Indian childhood cirrhosis (ICC) & ICC-like diseases: The changing scenario of facts versus notions.

Indian childhood cirrhosis (ICC), a disease considered to have been endemic in and unique to India has now been documented in children of non-Indian origin from other countries. More recently available findings from a large multicentre study sponsored by the Indian Council of Medical Research (ICMR) have dispelled some of the generally accepted notions and have established several new facts on different aspects of the disease. All relevant reports on ICC and ICC-like diseases, till date, were reviewed to obtain a proper perspective on the current state of our understanding on this non-Wilsonian copper overload liver disease. A primary role of exogenous copper in causing the disease was earlier debated on the basis of studies in India but investigators abroad studying some sporadic cases and a series of endemic ICC-like diseases supported a hepatotoxic injury by ingested copper in genetically susceptible infants and children in ICC- like disease and in ICC. Epidemiologic and morphologic findings in the well controlled ICMR study based on 225 cases of ICC and 426 controls, all confirmed on liver biopsy, have however, convincingly refuted this concept. Additionally, this study revealed that unlike what has been believed earlier, older children more than 3 yr age can get the disease and that in its natural course the hepatic histology can transform between the characteristic one considered diagnostic and some other patterns, any one of which can be the morphologic manifestation at first presentation of the patient. Older children and cases with milder morphologic changes at presentation had longer survival. The overall inference from critical analysis of all available data is that ICC and ICC-like diseases clinically manifest in a child of any age though common in younger ones, and a clinical diagnosis must be made in any child with so-called ‘cryptogenic cirrhosis’. Exposure to exogenous copper in food, milk and water should not be a prerequisite for this consideration. A liver biopsy whenever feasible should be mandatory for confirmation with the understanding that the morphologic changes in liver can present a few other patterns besides the characteristic one currently taken to be diagnostic. The ascribed current decline in encountering ICC is likely to be due partly to missing a diagnosis and partly to a true reduction in incidence consequent on time related economic and socio-cultural changes.

Kaposi's sarcoma in a patient with AIDS.

We report a case of a 40 year old HIV infected male, citizen of Somalia who presented with multiple painful, livid reddish brown plaques, papules and nodules on both lower limbs and purplish red nodules on the hard palate. The cutaneous nodular lesions on biopsy showed characteristic features of Kaposi's sarcoma. This case is reported due to paucity of Kaposi's sarcoma in Indian literature.

Sudden death due to cardiac toxoplasmosis.

The recognition of cardiac toxoplasmosis has increased in patients with acquired immunodeficiency syndrome. The functional consequences of toxoplasmosis of heart vary considerably depending on the intensity of inflammatory reaction, the extent of involvement of myocardial muscle fibers by necrosis and intramyocytic presence of tachyzoites of Toxoplasma gondii. This report describes a case of toxoplasma myocarditis that lead to fatal cardiac arrest. To the best of our knowledge, this is the first reported case of cardiac toxoplasmosis in the Indian literature, which has manifested as sudden death.

Meningiomas: report of a hospital-based registry.

This is a hospital-based epidemiologic study of meningiomas. Of 1321 central nervous system tumours, meningiomas constituted 21% of the cases, being the second largest category of a single histologic type after astrocytomas. Of the 267 meningiomas studied, 247 were intra-cranial (92.5%). The age of the patients varied between 6 to 84 years. Histological subclassification is presented and treatment schedules discussed. 261 (98%) meningiomas were histologically benign and 5 were malignant meningiomas (1.9%). A 5-year follow-up was available in most cases, with the help of which it was possible to understand the biological behaviour of various sub-types and the influence of other parameters such as location and treatment schedules. Of note was the fact, that out of 261 patients with benign meningiomas, 11 succumbed in the immediate post-operative period and in 8 of these cases, the tumour was located at the base of the skull.

Penicillium marneffei infection: an AIDS-defining illness.

A 29-year-old HIV seropositive male patient from Manipur presented with fever, cough, weight loss and asymptomatic papules and nodules all over the body. Differential diagnoses of secondary syphilis, histoplasmosis, cryptococcosis and penicilliosis were considered. Histopathological and mycological study of the skin biopsy tissue, and blood culture confirmed the diagnosis of penicilliosis. Although penicilliosis, an AIDS-defining illness, is restricted to Southeast Asia, more and more cases are being recognized in non-endemic countries.

Pune low birth weight study--a six year follow up.

OBJECTIVE: To evaluate the intelligence, visuo-motor perception, emotional problems and preschool skills in low birth weight (LBW) infants and the impact of social and environmental factors on their development. DESIGN: A prospective cohort study. SETTING: Infants discharged from a Neonatal Special Care Unit of a referral hospital with birth weight less than 2000 g followed up in the High Risk Clinic. METHODS: Low birth weight infants were assessed by Stanford Binet Scales of intelligence, Bender Gestalt Test for visuo-motor perception, Human Figure Drawing for emotional indicators and occupational therapy assessment. A detailed evaluation of their environment and socio-economic status was done. Hearing and ophthalmic assessment was also done and the school progress report was scrutinized. RESULTS: Two hundred and one LBW and seventy one control children were assessed. The mean IQ of LBW children was within normal limits (94.3), though significantly lower than controls (101.3). Preterm SGA children had the lowest mean IQ. Visuo-motor perception and preschool skills and language development was poorer in LBW children. There was no difference in the emotional indicators. Thirteen per cent of LBW children had borderline IQ, as compared to 5.6% in controls (p<0.05). Mother's education and spaciousness of the house had a positive impact and chronic medical problems had a negative impact on the IQ. CONCLUSIONS: The mean IQ of LBW children was within normal limits. The incidence of children with borderline intelligence (IQ 70-85) was significantly higher than controls. Mother's education had a positive impact on the intelligence of the children. A longer follow up is necessary to identify "slow learners".

Senile systemic amyloidosis--a case report.

An 85 years old female presented with acute pain and weakness in left lower extremity and doppler evidence of femoropopliteal block was made which subsequently proved fatal. Necropsy revealed extensive amyloid deposition in the heart and amyloid angiopathy in rest of the organs.

Epstein-Barr virus in nasopharyngeal carcinoma in Indian patients.

Formalin fixed paraffin embedded tissue blocks from 40 cases of nasopharyngeal carcinoma were investigated for the presence of Epstein-Barr virus (EBV). Heminested polymerase chain reaction was employed to amplify U 2 region of EBV DNA coding for EBNA 2 gene. This is the first study of its kind carried out in India. EBV was detected in 28 out of 40 (70%) nasopharyngeal carcinomas. Type A EBV was identified in 20 cases (71.4%), type B in 7 cases (25%) and coinfection in one case (3.5%). Either type A, or type B EBV, was identified in 22 out of 23 cases (95.7%) of undifferentiated nasopharyngeal carcinoma and 6 out of 15 cases (40%) of non keratinized squamous carcinoma. The higher incidence of EBV in non keratinized squamous carcinoma of nasopharynx assumes importance in view of the contrary reports in other studies. 26 cases were from Western India, of which 15 (57.6%) showed presence of type A EBV and 2 (7.6%) type B EBV. From Eastern Indian particularly Assam, 4 our of 5 cases showed positivity for type B EBV and 1 a coinfection. Whereas, from Bihar 3 out of 4 cases showed presence of type A EBV. From Middle East (Arabs) type A EBV was detected in 3 out of 5 cases of nasopharyngeal carcinomas. Geographically, type A EBV was far more prevalent in Western India, while in Eastern India particularly Assam, all five vases were positive for type B EBV. Thus, a significant variation in the type of EBV infection was observed in nasopharyngeal carcinoma in different ethnic populations in India.

Primary central nervous system lymphoma.

A clinicopathological analysis of 18 cases of primary intracranial malignant lymphoma encountered in the period 1980 to 1994 is presented. The total SOL's in this period was 924, the incidence of malignant lymphoma working out to 2%. The patients age ranged from 14 to 72 years with maximum prevalence in the sixth and seventh decade. The male to female ratio was 2:1 and the patients presented with evidence of CNS deficit, change in mental status or raised ICI. 15 cases had a single site of involvement while 3 patients had multicentric lesions. As far as could be determined none of the cases had evidence of immunesuppression and test for HIV carried out in five cases was negative. All the tumors were subjected to light microscopy and the diagnosis was confirmed either by ultrastructural examination or immunohistochemistry. 13 tumors were large cell high grade lymphomas while the rest revealed smaller cells. Eleven patients received post operative radiotherapy and two were given post operative chemotherapy. The outcome of the patients was poor in most cases, fifteen out of eighteen died within two years.

Waardenburg syndrome with anisocoria and exotropia.

A case of Waardenburg syndrome with unusual features such as anisocoria, exotropia is reported.

Percutaneous renal biopsy using Monopty needle.

Forty six percutaneous renal biopsies (thirty one native and fifteen transplant kidneys) were performed using the Monopty needle, compared with equal number of biopsies performed using the Travenol Tru-cut needle. The core length of samples obtained ranged from 3-16 mm using Monopty and 5-13 mm using Tru-cut. Adequate tissue was obtained in 65.5% and 80.4% of cases with the use of Monopty and Tru-cut respectively. Both the needles gave equal number of reuses. The use of Tru-cut needle was associated with serious complications like gross haematuria requiring blood transfusions and perinephric haematoma in ten cases whereas only two cases developed haematuria when the Monopty needle was used. In view of its greater safety we have switched over to using the Monopty needle for percutaneous renal bipsies.

The role of initial 5-fluorouracil trabeculectomy in primary glaucoma.

Sixty-eight patients with primary glaucoma involving 68 eyes were divided into two groups: Group I eyes were subjected to trabeculectomy (n = 38) and Group II eyes underwent trabeculectomy followed by subconjunctival injections of 5-fluorouracil (35 mg) (n = 30). After one year follow-up, Group I eyes exhibited reduction of mean intra-ocular tension from 45.7 mm Hg (pre-operative) to 16 mm Hg; optic disc cupping remained unchanged and 24/38 eyes (63%) were found to have field defects (19/38 i.e. 50% had preoperative field defects.) Group II eyes showed a reduction of mean intra-ocular pressure from 47.3 mmHg to 9.3 mmHg after one year. Mean cup disc ratio was lowered from 0.50:1 to 0.46:1 and 17/30 eyes (57%) which had field defects initially continued to exhibit the same. Complications in Group I and II eyes were shallow anterior chamber [8/38 eyes (21%) from Group I and 8/30 eyes (26%) from Group II], posterior synechiae formation in 10/38 eyes (26%) and 8/30 eyes (26%) and cataract progression in 13/38 eyes (34%) and 12/30 eyes (40%) respectively; only Group II eyes had transient superficial keratitis in 9/30 eyes (30%) and thin blebs in 6/30 eyes (20%). The use of 5-fluorouracil after trabeculectomy for primary glaucoma resulted in lowering of intra-ocular pressure, eliminated the need for antiglaucoma medications post-operatively, reduced the galucomatous cup size, and prevented progression of field loss without having a significantly increased complication rate.

Peripheral nerve sheath tumours: an ultrastructural study of 30 cases.

This report deals with the ultrastructural observations of 30 peripheral nerve sheath tumours [PNST], which include 25 schwannomas of acoustic nerve, one schwannoma of cauda equina, one neurofibroma from a case of Von Recklinghausen's disease, one pigmented neurofibroma of spinal nerve root and a malignant schwannoma of frontal region. Interdigitating slender cytoplasmic processes covered with a continuous layer of basal lamina constitute the single most important ultrastructural attribute of Schwann cells. Myelin formation was encountered in the cell processes of four out of 25 acoustic schwannomas. In four cases Microtubular arrays identical to that in an axon were seen in Schwann cells. These two observations require further support by additional cases of PNST studies by electron microscopy. The neurofibroma consisted only of Schwann cells and no ultrastructurally identifiable perineurial cells or fibroblasts were detected. The cells in the pigmented neurofibroma revealed submicroscopic features of both Schwann cell and melanocyte, indicating their common ancestry. A unique case of malignant schwannoma arising from frontal meninges is illustrated and it is emphasized that electron microscopy is mandatory for a correct histogenetic diagnosis of malignant tumours which occur at unexpected anatomical sites.

Pleomorphic intimal sarcoma of pulmonary artery. A case report.

A rare case of pleomorphic intimal sarcoma of pulmonary trunk is reported. The patient presented with symptoms of right ventricular out flow tract (RVOT) obstruction. Metastatic deposits were seen in lungs, diaphragm and thyroid. Bronchial mucosal involvement was also seen. The tumour showed multicentric origin and on electron microscopic examination in a particular cell line was seen.