A 73-year-old woman was admitted after the first upper gastric tract haemorrhage due to gastric variceal bleeding. A CREST syndrome associated with Hashimoto's thyroiditis, Gougerot-Sjögren syndrome, cryoglobulinaemia and complicated with severe pulmonary hypertension was diagnosed. Liver histology found precirrhotic lesions of primary biliary cirrhosis (PBC) and nodular regenerative hyperplasia (NRH). ...

To the Editor: In 1957, an American internist reported the preference of Streptococcus pneumoniae for the aortic valve and its frequent association with meningitis and pneumonia (1), an association now known as Austrian syndrome. This syndrome mainly occurs in middle-age men who have predisposing factors, such as chronic alcoholism, altered ...

The hand-foot-syndrome (HFS, palmoplantar erythrodysesthesia, chemotherapy-associated acral erythema) is characterized by painful predominantly palmo-plantar lesions. The association with different chemotherapeutic agents has been known for over 20 years. More recently, HFS has been reported in association with regimens using targeted agents, in particular the multikinase inhibitors (MKI) sorafenib and sunitinib. ...

A case of bladder hemangiomas in association with Proteus syndrome (PS) is described. PS is a rare hamartomatous disorder and comprises an association of verrucous epidermal nevi, infantile hemangiomas, lipoma-like subcutaneous hamartomas and asymmetrical overgrowth of almost any part of the body. To our knowledge, this is the second case ...

We report a 13-year-old girl with Axenfeld-Rieger syndrome who was also found to have microspherophakia. She developed glaucoma in both eyes and was treated with bilateral pars plana lensectomy. To the best of our knowledge, no such association has been reported previously in the literature.

Turner's syndrome is a genetic disorder of the sex chromosomes (e.g., 45,X or 45,X/46,XX) that manifests as various congenital anomalies. Despite its numerous extragonadal manifestations and frequent accompanying abnormalities in liver function tests, liver cirrhosis associated with Turner's syndrome has not been reported in Korea. Moreover, pulmonary arteriovenous malformations (PAVMs) ...

Opsoclonus-myoclonus syndrome is a rare neurologic disorder characterized by multidirectional chaotic eye movements, myoclonus in the limbs, and ataxia. We present a 9-year-old boy with opsoclonus-myoclonus syndrome associated with hepatitis C infection. To the best of our knowledge, this is the first report of opsoclonus-myoclonus syndrome associated with hepatitis C ...

Phacomatosis pigmentokeratotica is characterized by the coexistence of an organoid epidermal naevus, follow-ing Blaschko's lines, and a large speckled lentiginous naevus, typically arranged in a chequerboard pattern. This entity has been isolated from the group of epidermal naevus syndromes and is frequently associated with extracutaneous anomalies. We report here the ...

BACKGROUND: Andersen-Tawil syndrome (ATS1)-associated ventricular arrhythmias are initiated by frequent, hypokalemia-exacerbated, triggered activity. Previous ex vivo studies in drug-induced Andersen-Tawil syndrome (DI-ATS1) models have proposed that arrhythmia propensity in DI-ATS1 derives from cytosolic Ca(2+) ([Ca(2+)](i)) accumulation leading to increased triggered activity. OBJECTIVE: The purpose of this study was to test ...

Restless leg syndrome (RLS) is a common disorder associated with significant distress. We report three cases of drug induced RLS caused by olanzapine. In each case, RLS commenced after initiation of treatment with olanzapine and resolved after ceasing olanzapine. All three patients were subsequently treated with other atypical antipsychotics, risperidone, ...

Hamman's syndrome is the classical association of subcutaneous emphysema and pneumomediastinum, with or without pneumothorax. Its onset during the expulsive phase of childbirth is exceptional. We report here the first case associated with pharyngeal rupture at the level of the piriform sinus and describe the warning signs and the management ...

Little is known about the functional interaction between the Bloom's syndrome protein (BLM) and the recombinase RAD51 within cells. Using RNA interference technology, we provide the first demonstration that RAD51 acts upstream from BLM to prevent anaphase bridge formation. RAD51 downregulation was associated with an increase in the frequency of ...

PURPOSE: To describe a case of choroidal neovascularization (CNV) on the border of an inferior staphyloma associated with tilted disc syndrome treated with intravitreal ranibizumab. PATIENTS: Observational case report. METHODS: A patient with CNV on the border of an inferior staphyloma associated with tilted disc syndrome was imaged using fluorescein ...

PURPOSE: Goldenhar syndrome is a multiorgan involvement affecting mainly the eyes, auricle, and oral cavity. METHOD. Case report. RESULTS: A 7-month-old boy presenting with features of Goldenhar syndrome had ocular and auricular manifestations. There were no vertebral anomalies, but he had the unusual association of pre-axial polydactyly, which is not ...

Thymic carcinomas are rare neoplasms representing less than 1% of all thymic malignancies arising from thymic epithelium. Lymphoepithelioma-like thymic carcinoma is a high grade neoplasm with aggressive features and frequent metastasis. Association of lymphoepithelioma-like thymic carcinomas with Epstein-Barr virus was observed in several previously reported case reports. Paraneoplastic syndromes have ...

Kaposi sarcoma herpes virus (KSHV), also known as human herpesvirus-8, plays an important role in the pathogenesis of Kaposi sarcoma (KS), multicentric Castleman disease (MCD) of the plasma cell type, and primary effusion lymphoma. KSHV is rarely associated with the hemophagocytic syndrome (HPS), but when it does occur, it most ...

A considerable volume of literature has been published on the association of lacrimal outflow dysgenesis with developmental anomalies or systemic syndromes. We report three affected individuals in a consanguineous family those are associated with bilateral ptosis, upper ocular movement limitation, and absence of the lacrimal punctum. T our knowledge, this ...

BACKGROUND: Self-injurious behaviour is commonly seen in Cornelia de Lange syndrome (CdLS). However, there has been limited research into the aetiology of self-injury in CdLS and whether environmental factors influence the behaviour. METHODS: We observed the self-injury of 27 individuals with CdLS and 17 participants who did not have CdLS ...

Good syndrome, characterized by hypogammaglobulinemia and acquired immunodeficiency, is a rare condition associated with thymoma. A 67-year-old woman, who 4 months previously had a thymoma resected, presented with generalized hypogammaglobulinemia with a severely decreased B cell population as demonstrated by flow cytometry. She was diagnosed as having bacterial mediastinitis associated ...

Transient ischemic attack is one of the most common causes of transient neurologic deficit. Anemic hypoxia results from reduced hemoglobin content with normal arterial oxygen tension and saturation. Anemic hypoxia caused by blood loss or hemolysis has not been considered as an independent factor leading to significant neurologic problems because ...

Wegener's Granulomatosis (WG) is closely associated with antineutrophil cytoplasmic autoantibodies (ANCA), particularly those directed to proteinase 3 (PR3). ANCA directed to myeloperoxidase (MPO) are associated with microscopic polyangiitis (MPA) and the Churg Strauss syndrome. PR3-ANCA associated vasculitis differs from MPO-ANCA associated vasculitis particularly in the occurrence of granulomatous inflammation and ...

Paraneoplastic acrokeratosis of Bazex (PAB) or Bazex's syndrome is a rare, paraneoplastic syndrome that mostly affects men over 40 years old, and generally associates with squamous cell carcinoma of the upper aerodigestive tract. We describe a 57-year-old woman with the characteristic features of PAB, including violaceous erythematous, scaling eruption, palmoplantar ...

Infection-associated hemophagocytic syndrome is a life-threatening condition characterized by prolonged fever, hepatosplenomegaly, and cytopenia-most commonly, thrombocytopenia and anemia. It is characterized by proliferation and activation of benign histiocytes, causing dysfunction of various organs. Herein, we report on a 5-month-old boy whose clinical picture and laboratory findings were consistent with cytomegalovirus ...

Systemic vasculitis may, at times, be drug-induced and associated with antineutrophil cytoplasmic antibodies (ANCA). However, pantoprazole, a commonly used and well-tolerated proton pump inhibitor, has not previously been reported to cause ANCA-associated syndromes. We describe a patient who developed interstitial nephritis, cutaneous vasculitis, a perinuclear ANCA staining pattern (pANCA) on ...

We describe a case report of a 6-year-old boy with a 4-year history of recurrent vomiting with a cyclical vomiting pattern. Although initially labelled with and treated for Cyclical Vomiting Syndrome the cause was subsequently found to be an enteric duplication associated with cystic lymphangioma, an association not previously described.

A number of conditions have been associated with remitting seronegative symmetrical synovitis with pitting edema (RS3PE) and the controversy of whether this should be considered a syndrome rather than a disease continues. There are few reports on the role of infectious agents in the etiology of RS3PE, and human parvovirus ...

An association between HLA-DR13 and patients with complex regional pain syndrome (CRPS) who progressed towards multifocal or generalized tonic dystonia was recently reported. We now report on a new locus, centromeric in HLA-class I, which was significantly associated with a spontaneous development of CRPS, suggesting an interaction between trauma severity ...

The adipocytes anatomically associated with lymph nodes and omental milky spots have site-specific properties that equip them to interact locally with lymphoid cells. Paracine provisioning of peripheral immune responses improves their efficiency and emancipates activated lymphocytes from competition with other tissues for blood-borne nutrients. Prolonged disruption to such paracine interactions ...

A variety of systemic autoimmune disorders have been reported in patients with myelodysplastic and myeloproliferative syndromes. A possible association with polymyalgia rheumatica and giant cell arteritis has also been recognised. We report another case of polymyalgia rheumatica and one of giant cell arteritis associated with a myelodysplastic syndrome and the ...

Two large outbreaks of diarrheal illness associated with Cyclospora cayetanensis, a coccidian parasite, provided an opportunity to evaluate clinical syndromes associated with this enteric pathogen. Reiter syndrome, a triad of ocular inflammation, inflammatory oligoarthritis, and sterile urethritis, has been associated with enteric infections. We describe the first case of Reiter ...

Twenty-five percent to 50% of patients with polymyositis (PM) and dermatomyositis (DM) have autoantibodies that are specific for or associated with the presence of myositis. Because of a relatively low sensitivity for the diagnosis of PM or DM, these autoantibodies are inadequate as a screening test for PM or DM ...

A small number of cases of Cushing's disease (CD) associated with primary empty sella (ES) have been described in the literature. Pituitary microsurgery is the recommended treatment. An alternative is chronic treatment with ketoconazole, an inhibitor of adrenal cortisol synthesis. Cyclic Cushing's syndrome is characterized by episodic cortisol hypersecretion. CD ...

OBJECTIVE: To investigate the role of HLA class I in susceptibility to Felty's syndrome (FS) and large granular lymphocyte (LGL) syndrome. METHODS: Fifty caucasoid FS patients, and 55 patients with LGL syndrome, of whom 26 had arthritis and 29 did not, were studied. Complete HLA class I and HLA-DR typing ...

Waugh's syndrome (WS) is the association of intussusception and intestinal malrotation. The association has not been widely reported in the literature. In the only prospective study, Brereton et al. reported a high frequency of the association, which suggests non-random association. Six patients with this association presented to our unit over ...

A case of pronator teres syndrome associated with mononeuritis multiplex in polyarteritis nodosa is reported. External neurolysis of the median nerve at the proximal forearm and prednisolone were effective for treatment of the disease.

Persistent Mullerian Duct Syndrome (PMDS) associated with transverse testicular ectopia (TTE) is rare. Ten cases have been reported in the past. Accurate diagnosis with karyotype and histological analysis is crucial. Surgical management should be geared toward preservation of fertility when possible.

Pfiesteria piscicida (Pp) is an estuarine dinoflagellate that has been associated with fish kill events in estuaries along the eastern seaboard and possibly with human health effects. CDC, in collaboration with other federal, state, and local government agencies and academic institutions, is conducting multistate surveillance, epidemiologic studies, and laboratory research ...

Cogan's syndrome is a rare clinical entity defined by the association of a nonsyphilitic interstitial keratitis and vestibuloauditory dysfunction, typically Menière's disease-like; the condition has been reported in association with a variety of cutaneous diseases. We now report a case of pyoderma gangrenosum complicating Cogan's syndrome in a 57-year-old woman, ...

A 16-year-old girl had fully manifested Coffin-Lowry syndrome and drop episodes. Her drop episodes were precipitated by sudden unexpected tactile or auditory stimuli associated with the electrostatic circumstances in her leg muscles immediately after the stimuli. Studies revealed that her drop episode symptom was an unusual type of startle response ...

The neglect syndrome is a cluster of neurologic symptoms commonly found after right hemisphere damage. This study investigates the degree of association between the main components in a representative sample of 69 patients at 2 to 3 days poststroke. Despite evidence of statistically significant associations between components, many dissociations were ...

We describe a 52-year-old woman with panniculitis and blind loop syndrome. She had undergone a gastrectomy for peptic ulcer 4 years before. Tender erythematous nodules on her palms and soles were associated with diarrhea and weight loss. A biopsy specimen revealed septal and lobular panniculitis. A glucose hydrogen breath test ...

Bazex syndrome, or acrokeratosis paraneoplastica, is a cutaneous paraneoplastic syndrome characterized by psoriasiform lesions associated with, usually, a squamous cell carcinoma of the upper aerodigestive tract. We present a case of Bazex syndrome associated with metastatic cervical squamous cell carcinoma with an unknown primary. The features of the condition are ...

BACKGROUND: Systemic acetazolamide treatment has been reported in association with Stevens-Johnson syndrome (SJS). This is the first report of this syndrome associated with methazolamide treatment. The association is reported in two Japanese-American women. METHOD AND RESULTS: Two patients with SJS, which developed during treatment with methazolamide, are described. Other potential ...

OBJECTIVE: To highlight the association of colobomatous microphthalmos with blepharophimosis syndrome. RESULT: We present a case of blepharophimosis syndrome associated with bilateral optic disc, retinochoroidal and iris colobomas, and microphthalmos, in a Caucasian boy. Inheritance in this case was autosomal dominant from the maternal side. CONCLUSION: Colobomatous microphthalmos is an ...

A case is presented of a male with Kallmann's syndrome who at the age of 27 developed central diabetes insipidus. Previously, Kallmann's syndrome has been found to be associated with an altered osmotic threshold for vasopressin release and impaired thirst sensation, but to our knowledge, this is the first reported ...

We report a male with cerebellar ataxia, hypogonadism and chorioretinopathy. The age of onset was 12. The parents were first cousins. Endocrinologic studies demonstrated hypogonadotropic hypogonadism due to pituitary dysfunction. The ocular disorder involved the choriocapillaris and the retina. The association may represent a separate syndrome, seldom recognized in the ...

New species associated with Coleoptera are described: Sandrophela hugoni from Sumatra, S. sophiae from India, S. amarae from Java and Sumatra, Dicanestrinia huberti, Photia adolfinae both from Poland, Scarabiphotia vigoni from unknown locality, Beeriphotia volkeri, Canestrinia paavoi and C. ramoni, all from China. There are created two new genera: Beeriphotia ...

Melanocytic nevi have been reported in association with several congenital syndromes. This review describes the clinical and cutaneous manifestations of six syndromes associated with congenital melanocytic nevi, two associated with acquired nevi, and six associated with melanocytic nevi in which insufficient evidence exists to classify them as congenital or acquired. ...

The association between agnathia and holoprosencephaly is well documented (Pauli et al., 1981). Pauli et al. described two female sibs with agnathia and holoprosencephaly who were subsequently shown to carry an unbalanced 46,XX, der 18,t(6;18)(pter p24.1) karyotype (Pauli et al., 1983; Krassikoff and Sekhon, 1989). All other cases have been ...

Headache syndromes are known to occur in association with sleep. Both the clinical and the polysomnographic abnormalities occurring in association with various headache syndromes have been described. We report the occurrence of transient recurrent situational insomnia that occurred in association with chronic cluster headaches and was reversible after the headache ...