Short chain acyl Co-A dehydrogenase deficiency a rare inborn error of metabolism.

Background & objectives: Short chain acyl coenzyme A dehydrogenase deficiency (SCADD) is a rare autosomal recessive inborn error of mitochondrial fatty acid β oxidation. The energy producing fatty acid oxidation pathway is affected at the first step due to deficiency of short chain acyl coA dehydrogenase and is manifested as lethargy, metabolic acidosis and hypoglycaemia. We report a case ofeight day old male neonate born to 32 year old female by caesarean delivery diagnosed with SCADD. Investigations: Blood investigations of haematology, serum electrolytes, and enzymes levels were done. Metabolic screening for TSH, galactosaemia, blood ammonia was also conducted. Results: Serum sample revealed elevated acyl carnitine levels and urine analysis for organic acid showed slightly elevated Methyl malonic acid. The neonate was mechanically ventilated and metabolic acidosis was corrected with 8.4 % sodium bicarbonate andintravenous dextrose. Carnitor syrup 5ml/500mg was started once daily and the neonate improved in general activity along with weight gain. Conclusion: Neonatal screening by biochemical method facilitates earlier diagnosis and, along with effective management prevents morbidity and prolongs survival.

Intensive method of assessment and classification of the bone marrow iron status: A study of 80 patients.

Background: The increasing prevalence of multiple co-morbidities among anemic patients with chronic diseases have made the use of serum ferritin (which is also an acute phase reactant) and transferrin saturation more challenging in diagnosing iron deficiency. Microscopic examination of bone marrow aspirate is the gold standard" for assessing marrow iron store. However, conventional Gale's method assesses iron in marrow fragments alone which provides little valuable information about functional iron deficiency seen in many chronic diseases. Aim: To perform an intensive bone marrow iron grading by assessing iron in fragments, in macrophages around fragments and in erythroblasts and to correlate the marrow iron store results with serum ferritin. Materials and Methods: A descriptive study of Perl's Prussian blue stained bone marrow aspirate smears of 80 adult patients with moderate to severe anemia. Bone marrow iron was assessed by both the Gale's method and the intensive method and correlated with serum ferritin. Results: The intensive grading system revealed normal iron stores in 37.5% cases, depleted iron stores in 16.25% patients while 23.75% and 22.5% patients had functional iron deficiency and combined deficiency, respectively. Mean log ferritin concentration was significantly lower in patients with depleted iron stores (0.91 μg/l) in comparison to those with normal iron stores (2.13 μg/l; P = 0.001), functional iron deficiency (2.65 μg/l; P = 0.000), or combined deficiency (2.04 μg/l; P = 0.002). Conclusion: Intense marrow iron examination provides a useful iron status classification which is of particular importance in cases of chronic diseases and inflammation.

Naevus lipomatosus superficialis: clinicopathological study of a case.

Naevus lipomatosus superficialis is an uncommon skin disorder characterized by the presence of fat cells in the dermis. It is clinically benign and said to be a developmental anomaly. The histological features and the theories of histogenesis have been discussed.

Assessment of the immune and nutritional status of the host in childhood diarrhoea due to cryptosporidium.

Cryptosporidium oocysts were detected microscopically in the concentrated faecal smears (stained by modified kinyoun's acid fast stain) in 13 out of 100 (13 per cent) cases of acute diarrhoea (AD < 2 weeks duration), 7 out of 50 (14 per cent) cases of chronic diarrhoea (CD > 2 weeks duration) and none in 50 age matched controls. The grades of malnutrition of the cases and controls were calculated by the weight for age criteria and the immune status assessed by the levels of serum immunoglobulins and SIgA in duodenal fluids. Malnutrition was observed in 6 out of 13 cases (46.1 per cent) in acute and 6 out of 7 cases (85.71 per cent) in chronic cryptosporidial diarrhoeas. There was no significant statistical difference (P > 0.05) in serum immunoglobulins and SIgA levels in chronic cryptosporidiosis. SIgA was significantly reduced (P > 0.05) in cases of acute cryptosporidiosis. Cryptosporidium is an important cause of symptomatic infection in apparently immunocompetent children not having been detected in a single non-diarrhoeal control. Further a low SIgA could contribute to acute symptomatic cryptosporidiosis by favouring colonization with the parasite.