Etiopathological aspects of achalasia: lessons learned with Hirschsprung's disease.

The etiology of primary esophageal achalasia is largely unknown. There is increasing evidence that genetic alterations might play an important but underestimated role. Current knowledge of the genetic base of Hirschsprung's disease in contrast is far more detailed. The two enteric neuropathies have several clinical features in common. This association may also exist on a cellular and molecular level. The aim of this review is to enlighten those etiopathogenetic concepts of Hirschsprung's disease that seem to be useful in uncovering the pathological processes causing achalasia. Three aspects are looked at: (i) the genetic base of Hirschsprung's disease, particularly its major susceptibility gene rearranged during transfection and its potential reference to achalasia; (ii) the altered motor functions in both conditions with loss of inhibitory innervation and interstitial cell pathology; and (iii) the involvement of these motility disorders in genetic syndromes.

[Achalasia in a patient with HIV/HCV coinfection: detection of HCV in the esophageal tissue]. / Achalasie bei HIV/HCV-Koinfektion : HCV-Nachweis im Ösophagusgewebe.

Esophageal involvement in the context of opportunistic infections in human immunodeficiency virus (HIV) positive patients is a frequent phenomenon. However, worldwide esophageal achalasia has been described only twice in HIV-infected patients.We report the case of a 44-year-old Caucasian patient with HIV and Hepatitis C virus (HIV/HCV) coinfection who, within 2.5 years, displayed a progressive symptomatology with dysphagia, retrosternal pain, regurgitation as well as a considerable loss of weight before achalasia was finally diagnosed. Treatment was performed primarily surgically by means of laparoscopic Heller myotomy with an anterior 180° semifundoplication according to Dor.Histopathology of the specimens taken from the lower esophageal sphincter high-pressure zone proved alterations with abundant connective tissue and only scarce parts of the smooth muscular system without inflammatory infiltrations. In addition, the ganglia cells of the myenteric plexus as well as the interstitial cells of Cajal were significantly reduced. Interestingly, specific gene sequences of the hepatitis C virus could be detected in the esophageal tissue specimen. In contrast, analysis of specific HIV-gene sequences in the same tissue revealed a negative result.The possible but previously unknown relationship between esophageal achalasia and coinfection with HIV and HCV, also described as neurotropic viruses, will be discussed.

Spontaneous splenic rupture, in tertian malaria.

We report a case of tertian malaria in a 36-year-old Caucasian male complicated by spontaneous splenic rupture 2 months after returning from Kenya. The ruptured and enlarged spleen displaying multiple subcapsular hemorrhages was surgically resected. Histological examination revealed a marked enlargement of the red pulp and a reduced white pulp in addition to hyperemia of the spleen. Tertian malaria was diagnosed by peripheral blood smear and elevated antibody titer against Plasmodium vivax. The patient underwent antimalarial therapy with chloroquine and primaquine and the further course was uneventful. Etiopathology, differential diagnosis and therapy of this rare complication in malaria are discussed.

Stable remission after administration of rituximab in a patient with primary hepatic marginal zone B-cell lymphoma.

We describe a case of primary hepatic marginal zone B-cell lymphoma in a 36-year-old Caucasian male with a history of chronic hepatitis B infection. Immunohistochemically, extensive infiltration by a CD20-positive, CD5- negative and CD10-negative lymphoid cell population displaying a follicular arrangement was detected. Molecular analysis of immunoglobulin heavy chain gene rearrangements confirmed the clonal expansion of lymphoma cells. Fourteen months after surgical treatment, the tumour recurred in close proximity to the liver hilus, hampering further surgery. Therefore, we implemented a therapy using the monoclonal anti-CD20-antibody rituximab in a dose of 375 mg/m(2), administered four times once a week. Six, 10, 18, and 26 months later the recurrent lymphoma could no longer be detected as shown by abdominal ultrasonography and CT. This case report demonstrates the difficulties of treating this extremely rare liver disease and shows its response to rituximab therapy.

Signet-ring cell carcinoma of unknown primary location. Metastatic to lower back musculature - remission following FU/FA chemotherapy.

The detection of gastrointestinal signet-ring cell carcinoma by endoscopy can be a diagnostic challenge. The main clinical features include atypical metastasis and a poor prognosis. We present a case of a metastasizing signet-ring cell carcinoma with unknown primary location arising in 71-year-old female. Following 6 cycles of a routine intravenous FU/FA chemotherapy, an almost complete remission could be observed. After 2 years of follow up, metastatic recurrence was detected to the lower back musculature. This case report emphasizes the difficulties in diagnosing signet-ring cell carcinoma by endoscopy and demonstrates an unusual clinical course.