Uhl's Anomaly: A Rare Case of Portal Hypertension.

Uhl's anomaly is a rare congenital heart disease characterized by partial or complete absence of the right ventricular myocardium and high early mortality rates. We describe a case of Uhl's anomaly in a 27-year-old young male patient presenting with portal hypertension and esophageal varices. In this article, we review the literature associated with this condition and highlight a rare presentation of a rare disease. This report adds to our current knowledge of this exceedingly rare disorder.

Clinico-biochemical correlation to histological findings in alcoholic liver disease: a single centre study from eastern India.

BACKGROUND: Alcoholism is a health problem not only in developed countries but also in developing countries. Cirrhosis due to alcohol is a common cause of death among individuals abusing alcohol. A better knowledge of the spectrum of alcoholic liver diseases, its clinical, biochemical and histopathological features could result in early detection and prevention of alcoholic liver diseases before it's catastrophic and life threatening effects. MATERIALS AND METHODS: A total of 200 patients with alcoholic liver diseases were studied with respect to alcohol consumption, clinical features, biochemical and histopathological changes. The clinical features, biochemical parameters, and histopathology of liver including Ishak's modified histological activity index (HAI) were correlated with the amount and duration of alcohol consumed. RESULT: Majority of the patients were in the age group of 40-49 years and all the cases were males. Majority consumed alcohol of about 75-90 grams per day for a duration of 10-12 years. Anorexia and jaundice were the most common symptom and clinical finding respectively. Hyperbilirubinemia and hypoalbuminemia were the most common abnormalities observed in liver function tests. Advanced HAI stages with features of cirrhosis were most frequent histo-pathological finding noted in this study. Clinico-biochemical profile was significantly correlated with degree of alcohol ingestion as well as with liver histopathology. CONCLUSION: The wide prevalence of alcoholic liver disease including cirrhosis among Indian males was noted with significantly lower quantity and duration of alcohol ingestion. The severity of liver damage is directly proportional to the quantity and duration of alcohol consumed. Clinical features and biochemical changes may forecast the liver histopathology among the patients of alcoholic liver disease.

Clinico-laboratory profile of severe Plasmodium vivax malaria in a tertiary care centre in Kolkata.

BACKGROUND: Vivax malaria is the most widely distributed human malaria and is responsible for up to 400 million infections every year. Recently, it has become evident that Plasmodium vivax monoinfection could also result in multiple organ dysfunction and severe life-threatening disease as seen in Plasmodium falciparum infection. MATERIALS AND METHODS: The aim of this study was to note the different clinical and biochemical profiles of adult patients with the severe vivax malaria with regards to complications and outcome. This was a prospective observational study carried out at a tertiary care hospital in Kolkata over 9 month's period. Detailed history and examination findings were noted in all patients. Their clinical presentations, complications, course in ward until discharge or death was noted. RESULTS: A total of 900 cases of vivax malaria were included in the study. Severe disease was present in 200 (22.2%) cases of malaria. There were 108 (54%) patients with single complication (SC) and 92 (46%) patients with the multiple complications (MC). Patients with SC had jaundice (48.1%) followed by cerebral involvement (25.9%), renal failure (7.4%), and pulmonary involvement (3.7%). The MC was found in various combinations and the majority (47.8%) had constellation of two different complications. The mortality rate of patients with the SC and MC was 7.4% and 34.8%. The overall mortality observed in severe vivax malaria was 20% (40/200). CONCLUSIONS: In recent years, the clinical pattern of vivax malaria has changed. Severe vivax malaria is now very common with increasing mortality. Not only the number, but also the type of complication influences the outcome of complicated malaria.

Portal hypertension related to light chain deposition disease of liver: an enlightening experience.

A 55-year-old alcoholic man presented with firm hepatomegaly, ascites and markedly elevated alkaline phosphatase. He had a history of pulmonary tuberculosis. Work-up for malignancy was negative. Histological examination of liver showed extracellular deposition of pink amorphous material which is Congo red stain negative. Deteriorating renal function and nephrotic-range proteinuria were noted. Renal histology showed thickening of the glomerular and tubular basement membranes by non-congophilic deposits along with mesangial expansion. Bone marrow examination revealed patchy areas of pink amorphous deposits which are Congo red stain negative. Immunohistochemical staining of amorphous depositions in liver, kidney and bone marrow were positive for κ light chains. Serum-free light chain assay confirmed markedly elevated free κ-light chain. κ-light chain deposition disease is a systemic disease with universal renal involvement but rarely it presents as chronic cholestatic liver disease with portal hypertension and frequently associated with fatal outcome due to diagnostic delay.

Gastric volvulus through morgagni hernia: an easily overlooked emergency.

BACKGROUND: Intractable vomiting in an elderly patient is an emergency condition requiring prompt diagnosis and intervention. Acute gastric outlet obstruction due to gastric volvulus through Morgagni-type diaphragmatic hernia is an exceedingly rare cause of this nonspecific complaint. OBJECTIVE: Our aim was to highlight that Morgagni hernia, although rare in adults, should be suspected in the appropriate clinical setting, and that a clue toward diagnosis often comes from routine chest and abdominal x-ray studies. In addition, we emphasize the atypical radiological findings and importance of emergency surgical intervention in such a case. CASE REPORT: We describe the case of a 78-year-old woman who presented to the Emergency Department with a 4-day history of intractable vomiting, and with no definitive clue to the diagnosis on examination. Her routine chest and abdomen x-ray studies suggested abnormal air-fluid level at right hemithorax, which prompted a computed tomography (CT) scan of the abdomen and an upper gastrointestinal contrast study. Gastric volvulus through a foramen of Morgagni was diagnosed and transthoracic reduction of the contents was performed, along with repair of the defect. CONCLUSIONS: A symptomatic Morgagni hernia in adults, although rare, can present with a variety of symptoms ranging from nonspecific complaints of bloating and indigestion to the more severe complaint of intestinal obstruction. Gastric volvulus and obstructive features are less frequently reported as acute complications of these hernias, which need early identification and intervention.

Autoimmune hepatitis in a teenage boy: 'overlap' or 'outlier' syndrome--dilemma for internists.

An 18-year-old boy presented with upper gastrointestinal bleeding and jaundice. Investigations revealed coarse hepatomegaly, splenomegaly and advanced oesophageal varices. Blood reports showed marked rise of alkaline phosphatase and more than twofold rise of transaminases and IgG. Liver histology was suggestive of piecemeal necrosis, interphase hepatitis and bile duct proliferation. Antinuclear antibody was positive in high titre along with positive antismooth muscle antibody and antimitochondrial antibody. The patient was positive for human leukocyte antigen DR3 type. Although an 'overlap' syndrome exists between autoimmune hepatitis (AIH) and primary biliary cirrhosis (PBC), a cholestatic variant of AIH, a rare 'outlier' syndrome could not be excluded in our case. Moreover, 'the chicken or the egg', AIH or PBC, the dilemma for the internists continued. The patient was put on steroid and ursodeoxycholic acid with unsatisfactory response. The existing international criteria for diagnosis of AIH are not generous enough to accommodate its variant forms.

A case of cerebral venous thrombosis presenting as acute reversible visual loss: a rarely reported association.

Cerebral venous sinus thrombosis (CVST) is not an uncommon cause of stroke but very often unrecognized at initial presentation due to lack of clinical suspicion and thus frequently left untreated. CVST is a potentially serious condition which manifests with diverse clinical manifestations, from isolated headache to focal neurological signs and even coma. CVST usually takes place either an inherited thrombophilia or any acquired hyperviscosity state and thus prompting anticoagulation was regimen as is the cornerstone of successful treatment. We describe a 47-year-old woman who presented with recurrent bouts of vomiting in the post-operative period and later developed cortical blindness and asymmetric limb weakness. Magnetic resonance imaging (MRI) showed hyperintensity involving bilateral parieto-occipital corticomedullary junction. MR venography showed signal void in the superior sagittal sinus. She was diagnosed as CVST and achieved complete recovery with anticoagulation therapy. Bilateral occipital infarction as a consequence of cerebral venous thrombosis is a rare cause of visual loss. Thrombosis in the superior sagittal sinus was related to her cortical blindness and weakness. This case illustrates that cerebral venous thrombosis should be considered in cases of occipital vascular lesions leading to acute painless loss of vision prompting anticoagulation therapy which can improve the outcome significantly. Dehydration could be considered as a risk factor for development of CVST in appropriate situations.

An unusual cause of haemoptysis: a diagnostic challenge for clinicians.

A 32-year-old male patient presented with haemoptysis in the background of high-grade fever for 3 weeks. Chest examination and x-ray were suggestive of right-sided moderate pleural effusion. On finding tender hepatomegaly in abdominal examination, an ultrasonography of abdomen was performed which was suggestive of ruptured hepatic abscess. Cytological examination of both sputum and aspirate from hepatic abscess showed neutrophilic debris mixed with red blood cells. The serological test for antibody to Entamoeba histolytica was positive. Computerised tomography-guided trans-tracheal fistulogram demonstrated presence of hepato-bronchial fistula. Our case responded to conservative management. Follow-up ultrasonography after 6 months showed total abolition of abscess cavity and sealing of bronchial connection. Amoebic liver abscess complicating into hepato-bronchial fistula is thought to be an obsolete entity in contemporary world. But possibility of amoebic liver abscess should be kept in mind while managing a patient of haemoptysis in appropriate clinical setting in endemic areas.

Alveolar rhabdomyosarcoma with multiple distal metastases. A case report and review of literature.

An 18-year-old boy, presented with a history of right hip pain with movement restriction and proptosis of right eye. There was severe anaemia, febrile neutropaenia and bleeding manifestations. CT scan of right orbit documented a retro orbital mass. MRI revealed a mass on right side of the pelvis with metastatic deposits in spine. Biopsy from that mass revealed alveolar rhabdomyosarcoma. Bone marrow biopsy showed sarcomatous involvement with decrease in all three cell lineages. Chemotherapy was started according to standard protocol. We lost the patient after 3 weeks of initiation of chemotherapy. In our case, the unusual primary site and presentation with multiple distal metastases makes this case stand apart and therefore worth reporting.

An occult filarial infection presenting as chyluria with proteinuria: a case report and review of literature.

Chyluria is the passage of chyle into urine, and develops as a result of communication between the lymphatic system and the urinary system. It is an unusual manifestation of lymphatic filariasis reported mainly from South Asian countries. We report the case of a 38-year-old man from an endemic area who presented with passage of milky urine. Physical examination did not reveal any lymphadenopathy or lymph oedema. Urine tests revealed nephrotic range proteinuria. A 99m technetium sulphur colloid lymphoscintigraphy confirmed connection between lymphatic vessels and the urinary tract. Predominant chyluria with no overt lymphatic filariasis remains an enigma.

Lambert-Eaton myasthenic syndrome and solitary cerebellar metastasis in a patient with occult small-cell lung cancer: a rare experience.

The authors describe a case of 60-year-old male patient presented with a 6 month history of progressive weakness of all the four limbs, ataxia, droopy eyelids and bulbar features. Further laboratory and electrodiagnostic studies confirmed the diagnosis of Lambert-Eaton myasthenic syndrome (LEMS). MRI of the brain showed a cerebellar tumour which, following surgery was revealed to be a metastatic small-cell lung carcinoma. Paraneoplastic LEMS together with solitary cerebellar metastasis was diagnosed but no evidence of primary malignancy was detected. An extensive search for related malignancies failed to get any clue. The patient underwent a total surgical excision of tumour and the histopathology revealed a metastatic small cell carcinoma. This case highlights that rarely both paraneoplastic LEMS and cerebellar mass can precede the primary malignancy causing them.

Peritoneal hydatidosis: A rare form of a common disease.

Hydatid disease caused by Echinococcus granulosus is a common parasitic infection of the liver. Disseminated intra-abdominal hydatid disease may occur following a rupture of the hydatid cyst into the peritoneal cavity producing secondary echinococcosis. Rarely, the cyst may develop de novo in the peritoneal cavity without the involvement of any other intra-abdominal organ. We present a unique case of a 57-year-old man with a primary intra-abdominal hydatid cyst.

Hemophagocytic syndrome in classic dengue Fever.

A 24-year-old previously healthy girl presented with persistent fever, headache, and jaundice. Rapid-test anti-dengue virus IgM antibody was positive but anti-dengue IgG was nonreactive, which is suggestive of primary dengue infection. There was clinical deterioration during empiric antibiotic and symptomatic therapy. Bone marrow examination demonstrated the presence of hemophagocytosis. Diagnosis of dengue fever with virus-associated hemophagocytic syndrome was made according to the diagnostic criteria of the HLH 2004 protocol of the Histiocyte Society. The patient recovered with corticosteroid therapy. A review of literature revealed only a handful of case reports that showed the evidence that this syndrome is caused by dengue virus. Our patient is an interesting case of hemophagocytic syndrome associated with classic dengue fever and contributes an additional case to the existing literature on this topic. This case highlights the need for increased awareness even in infections not typically associated with hemophagocytic syndrome.

A study on endocrine dysfunction in adult males with liver cirrhosis.

Over a period of two years, 72 adult males with liver cirrhosis of different aetiologies were studied in terms of clinical and biochemical evidence of endocrine dysfunctions related to hypothalamic-pituitary-gonadal axis and the thyroid status, and compared with 40 age-matched control subjects. With more advanced disease, a progressive fall in testosterone, leutinising hormone and triiodothyronine and a rise in oestradiol was observed. Severity of the liver disease determined by Child-Turcotte-Pugh class, rather than aetiology (alcoholic or postviral), was the chief determinant of such dysfunctions. The involvement was both central and peripheral, with only peripheral defects at gonadal level in early state but dysfunctions at both the levels in late stage of cirrhosis.