Clinical spectrum of inborn errors of metabolism in children in a tertiary care hospital

Background: Inborn Errors of Metabolism (IEM) are a group of disorders occurring due to disruption of normal biochemical process. Prompt diagnosis is often only the beginning of a long medical journey for the affected children and their family. Pediatricians play a vital role in establishing the continuity of care, providing treatment when needed and referrals to specialists. Reported prevalence of IEM is 1 in 2497 newborn though, true pan India prevalence is still unknown. This study was carried to determine the clinical spectrum of inborn errors of metabolism in a tertiary care hospital in South India.Methods: Records of all patients suspected and diagnosed to have inborn errors of metabolism in Institute of Child Health and Hospital for Children, Madras Medical College from April 2018 to October 2019 were sequentially included in the study. Details of clinical presentation, investigations and treatment were noted and analysed.Results: In this study 65 children diagnosed to have inborn errors of metabolism were included in the study and of them 27(41.5%) had derangement in carbohydrate metabolism, 16(24.6%) in protein metabolism and 22(33.9%) in lipid metabolism. Mean age at presentation was 37 months with range of 2 months to 10 years of age. Most common clinical manifestation was poor feeding (67.7%) followed by fever (64.6%) and dyspnea (63.1%). Of these 65 children, mortality was observed in 10 cases (15%).Conclusions: IEM contribute to a significant cause of global child morbidity and mortality. A high index of suspicion is most important in making the diagnosis. IEM should be considered in children with features mimicking sepsis and unexplained course. Screening programmes and prenatal diagnosis of IEM will go a long way in preventing these disorders and early diagnosis helps initiate prompt therapy which is very much essential to prevent lethal complications.

Disseminated Strongyloidiasis in a Immunocompromised Host.

Strongyloidiasis in an immunocompromised patient has the potential to be life threatening. We describe a boy who was on steroids for acute demyelinating myelitis and receiving antibiotics for E.coli UTI and meningitis. He developed anasarca, malabsorption, malnutrition and left ventricular failure. Duodenal biopsy revealed abundant rhabditiform larvae of Strongyloides stercoralis. The diagnosis went unsuspected and proved fatal. This emphasizes the need to have a high index of suspicion and early intervention for S. stercoralis in immunosuppressed persons who present with refractory gastrointestinal symptoms.

Subperiodic, asymptomatic microfilaremia in an adult male from Mysore: a nonendemic area.

Wuchereria bancrofti is found throughout tropics and subtropics like Asia, Pacific islands, Africa, areas of South America and Caribbean basin. In all these areas, except Pacific islands, microfilaria occurs in the periodic form, in which case the microfilaria are found in large numbers in the peripheral blood during night. In the Pacific islands, they occur in the subperiodic form, i.e., microfilaria are present in the peripheral blood at all times and reach the maximum level of parasitemia in the afternoon. Microfilaria of Wuchereria bancrofti and Brugia malayi occurring in India displays a nocturnal periodicity, appearing in large numbers at night. This is the biological adaptation to the nocturnal biting habits of the vector mosquitoes. The maximum density in blood is reported between 10 PM and 2 AM. Here is a case report of asymptomatic microfilaremia showing subperiodicity, which is very unusual in India.

Villous adenoma: a rare tumor of vaginal vault.

Villous adenomas are extremely rare tumors in the vagina and are indistinguishable from their colonic counterparts. These are considered as enteric type neoplasms of lower female genital tract arising from cloacal remnants. The significance of this lesion lies in the fact that it has to be distinguished from metastatic adenocarcinoma from other sites. We present a case of villous adenoma of vaginal vault, a rare site of presentation in a 30-year-old female.

Modularity: a new perspective in biology.

Several decades of research in biochemistry and molecular biology have been devoted for studies on isolated enzymes and proteins. Recent high throughput technologies in genomics and proteomics have resulted in avalanche of information about several genes, proteins and enzymes in variety of living systems. Though these efforts have greatly contributed to the detailed understanding of a large number of individual genes and proteins, this explosion of information has simultaneously brought out the limitations of reductionism in understanding complex biological processes. The genes or gene products do not function in isolation in vivo. A delicate and dynamic molecular architecture is required for precision of the chemical reactions associated with "life". In future, a paradigm shift is, therefore, envisaged, in biology leading to exploration of molecular organizations in physical and genomic context, a subtle transition from conventional molecular biology to modular biology. A module can be defined as an organization of macromolecules performing a synchronous function in a given metabolic pathway. In modular biology, the biological processes of interest are explored as complex systems of functionally interacting macromolecules. The present article describes the perceptions of the concept of modularity, in terms of associations among genes and proteins, presenting a link between reductionist approach and system biology.

Electrophysiological studies with repeated episodes of ischaemia on isolated rat heart.

In order to know the beneficial effect of preconditioning electrocardiography recording were used as tool to assess myocardial malfunction and for this perfusion apparatus was setup. Electrophysiological changes for each heart were recorded during perfusion at 1, 2, 3, 5, 10, 20, 30 and 60 min of global ischaemia and also during the equal period of reperfusion. Recordings dembnstrate that the normal rate was about 240 beats/min with an "R" amplitude of 4mV. During the first ischaemic episode of 1min the rate was 180 +/- 15 beats/min (counted as per 'R' wave deflection), at 2 mins it was 60 +/- 6 beats/min, at 3 min the rate was 40 +/- 2 beats/min, at 5 mins of ischaemia it was 90 +/- 6 beats/min, at 10 min 20 +/- 2 beats/min, at 20 min the rate was 60 +/- 4 beats/min, and at 30 mins there were nil beats/min. The recovery during all the periods of reperfusion was restored to between 120 and 180 beats/min in all episodes. Further after a 60 min of ischaemia the heart stopped to elicit any mechanical response. It is concluded that short term ischaemia can induce a resilient effect on the beating of the heart after a few episodes as seen subsequent to 1 and 2 min of ischaemia. Further, preconditioning was beneficial up to 30 min, beyond which the heart showed signs of fatigue and irreversible injury.