Gaucher’s Disease Presenting with Portal Hypertension.

Gaucher’s disease is a rare lysosomal storage disorder characterized by abnormal accumulation of lipid-laden macrophages in different organs. Though hepatosplenomegaly is commonly found, symptomatic presentation with portal hypertension is rare. We report a child with liver cirrhosis and bleeding esophageal varices who was diagnosed with Gaucher’s disease disease.

Migration and maturation pattern of fetal enteric ganglia: A study of 16 cases.

Aims: To study the migration and developmental pattern of ganglion cells in fetuses aged 9-21 weeks, and to document whether the migration was occurring circumferentially equally in the entire axis or if there were discrepancies in different portions at the same level. Settings and Design: The hypothesis regarding the pathogenesis of Hirschsprung's disease mainly revolves around two schools. One is the single gradient migration of ganglia and the other is a dual gradient migration theory. Understanding the embryological development of enteric ganglia is necessary to study the pathogenesis of intestinal innervation disorders. Materials and Methods: We studied the development of intestinal ganglia in fetuses aged 9-21 weeks. Serial longitudinal sections from the colon were studied, the first one including the squamo-columnar junction, for the presence and the nature of ganglion cells with Hematoxylin and Eosin, and neurone-specific enolase immunostaining. Transverse sections from proximal gut were studied in a similar fashion. Thus, we evaluated the migration pattern as well as the nature of ganglia in the fetuses. We also measured the length of distal aganglionic segment in these growing fetuses. Results: We noted that ganglion cells appear first in the myenteric plexus followed by deep and superficial submucous plexus. We also found evidences in favor of dual migration theory, and the distal aganglionic segment varies around the circumference of the rectal wall. Conclusions: We got evidences in support of a dual migration pattern of intestinal ganglion cells. The level of distal aganglionic segments when measured from squamo-columnar junction varied with the age of gestation and the length was incongruous. The description of distal aganglionic segment may help surgeons while taking biopsies or during operative procedures.

Micro-albuminuria: a predictor of short-term mortality in acute ischaemic stroke.

We studied 89 non-diabetic patients of acute ischaemic stroke, confirmed by imaging, admitted within 24 hours of onset, to investigate the prevalence and significance of micro-albuminuria (MA) as a predictor of in-hospital mortality. Two control groups consisted of 70 patients with non-stroke chronic neurological diseases and 60 age- and sex- matched healthy individuals. Spot urinary albumin-to-creatinine ratio was measured in first morning sample on days 1, 4 and/or 7. Functional status was assessed daily for 7 days by National Institute of Health Stroke Scale (NIHSS). Outcome data were recorded for 14 days. MA was found in 61.79% of acute ischaemic stroke patients on day 1 compared to 13% in non-stroke neurological patients and 7% of healthy controls. Patients with MA were older and had a higher systolic blood pressure. The 14-day disease-specific mortality was higher in patients with MA (25.45%) compared to patients without it (5.88%). High day 1 MA (>100 microg/mg) and rising or static value from day 1 to day 4 or day 7 correlated with statistically more chance of death. Increasing MA had a positive correlation with higher NIHSS score. Thus, MA was found to be a reliable predictor of shortterm in-hospital mortality in acute ischaemic stroke.

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 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.

Panniculitis-like T-cell lymphoma with fatal termination.

A 58-year-old male presented with three weeks history of multiple subcutaneous nodules and fever. Histopathological feature of the nodule was characteristic of panniculitis. Three months later, the patient presented with carvical lymphadenopathy and compressive thoracic myelopathy and a diagnosis of diffuse mixed- cell lymphoma was established. Immunohistochemical study of subcutaneous lesions confirmed their T-cell origin. Chemotherapy was started but patient succumbed to his disease.

An unusual presentation of tuberculous lymphadenitis.

A 43 years male presented with recurrent epistaxis and had generalised lymphadenopathy on examination. No haematological disorder could be established even after bone marrow aspiration and biopsy but the patient was found to have tuberculosis of the lymph node on histopathology, with severe thrombocytopenia in the peripheral blood and increased platelet precursor in the marrow suggesting peripheral platelet destruction. Anti-tuberculous therapy was started but the patient died due to subarachnoid haemorrhage.

Diabetic microvasculopathy: the renal-retinal link.

Manifestations of diabetic microvasculopathy are protean. Graded increases in the severity are recognised in both nephropathy and retinopathy. This study was undertaken with 100 patients of type 2 diabetes mellitus to evaluate how far these graded increments could be linked at each stage and in each patient. The renal parameters studied were the various accepted levels of albuminuria; the retinopathy parameters ranged from normal retina to severe proliferative stages. Corresponding grades were proposed and altered, if required, to reach the best possible correlation. The correlation was attempted though the common link of mean glomerular filtation rates at each level and the concordance of either parameter grade in an individual patient. The correlations of the mean glomerular filtration rate for all propositions of severity were significant. However, there was significant variability of the parameters in an individual patient. This was more with less severe grades but diminished with increased duration. The predictive value of one lesion for the other was low in cases with shorter duration and less severe grades. Probably, shorter duration patients have an interplay of both genetic factors and the assault of the risk factors while in longer duration patients the cumulative risk exposure play the dominant role.

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.