Assessment of a modified Mini-Mental Scale for cognitive functions in children.

This study was conducted to standardize a clinical test to assess cognitive functions in children between 3-14 years and to evaluate its use in patients with encephalopathy. We included 50 children in Group A with non-neurological illness. Another 50 children were included in Group B with encephalopathy due to varied etiologies. The Mini Mental State Examination (MMSE) used in adults was modified, using tests from standardized assessment tools previously used in Indian children. It was administered independently by two observers at admission and after a few days in the two Groups. In Group A, the mean and SD of the score in various age groups were calculated. Sensitivity and specificity of the test in predicting poor outcome with a cut-off score of 10 was calculated at admission and after a mean of 4 days. The average time taken for the test was 6.03 minutes. No significant interobserver variability was found. Cut off abnormal scores calculated as 2 SD below mean in different age groups were 3 to 5 years 24, 6 to 8 years 28, 9 to 11 years 30, 12 to 14 years 35. In children with encephalopathy a score below 10 predicted poor outcome with a sensitivity of 35 percent and specificity of 100 percent at admission. Retest after 4 days had sensitivity and specificity of 68 percent and 100 percent respectively. We conclude that the modified Child MMSE may be used as a screening test to assess and monitor cognitive functions in children.

Thrombotic thrombocytopenic purpura.

A 6-year-old boy presented with microangiopathic hemolytic anemia, thrombo-cytopenia, altered sensorium and intractable bleeding. A diagnosis of thrombotic thrombocytopenic purpura was made and the child recovered dramatically after plasmapheresis. Recent developments in the understanding of TTP are reviewed, including the importance of a metaloprotease required to cleave multimers of von Willibrand factor.

Biotinidase deficiency--a treatable entity.

Biotinidase deficiency is a well recognised treatable cause of a wide spectrum of progressive neurological symptoms. Recent reports have stressed the need to screen children with early onset of seizures, encephalopathy, neurodevelopmental delay, skin rash and alopecia. Enzyme estimation remains the conclusive test. We present a patient with biotinidase deficiency suspected on the above clinical grounds and diagnosed on the basis of metabolic acidosis, raised blood lactate, ketonuria and positive dinitrophenylhydrazine (DNPH) test and confirmed on urinary organic acid profile. Supplementation with biotin resulted in marked clinical improvement and normalisation of metabolic parameters. Thus the clinician should be alert to simple clinical pointers which aid in early diagnosis of these disorders.

Cholestatic jaundice due to congenital Toxoplasma gondii infection.

A case of congenital toxoplasmosis manifesting as hepatosplenomegaly and cholestatic jaundice in a 4 month old child is reported. To the best of our knowledge this is the first report of cholestatic jaundice due to congenital toxoplasmosis from India. The child was successfully treated with sulphadiazine and pyremethamine combination.

Clinico-hematological spectrum of auto-immune hemolytic anemia: an Indian experience.

Twenty-one patients of autoimmune hemolytic anemia (AIHA), aged 2 months to 57 years were analyzed. The common presenting feature was pallor (89%), fever (38%), Jaundice (43%) and hepatomegaly and splenomegaly was seen in 76% and 81% respectively. Fifteen cases were of idiopathic etiology and in 6 cases the etiology could be identified as systemic lupus erythematosus, systemic sclerosis, pregnancy, maternal AIHA, typhoid fever and myelodysplastic syndrome (one each). Hemoglobin level ranged between 1.9 to 11.7 gm/dl (mean 6.8 gm/dl) and reticulocyte counts between 6% to 42% (mean (20.2%). Four patients had thrombocytopenia. Direct antiglobulin test (DAT) was positive in 19 and indirect antiglobulin test (IAT) in 7 cases. There was no correlation between DAT positivity and severity of anemia. All patients had warm antibodies of IgG type. Ten of fourteen patients responded to steroid therapy. Patients with secondary AIHA had a significantly poorer prognosis compared to the idiopathic group.