Chandrasekaran Venkatesh

Shaken Baby Syndrome

A 35-day-old male infant with presumed shaken baby syndrome is reported. This first born child to mother educated upto middle school and father tailor by occupation was brought from a remote village 180 kms away from JIPMER. Poor feeding, focal clonic seizures were the initial symptoms. The fundus examination revealed fresh preretinal and vitreous hemorrhages. CT Brain showed right sided subdural hemorrhage with subarachnoid extension and midline shift. He had a normal platelet count and coagulation profile. The sensorium deteriorated and infant expired despite adequate ventilatory support.

Persistent hyperinsulinemic hypoglycemia of infancy due to homozygous KCNJ11 (T294M) mutation

Hyperinsulinemic hypoglycemia is the most common cause of persistent hypoglycemia in infancy. While most of the cases are sporadic more than 100 mutations have been reported in the familial type. The authors report a case of familial hyperinsulinemic hypoglycemia with homozygous T294M mutation of the KCNJ11 gene, which responded to diazoxide therapy.

Dyskeratosis Congenita with Acute Pre B Cell Lymphoblastic Leukemia in a 10-year-old Girl

To the Editor : A 10-y-old girl born to second degree consanguineous parents was admitted with progressive hyperpigmentation of face, trunk and limbs since early childhood, increasing pallor of 5 mo, increasing lethargy and poor appetite of 2 mo duration with limb pain. Examination revealed severe pallor, generalized lymphadenopathy, skin hyperpigmentation interspersed with hypopigmentation over face, trunk and extremities (Fig. 1) and dysplastic nails over toes (Fig. 2). Oral mucosa was hyperpigmented with glossal leukoplakia and dental caries. She was febrile at admission with pulse rate of 124/min and respiratory rate of 40/min. She had bone tenderness, firm splenomegaly and systolic murmur over precordium. Investigations revealed hemoglobin of 3.4 g/dl, total leukocyte count of 5800/cu.mm, with differential count of N30, E3, L28,M3,MC-2, lymphoblasts in peripheral blood smear, and platelet count of 20,000/cumm. Bone marrow examination revealed hypercellular marrow with replacement of marrow spaces by blast cells and suppression of trilineage hematopoiesis. Immunohistochemistry of the marrow and flow cytometry was suggestive of acute pre-B cell lymphoblastic leukemia. Radiological examination was normal. Cerebrospinal fluid analysis was normal. G-banding karyotyping showed normal 46XX. Stress cytogenetics showed no chromosomal breakage or triradial formation. A diagnosis of dyskeratosis congenita (DC) with pre B cell acute lymphoblastic leukemia (ALL) was made and treatment with MCP841 protocol was initiated. Bone marrow remission was achieved without any complications at the end of induction phase of chemotherapy. Dyskeratosis congenita, a rare disorder of telomere biology, is characterized by a classic triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia [1]. DC may be X-linked, autosomal dominant or autosomal recessively inherited [2]. Individuals with DC have very short telomeres in all leukocyte subsets secondary to mutation in telomere genes. However, they do not demonstrate increased chromosomal breakage with cross-linking agents [3]. Diagnosis may be confirmed by gene sequence analysis of DKC1, TINF2, TERT, TERC, NHP, NOP genes. Aplastic anemia and malignancy are frequent in individuals with DC. Excessive telomere shortening and defective DNA

Snake bite: emulating the Indian model might help save thousands of lives.

Williams highlights the non-availability of cost effective anti-snake venom in the developing countries of Africa and South Asia and the need to strengthen the systems in place to tackle this “neglected tropical condition.”1 His suggestions include national or regional snake …

The need for introducing medication vials tailored for pediatric use. Where do we stand

Sir, Intravenous drug therapy is the corner stone of patient management in today’s hospital practice and the discipline of pediatrics is no exception. The drug dosage in pediatrics is usually calculated according to the body weight or surface area leading to less cumulative dose when compared to adults. Unfortunately there are no separate pediatric drug dose formulations for most of the commonly used drugs.[1] It is a common practice to use a fraction of the adult dose vials (which is often an approximate dosage) and to store the remaining drug for future use. This leads to either wastage of precious medicines or a tendency to use pre-diluted, stored and contaminated medicine which may result in adverse reactions, loss of potency and efficacy. This may also be an underlying cause for nosocomial sepsis.[2] Intravenous drug dosage for pediatric use is often limited by the strength of the drugs available commercially, especially in developing countries.[3] Most drug companies are hesitant to manufacture pediatric drug dosage vials due to greater intricacy and cost involved in drug development, relatively small trading volume and the presence of numerous unapproved drug formulations in use. The absence of pediatric specific formulations leaves more than a third of the world’s population at an increased risk for avoidable adverse events, inappropriate dosing, non-adherence, and lack of access to novel drugs.[4] Since in developing countries like India where sepsis is the leading cause of mortality necessitating the use of antibiotics, it is high time the medical fraternity realizes this potential lacuna in treating pediatric patients. We feel that the pharmaceutical majors should realize the urgent need to introduce commonly used drugs, especially life-saving medicines in doses suitable for pediatric use so that the basic right of every child to receive safe medication is not jeopardized.

Nitazoxanide use in Rota Viral Diarrhea. Cure or Controversy

Sir There are numerous unapproved drug formulations available for acute watery diarrhea which promises quick relief of symptoms. The new entrant to that ever-growing list is nitazoxanide. This molecule is being promoted as magical cure for a wide range of enteric infections, not only bacterial but also ‘viral’. The extent to which drug companies push their molecules to the medical fraternity is quite startling. We came across one such campaign in which couple of medical representatives from a leading drug company were indoctrinating the benefits of nitazoxanide in rota-viral diarrhea. They stated that the drug is being used by most of the practicing pediatricians in all viral diarrheas and urged us to do so. They had referenced their claim to a small randomized controlled trial (RCT) published recently [1] and a sentence that appears in the current edition of Nelson’s Text book of Pediatrics, which states that “Nitazoxanide, an anti-infective agent, has been effective in the treatment of a wide variety of pathogens including Cryptosporidum parvum, Giardia lamblia, Entamoeba histolytica, Blastocystis hominis, C. difficile, and rotavirus” which was again based on the same RCT [2]. The study which was being quoted was done in 38 children aged 5 months to 7 years to find the effect of nitazoxanide in rotaviral diarrhea. End point studied was the time from first dose of the drug to resolution of symptoms and was significantly low in children who received a 3 day course of nitazoxanide compared to those who received placebo. The same investigator had also done an analogous study in 50 adult patients with similar results [3]. These results, although promising, cannot by itself be taken as a quality evidence for the use of nitazoxanide in rotaviral diarrhea. As most of the diarrheas in children are viral in etiology and self-limiting in nature, we feel that unnecessary antibiotics are not only irrational but also unscientific. The effectiveness of nitazoxanide in viral diarrhea, if any, should be analyzed thoroughly by reviewing the available results from large, well designed and multicentric RCTs in developing countries before drawing any ambiguous conclusions. In view of high disease burden in developing countries, plots to exploit the situation by pharma majors to their economic benefit should be condemned strictly. Evidence based precise guidelines for the use of antibiotics in acute watery diarrhea especially for developing countries should be adopted before prescribing drugs pushed by pharmaceutical companies.

Who is holding us back from providing integrative and holistic health care

Dear Editor, During one of our not‐so‐busy childhood asthma clinics, a resident presented the clinical case summary of a young boy with mild persistent asthma. The child was brought in by his father, and was lost to follow‐up for the past six months only to end up with an acute severe exacerbation occurring one week earlier. Since then, they have come back twice. I asked the boy`s father the reason for the loss to follow‐up. To this, the boy’s father replied “I had been giving Siddha medicine (an alternative Indian system of medicine) to my child all these days”. I was not able to hold back my surprise (or rather displeasure) and asked him the reason for revisiting us now, if he was already taking Siddha medicines. The boy`s father replied “when my son was on those medicines he was totally asymptomatic until last week when he had an attack. So I thought I might ask you if I can continue to take those medicines along with what you are about to prescribe”. Hastily I retorted, “I am an allopathic doctor and I cannot comment on whether you can take both forms of treatment as I am unaware about Siddha medicines and I fear it might result in adverse drug reaction of some kind. You should probably continue to follow one system of medicine in which you have placed your complete faith”. The boy`s father was perplexed and did not know how to react, but agreed to think about it and get back to me. In the meantime I had put the boy back on controller and reliever medications, and saw him off.

A plea to preserve the sanctity of a "Textbook"

299 Dear Editor, We are in the age of an electronic revolution that is gradually changing the face of education worldwide. E-books are competing with textbooks for attention, with most youth turning to their net books, I-pads and android gizmos to access educational resources. Medical education is no exception to this grand scheme of things. The Nelson Textbook of Pediatrics, the most widely prescribed textbook for pediatric medicine in most medical schools throughout the world, is no longer a stand-alone textbook. First published in 1933, the book has stood the test of time for more than 80 years. The actual textbook cost is very high in third world countries [Table 1] due to high inflation seen in recent years. To bring down the cost of the textbook, the publisher maintains a separate edition for developing countries; and these have gone through major modifications related to volume numbers, paper quality and print quality in each of the successive editions (especially the last four). The latest edition (19) is a case in point where the editors have conveniently and generously used the comment “for the full continuation of the chapter, please visit the Nelson Textbook of Pediatrics website at www.expertconsult.com”.

Post Streptococcal Myalgia: An Under-recognized Clinical Syndrome

Post streptococcal myalgia (PSM) is an under-recognized non-infectious sequelae of streptococcal infection in children. The authors report a case of PSM in an 11-year-old boy along with a review of previously reported cases. The diagnosis of PSM should be considered in children presenting with acute myalgia and high Anti-Streptolysin O titres.