Sickle cell hepatopathy.

Sickle cell hepatopathy is a well-documented entity that ranges from the self-limiting hepatic right upper quadrant syndrome to the potentially lethal intrahepatic cholestasis and acute hepatic sequestration syndromes. We describe a 26-year-male with homozygous sickle cell disease who had this unique hepatic presentation and was documented to have characteristic findings of cholestasis, portal inflammation and sinusoidal dilatation on histopathology.

Primary duodenal lymphoma producing obstructive jaundice.

Primary lymphoma of the duodenum presenting with obstructive jaundice is a rare entity. We report a case of primary non-Hodgkin's lymphoma of the duodenum producing obstructive jaundice in a middle aged lady, where the concentric thickening of the duodenal wall also gave rise to symptomatic partial high small bowel obstruction in due course. Guided aspiration and flowcytometry established a diagnosis of diffuse large B-cell lymphoma.

Primary amyloidosis presenting as intrahepatic cholestasis.

Hepatic involvement in primary amyloidosis is not rare but is often clinically silent. A mild elevation of the serum alkaline phosphatase level and hepatomegaly are the most common findings. We report a case of primary amyloidosis in an adult male presenting with intrahepatic cholestasis where viral, drug, alcohol, and autoimmune etiologies were all excluded and the definite diagnosis was established by liver biopsy with Congo red staining. Subsequently the patient was found to have monoclonal light chain disorder.

Retinal vasculitis--an initial presentation of systemic lupus erythematosus.

Retinal vasculitis is an intra-ocular inflammatory condition with diverse aetiology and a rare manifestation of systemic lupus erythematosus, often associated with antiphospholipid antibodies. A 13 years male presented with fever for 20 days associated with photosensitive skin rashes. Three years back he had suffered painless, progressive dimness of vision. Then a clinical diagnosis of retinal vascular occlusion was made. Examination revealed his visual acuity was reduced to finger counting at 3 metres distance and extensive retinal vasculitis in the right eye. His serum antinuclear factor was positive in high titre. A final diagnosis was made as systemic lupus erythematosus. He was treated with methylprednisolone. His fever subsided, skin rashes healed and vision did not deteriorate further.

Study of biochemical parameters of ascitic fluid in exudative ascites with special reference to tuberculous peritonitis.

In an attempt to differentiate between three important but clinically similar conditions of exudative ascites like tuberculous peritonitis, spontaneous bacterial peritonitis (SBP) and malignant ascites, we evaluated the biochemical parameters of ascitic fluid as a diagnostic aid. The serum ascitic albumin gradient (SAAG), lactate dehydrogenase (LDH), pH, adenosine deaminase(ADA), carcino-embryonic antigen (CEA) and carbohydrate antigen (CA-125) levels were measured in 36 patients with tuberculous peritonitis, 30 patients with SBP and 30 patients with ascites due to malignant disorders. The LDH level was significantly lower in tuberculous peritonitis patients than in malignant and SBP groups. A value of < 110 U/l gave the assay a sensitivity of 94% and a specificity of 93%, positive predictive value of 89% and negative predictive value of 96% for tuberculous peritonitis. The ADA activity was significantly higher in tuberculous peritonitis group than in the other two groups. A cut off value > 33 U/l gave the ADA test a sensitivity of 89%, specificity of 100%, positive predictive value of 100 % and a negative predictive value of 94% for tuberculosis. A pH value of <7.26 with high SAAG (>11 g/l) predicted SBP with reasonable accuracy. Elevated ascitic fluid CEA (>2 ng/ml) and CA - 125(> 35 U/l) was found exclusively in cases of malignant ascites with a single case of tuberculous peritonitis showing CA-125 value > 35 U/l. All these tests are rapid, non-invasive, and easily reproducible and offer good predictive accuracy which is comparable to that of more invasive procedures like peritoneoscopy and biopsy.

Melnick- needles osteodysplasty presenting with quadriparesis.

Melnick-Needles syndrome or osteodysplasty, a monogenic heritable bone dysplasia, is characterized by a typical facies and characteristic radiological findings. Less than 70 well-documented cases have been reported in literature; most of them were sporadic. We report the first case from Eastern India in an adolescent male, who had cranio-vertebral junction anomalies and presented with spastic quadriparesis at the age of 13 years.

Mitochondrial hepatopathies.

Hepatocyte mitochondrion functions as a cause and as a target of liver injury. Since the mitochondria are under dual control of nuclear DNA and mitochondrial DNA (mtDNA), mutations in genes of both classes have been associated with inherited mitochondrial hepatopathies. Point mutations, deletions, insertions, rearrangements, DNA depletion--all have been identified. Many factors influence the prevalence of mitochondrial disorders, including the mutations rate, inheritance pattern, population structure, and the genetic background. In primary disorders, mitochondrial defect is the primary cause of liver disease often producing fatal hepatic failure in infancy or childhood. In secondary disorders, insult to mitochondria is caused by either a gene defect that affects non-mitochondrial proteins or by an exogenous injury to mitochondria. Diagnosis should be suspected in cases of liver disease with neuromuscular symptoms, multisystem involvement that cannot be explained by a single pathology or rapidly progressive liver failure in early childhood. Laboratory findings in the blood and urine show an altered redox status. Various antioxidants, vitamins, cofactors, and electron acceptors have been for proposed but none is effective. Presence of neuromuscular or extraintestinal involvement in primary disorder precludes the use of liver transplantation.

Hemifacial spasm complicating diabetic ketoacidosis.

Chorea, hemichorea, hemiballismus and other parkinsonian movement disorders have been described in type 1 diabetic patient with uncontrolled hyperglycemia. In comparison, abnormal movements in diabetic ketoacidosis are rare though ketosis due to other causes can cause parkinsonism-like movement disorders. We report two cases of diabetic ketoacidosis where hemifacial spasm was the predominant clinical manifestation for which no organic cause could be detected with relevant investigations. The symptoms subsided with conventional therapy for diabetic ketoacidosis and never recurred.

Adult polycystic liver disease presenting as portal hypertension.

Autosomal dominant polycystic liver disease is a systemic hereditary disorder associated with cyst formation in the ductal organs such as the kidney and liver. Multiple massive cysts are typically found in multiparous women. Portal hypertension as a presenting manifestation is very rare but may be caused by associated hepatic fibrosis or massive hepatic replacement of liver by the cysts. Two cases of adult polycystic liver disease, one in uniparous female and another in a 45-year-old male, both presenting with portal hypertension and without any demonstrable fibrosis in the liver, are reported here.