Pulmonary adenocarcinoma, Lambert--Eaton myasthenic syndrome, and voltage-gated calcium channels: a case report

ABSTRACT: INTRODUCTION: Lambert--Eaton myasthenic syndrome is a rare disorder and it is known as a paraneoplastic neurological syndrome. Small cell lung cancer often accompanies this syndrome. Lambert--Eaton myasthenic syndrome associated with lung adenocarcinoma is extremely rare; there are only a few reported cases worldwide. CASE PRESENTATION: A 75-year-old Japanese man with a past history of chronic rheumatoid arthritis and Sjogren syndrome was diagnosed with Lambert--Eaton myasthenic syndrome by electromyography and serum anti-P/Q-type voltage-gated calcium channel antibody level preceding the diagnosis of lung cancer. A chest computed tomography to screen for malignant lesions revealed an abnormal shadow in the lung. Although a histopathological examination by bronchoscopic study could not reveal the malignancy, lung cancer was mostly suspected after the results of a chest computed tomography and [18F]-fluorodeoxyglucose positron emission tomography. An intraoperative diagnosis based on the frozen section obtained by tumor biopsy was adenocarcinoma so the patient underwent a lobectomy of the right lower lobe and lymph node dissection with video-assisted thoracoscopic surgery. The permanent pathological examination was the same as the frozen diagnosis (pT2aN1M0: Stage IIa: TNM staging 7th edition). Immunohistochemistry revealed that most of the cancer cells were positive for P/Q-type voltage-gated calcium channel. CONCLUSIONS: Our case is a rare combination of Lambert--Eaton myasthenic syndrome associated with lung adenocarcinoma, rheumatoid arthritis and Sjogren syndrome, and to the best of our knowledge it is the first report that indicates the presence of voltage-gated calcium channel in lung adenocarcinoma by immunostaining.     

Congenital partial arhinia: a case report

Purpose

To describe the development of presumed immune-mediated stromal rejection after automated lamellar therapeutic keratoplasty (ALTK) and its reversal after initiation of intensive topical corticosteroid therapy.

Methods

Observational case report.

Results

Stromal edema localized in the graft developed 42 days after ALTK for Avellino corneal dystrophy in a 65-year-old man. After one week of intensive topical corticosteroids, complete reversal of graft edema occurred, with full recovery of visual function.

Conclusion

The clinical appearance and response to therapy in this case supported the diagnosis of immune-mediated stromal rejection. Ophthalmologists should be aware that stromal rejection may occur in lamellar corneal grafts.     

Drug-induced long-QT syndrome: a case report

An elderly psychiatric female patient with a long-lasting severe resistant depression was referred for medical examination because of gastrointestinal complaints. The ECG revealed a strongly extended QT interval. No other cardiological abnormalities were observed. The patient''s symptoms as well as the QT interval and biochemical abnormalities could be reduced by changing psychiatric drug treatment and reduction of concomitant medication.     

Pre-Cushing's syndrome: a case report.

A 67-year-old man affected by prostate cancer was incidentally found to have a nodular enlargement of the left adrenal gland without apparent changes in hormonal status. The adrenal mass was found to be scintigraphically active, the radiolabelled compound being concentrated in its context with a consensual suppression of the contralateral uptake. The patient underwent a resection of the adrenal tumor. Histologically and biochemically, the adrenal mass was found to be a non-functioning adenoma. The radioisotopic uptake along with the non-hormonal activity prompted us to call this tumor "Pre-Cushing's syndrome" of the adrenal cortex.     

Congenital Plasmodium vivax malaria mimicking neonatal sepsis: a case report

A recently published comment on a report of Plasmodium knowlesi infections in Vietnam states that this may not accurately represent the situation in the study area because the PCR primers used may cross-hybridize with Plasmodium vivax. Nevertheless, P. knowlesi infections have been confirmed by sequencing. In addition, a neighbour-joining tree based on the 18S S-Type SSUrRNA gene shows that the Vietnamese samples clearly cluster with the P. knowlesi isolates identified in Malaysia and are distinct from the corresponding P. vivax sequences. All samples came from asymptomatic individuals who did not consult for fever during the months preceding or following the survey, indicating that asymptomatic P. knowlesi infections occur in this population, although this does not exclude the occurrence of symptomatic cases. Large-scale studies to determine the extent and the epidemiology of P. knowlesi malaria in Vietnam are further needed.     

Goldston syndrome: report of a case.

Cerebrohepatorenal malformation is a rare familial disorder characterized by typical renal lesions combined with Dandy-Walker malformation, and congenital hepatic fibrosis. In this case report, a male premie with the diagnosis of cerebrorenal syndrome or so called Goldston syndrome is presented. Besides the rarity of this syndrome, this case is the second reported patient diagnosed prenatally.     

Congenital deformity of the paw in a captive tiger: case report

Background

Although Morbillivirus and Toxoplasma gondii have emerged as important pathogens for several cetaceans populations over the last 20 years, they have never been identified together in a Mysticete. In particular, morbilliviral infection has been never described in the Mediterranean fin whale population.

Case presentation

On January 2011 an adult male of fin whale (Balaenoptera physalus) stranded along the Tyrrhenian coastline of Italy. During necropsy, tissue samples from heart, skeletal muscle, mesenteric lymph nodes, liver, spleen, lung, and kidney were collected and subsequently analyzed for Morbillivirus and Toxoplasma gondii by microscopic and molecular methods. Following the detailed necropsy carried out on this whale, molecular analysis revealed, for the first time, the simultaneous presence of a Dolphin Morbillivirus (DMV) and T. gondii infection coexisting with each other, along with high organochlorine pollutant concentrations, with special reference to DDT.

Conclusion

This report, besides confirming the possibility for Mysticetes to be infected with DMV, highlights the risk of toxoplasmosis in sea water for mammals, already immunodepressed by concurrent factors as infections and environmental contaminants.     

Prune perineum syndrome: report of a second case

A child is reported with a constellation of anomalies which include acetabular dysplasia with bilateral dislocated hips, persistent cloaca, hypoplastic kidney, two umbilical vessels, anal atresia and no obvious external genitalia. These anomalies are strikingly similar to a case reported by Peeden et al ('79) which was referred to as prune perineum. A discussion on possible underlying cause(s) of caudal dysplasia is included.     

Lemierre's syndrome: case report in a pediatric patient

Lemierre's syndrome was described in 1936 as a severe oropharyngeal infection followed by septic thrombophlebitis of the internal jugular vein and disseminated metastatic infections. Cases occur typically in previously healthy young adults and children. Fusobacterium necrophorum is the main anaerobic bacterium implicated. We present a septic 2-month-old infant with mastoiditis, multiple sites of osteoarthritis and multiple subcutaneous abscesses. No underlying anatomic or immunologic abnormalities were identified. Fusobacterium necrophorum was recovered from blood and bone samples obtained intraoperatively. Treatment included anaerobic coverage and drainage of septic foci. The patient was discharged home on 35th hospital day with oral amoxicillin-clavulanic acid and he recovered without sequelae. This was the first case of Lemierre's syndrome in our hospital. We want to highlight the absence of jugular vein thrombophlebitis, the presence of mastoiditis as previous infection and the surprising appearance of this infection in an edentulous 2-month-old infant.     

Congenital myasthenic syndromes: A diverse array of molecular targets

The neuromuscular junction (NMJ) has served as a prototype for understanding mechanisms underlying synaptic transmission over the past 50 years. More recently, analysis of congenital myasthenic syndromes (CMS) revealed a diverse array of molecular targets and delineated their contributions to synaptic function. Clinical, electrophysiologic and morphologic studies have paved the way for detecting CMS-related mutations in proteins such as choline acetyltransferase acetylcholinesterase, the acetylcholine receptor, rapsyn, and the voltage-gated sodium channel of the Na_v1.4 type. Further studies of the mutant proteins have allowed us to correlate the effects of the mutations with predicted alterations in protein structure. In this review, we focus on the symptomatology of the CMS, consider the factors that impair neuromuscular transmission, survey the mutations that have been uncovered in the different synaptic proteins, and consider the functional implications of the identified mutations.     

Congenital iodide organification defect accompanied by a large nodular goiter: a case report

A girl who had a nontoxic diffuse goiter with a congenital organification defect of iodide was first seen at the age of 8 years, and since then she has been followed up for a long period. The nodularity of the thyroid gland had gradually progressed, because of intermittent failure of ingestion of thyroid hormone preparation which was followed by excess TSH secretion. 18 years later, a nodular goiter developed and the patient underwent subtotal thyroidectomy. In order to prevent the development of nodular change in the thyroid gland in this disorder, supplemental thyroid hormone medication should be started as soon as the diagnosis is confirmed, and the therapy should be carried out regularly.     

Ovarian remnant syndrome in a Toy Poodle: a case report

Ovarian remnant syndrome was diagnosed in a 3-yr-old, female Toy Poodle presented with signs of estrus. The diagnosis was based on the clinical and laboratory changes in response to injection with hCG. The remnant of ovarian tissue was removed surgically under general anesthesia and the animal recovered uneventfully.     

Amniotic band syndrome in a rhesus monkey: a case report

A rhesus monkey fetus was examined by ultrasound at 110, 111, and 113 gestational days (GD) and showed features suggestive of Amniotic Band Syndrome (ABS). These included an unusual craniofacial configuration, cortical distortion, asymmetrical hydrocephalus, a right occipital porencephalic cyst, and hydropic membranes with several free strands attached to the fetal head, neck, and scapular regions. The fetus remained fixed in the same position with the head retroflexed during each consecutive exam. A hysterotomy was performed and ABS was confirmed.     

Maffucci syndrome and soft tissue sarcoma: a case report

Background

Maffucci syndrome, a congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas, was first described in 1881, and 200 cases have been reported in the literature since then. Its etiology is unknown, there is no predilection for race or sex, and the development of lesions usually occurs in puberty. The risk of sarcomatous transformation is about 25%.

Case presentation

The initial investigation of the case reported here focused on the diagnosis and treatment of malignancy, and the first diagnostic hypothesis was thrombosed hemangioma. After histopathologic confirmation of soft tissue sarcoma, examinations were performed to stage the tumor and enchondromas were found in ribs. The final diagnosis was Maffucci syndrome with malignant transformation.

Conclusion

Treatment should aim at symptom relief and early detection of malignancies; no therapy is indicated for asymptomatic patients. As in the case reported here, bone or soft tissue lesions that grow or become painful should be biopsied.

     

Splenic lobulations in Bardet-Biedl syndrome: a first case report

Bardet-Biedl Syndrome (BBS) is a rare genetic disorder. It is considered to develop as a result of ciliary dysfunction. There are some clues about splenic expression of ciliary dysfunction. Therefore, splenic anomalies may be expected in BBS. We, here, describe a first case of BBS associated with splenic lobulations.     

Acro-cardio-facial syndrome associated with neuroepithelial cyst: a case report

Acro-cardio-facial syndrome (ACFS) is a very rare genetic syndrome. Only 5 patients have been reported in the literature so far. A female neonate presented with limb abnormalities, cleft palate and congenital heart disease was diagnosed as ACFS. Her cranial magnetic resonance imaging revealed a huge cerebral neuroepithelial cyst. To our knowledge, this is the first case of ACFS in the literature associated with a neuroepithelial cyst in the brain.