potentially life-threatening. Recently, PG and SS have been included among the autoinflammatory diseases, which are characterized by recurrent episodes of sterile inflammation, without circulating autoantibodies and autoreactive T cells. However, an autoinflammatory pattern clearly supporting this inclusion has never been demonstrated. We studied 16 patients with PG, six with SS and six controls, evaluating, using a sandwich-based protein antibody array method, the expression profile of inflammatory effector molecules in PG, SS and normal skin. The expressions of interleukin (IL)-1 beta and its receptor I were significantly higher in PG (P = 0·0001 for both) and SS (P = 0·004–0·040) than in controls. In PG, chemokines such as IL-8 (P = 0·0001), chemokine (C-X-C motif) ligand (CXCL) 1/2/3 (P = 0·002), CXCL 16 (P = 0·003) and regulated upon activation normal T cell expressed and secreted (RANTES) (P = 0·005) were over-expressed. In SS, IL-8 (P = 0·018), CXCL 1/2/3 (P = 0·006) and CXCL 16 (P = 0·036) but not RANTES were over-expressed, suggesting that chemokine-mediated signals are lower than in PG. Fas/Fas ligand and CD40/CD40 ligand systems were over-expressed in PG (P = 0·0001 for Fas, P = 0·009 for Fas ligand, P = 0·012 for CD40, P = 0·0001 for CD40 ligand), contributing to tissue damage and inflammation, while their role seems to be less significant in SS. Over-expression of cytokines/chemokines and molecules amplifying the inflammatory network supports the view that PG and SS are autoinflammatory diseases. The differences in expression profile of inflammatory effectors between these two disorders may explain the stronger local aggressiveness in PG than SS.