Mamta Muranjan - Academia.edu (original) (raw)

Papers by Mamta Muranjan

Indian journal of pediatrics, 2014

To determine the proportion of patients with birth defects receiving indoor medical care and the ... more To determine the proportion of patients with birth defects receiving indoor medical care and the economic burden incurred by the Institution in terms of cost of hospitalization. This single center, prospective, observational study recruited children>28 d and <12 y of age with birth defect(s) not attributable to an acquired disease. Demographic data, maternal and antenatal data, nature of the defect and information about current and past hospitalization were recorded. Economic burden was estimated by computing bed charges and daily costs incurred by the Institution. Ninety-eight children (mean age was 3.18 y, M : F ratio was 2.4:1) with 268 birth defects represented 13% of indoor admissions. The cardiovascular system was involved in 42.9%. The defect was isolated in 58.2% of cases and 41.8% (9.2% having Down syndrome) had multiple defects. Mean duration of hospital stay (11.23 d) of the birth defect cohort was significantly more (p value=0.0005) than other children (7.81 d). Av...

Indian Journal of …, 2011

No abstract is available. To read the body of this article, please view the PDF online. ... © 201... more No abstract is available. To read the body of this article, please view the PDF online. ... © 2011 Indian Rheumatology Association. Published by Elsevier Inc. All rights reserved. ... Visit SciVerse ScienceDirect to see if you have access via your institution. ... Advertisements on this site ...

BMJ Case Reports, 2015

A toddler presented with a 5-month history of recurrent episodes of cough, wheezing and fever. Be... more A toddler presented with a 5-month history of recurrent episodes of cough, wheezing and fever. Before referral, the toddler had been initially diagnosed as having bronchial asthma and later as having pulmonary tuberculosis. On examination, the patient was febrile and had severe respiratory distress. Chest radiograph and high-resolution CT of the chest revealed collapse of the entire left lung with diffuse bronchiectasis along with a grossly hyperinflated right lung. CT virtual bronchoscopy did not reveal any foreign body. The parents denied any history suggestive of foreign body aspiration and refused consent for rigid bronchoscopy. Nine days after admission, chest physiotherapy was inadvertently prescribed to the patient. Within an hour, the patient experienced acute respiratory deterioration and died. Autopsy revealed a piece of betel nut in the right main bronchus; it had got dislodged from its initial site in the left main bronchus following the chest physiotherapy session.

Indian pediatrics, 2012

Farber disease caused by acid ceramidase deficiency is characterised by a triad of painful and sw... more Farber disease caused by acid ceramidase deficiency is characterised by a triad of painful and swollen joints, subcutaneous nodules, and laryngeal involvement. A one year old female with overlapping features of the classical and type 5 variants is reported. Sialuria and elevated plasma chitotriosidase were unusual findings. A novel mutation of the ASAH 1 gene was detected from DNA extracted from the umbilical stump.

Journal of Cellular Biochemistry, 2014

Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by mutational inactivat... more Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by mutational inactivation of the phenylalanine hydroxylase (PAH) gene. Missense mutations are the most common PAH mutation type detected in PKU patients worldwide. We performed PAH mutation analysis in 27 suspected Indian PKU families (including 7 from our previous study) followed by structure and function analysis of specific missense and splice/insertion-deletion/nonsense mutations, respectively. Of the 27 families, disease-causing mutations were detected in 25. A total of 20 different mutations were identified of which 7 &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;unique&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot; mutations accounted for 13 of 25 mutation positive families. The unique mutations detected exclusively in Indian PKU patients included three recurrent mutations detected in three families each. The 20 mutations included only 5 missense mutations in addition to 5 splice, 4 each nonsense and insertion-deletion mutations, a silent variant in coding region and a 3&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;UTR mutation. One deletion and two nonsense mutations were characterized to confirm significant reduction in mutant transcript levels possibly through activation of nonsense mediated decay. All missense mutations affected conserved amino acid residues and sequence and structure analysis suggested significant perturbations in the enzyme activity of respective mutant proteins. This is probably the first report of identification of a significantly low proportion of missense PAH mutations from PKU families and together with the presence of a high proportion of splice, insertion-deletion, and nonsense mutations, points to a unique PAH mutation profile in Indian PKU patients.

Clinical Dysmorphology, 2001

... The Genetics Division, Department of Pediatrics, KEM Hospital, Mumbai, India. Dr Mamta N. Mur... more ... The Genetics Division, Department of Pediatrics, KEM Hospital, Mumbai, India. Dr Mamta N. Muranjan, 3rd floor, Suman Apts, 16 - B, Naushir Bharucha Marg, Tardeo, Mumbai 400 007, India Tel: 91-22-4136051 Ext. ... 4. Torg JS, DiGeorge AM, Kirkpatrick JA, Trujillo MM. ...

Journal of Pediatric Neurology, 2015

Abstract. An 18-month-old infant who presented with delayed motor development, hypotonia and abse... more Abstract. An 18-month-old infant who presented with delayed motor development, hypotonia and absent deep tendon reflexes and normal cognitive development was diagnosed to have merosin-positive congenital muscular dystrophy (MP-CMD) on the basis of raised serum ...

Journal of Postgraduate Medicine

The Indian Journal of Pediatrics

Phakomatoses or neurocutaneous syndromes are an important cause of seizures in the pediatric age ... more Phakomatoses or neurocutaneous syndromes are an important cause of seizures in the pediatric age group. The Sturge-Weber syndrome may affect the eye, skin and brain at different times. The skin lesions need not always manifest. We report a case of isolated affection of the central nervous system in a case of Sturge-Weber syndrome in the absence of ocular or cutaneous manifestations. Our case qualifies to be called incomplete monosymptomatic leptomeningeal angiomatosis.

Indian journal of pediatrics, Jan 7, 2015

BMJ case reports, 2014

A toddler presented with poor appetite, weight loss and frequent respiratory tract infections for... more A toddler presented with poor appetite, weight loss and frequent respiratory tract infections for the past 6 months, fever and increasing paleness for the past 2 months and bilateral pedal oedema for the past 1 month. Anthropometry confirmed severe acute malnutrition. Clinical and laboratory evaluation revealed that the child also had hypopigmented hair and skin, splenohepatomegaly, pancytopenia and hypoalbuminaemia. The coexistence of hypopigmentation and suspected low immunity prompted us to investigate the child's hair, peripheral blood smear and bone marrow. Hair under light microscopy showed evenly distributed, large melanin granules, suggestive of Chediak-Higashi syndrome (CHS). Peripheral blood smear and bone marrow aspirate examinations revealed abnormal large intracytoplasmic granules, which was diagnostic of CHS. The child's investigations revealed coexistent hemophagocytic lymphohistiocytosis, confirming the diagnosis of CHS in 'accelerated phase', which i...

Indian journal of pediatrics, 2000

Reported below is the association of unusual hand malformations and congenital cardiac anomalies,... more Reported below is the association of unusual hand malformations and congenital cardiac anomalies, possibly a variant of Heart--Hand syndrome IV in a 10 year old male. In addition to these malformations, he also had genitourinary defects. The differential diagnosis of polydactyly with cardiac defects is discussed along with a review of relevant literature.

Indian Journal of Pediatrics, 1995

A 15 month old boy with typical features of congenital nephrotic syndrome (CNS) is reported, who ... more A 15 month old boy with typical features of congenital nephrotic syndrome (CNS) is reported, who in addition to the renal pathology had an associated clinical hypothyroidism with low levels of total and free thyroxine and triiodothyronine and an elevated serum TSH. Improvement in the physical parameters and mental status from thyroid hormone replacement therapy is documented.

The Indian Journal of Pediatrics, 2001

Primary hepatic tumors are uncommon in children and account for only three per cent of the tumors... more Primary hepatic tumors are uncommon in children and account for only three per cent of the tumors in children. Infantile hemangioendothelioma is a rare benign hepatic tumor arising from mesenchymal tissue. Most of the cases present before six months. An unusual presentation and progression of infantile hemangioendothelioma is reported in a 19-month-old female child. The diagnosis was arrived at by radiological and histopathological examination. The patient underwent excision surgery, following which made an uneventful recovery. On follow-up at six months, patient was asymptomatic with no evidence of recurrence. [Indian J Pediatr 2001; 68 (5) : 459-461]

The Indian Journal of Pediatrics, 2014

To study the temporal pattern of lysosomal storage disorders (LSD) from onset of symptoms to the ... more To study the temporal pattern of lysosomal storage disorders (LSD) from onset of symptoms to the final diagnosis and to study the type and the frequency of the disease. Retrospective analysis of the case record forms of the patients attending the Genetic Clinic over a period of 12 y (January 2002- December 2013) was undertaken. Only the data of the patients who had confirmatory enzyme analysis or mutation study for LSD was further analysed. The age at onset, suspicion of the illness, first clinical presentation to a tertiary Genetic centre, and the age at the final diagnosis of these confirmed cases was noted. A total of 5,858 patients were referred to the Genetic clinic in this period. The diagnosis of LSD was suspected in 532 patients (9.08 % of all referrals) and it could be confirmed in 119 cases (2.03 % of all referrals). Maximum patients were diagnosed with Gaucher disease (31.93 %) followed by Mucopolysaccharidoses (20.16 %). Mutation analysis was available in 21 patients (17.64 % of the diagnosed cases). The median time interval between onset and suspicion was 6 mo. The median interval between onset and presentation to the authors&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; Genetic clinic was 12 mo. The median interval between the onset of the disease and its confirmation was 14 mo. The median interval between presentation to the Genetic centre and diagnosis was barely 1 mo. The incidence of LSD at authors&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; centre was 2.03 %, though it was suspected in 9.08 % of patients. The delay in diagnosis was hugely due to the late suspicion and thereby the late referral to a tertiary centre.

The Indian Journal of Pediatrics, 2000

The Indian Journal of Pediatrics, 2012

To study blame ascription among parents of children with Down syndrome and to study its correlati... more To study blame ascription among parents of children with Down syndrome and to study its correlation with sociodemographic factors, parental perception of dysmorphisms and parents&amp;amp;amp;amp;amp;amp;amp;#39; knowledge about Down syndrome. This is a prospective, observational, non-interventional case control study. Interview of biological parents of children with Down syndrome less than 12 y of age was taken. Dysmorphism and parents&amp;amp;amp;amp;amp;amp;amp;#39; feeling of blame was assessed and graded by Likert&amp;amp;amp;amp;amp;amp;amp;#39;s scale. Controls were parents of age and gender matched children with non-genetic chronic disorders. During the study period, 50 mothers and 46 fathers of cases and 50 control parents were interviewed. Parents in the study group were older; the mothers were better educated and had more frequent antenatal visits. There was no significant difference in the proportion of parents counseled but genetic counseling was associated with a significantly higher proportion of parents having knowledge about Down syndrome. A higher proportion of parents perceived their child with Down syndrome being dysmorphic. Blame ascription was not significantly different among the two groups and was seen only in a small proportion of parents of cases. When it did occur, it was directed at health professionals. Blame ascription is not frequent in a cohort of Indian parents of children with Down syndrome even when dysmorphism is perceived by parents. Genetic counseling was associated with better knowledge about Down syndrome in the parents.

The Indian Journal of Pediatrics, 2002

A case of double aneuploidy involving chromosome 21 and Y is reported in an eight-month-old infan... more A case of double aneuploidy involving chromosome 21 and Y is reported in an eight-month-old infant with developmental delay and failure to thrive. Patient had all classical phenotypical features of trisomy 21 except, absence of epicanthal folds. The diagnosis was confirmed by cytogenetic study performed on peripheral blood leucocyte culture using G-banding. Literature review revealed only 17 cases of XYY and trisomy 21 reported so far. No such case is reported in Indian literature. Relevant literature is reviewed and possible effects of trisomy 21 on XYY and that of XYY on trisomy 21 has been discussed. A routine chromosomal study even in patient with classical features of Down syndrome has been advocated. Interestingly, our patient also had left to right shunts at atrial and ductal level and tricuspid regurgitation. Given the rarity of the disorder and scanty published data the incidence, phenotype and recurrence risk are difficult to establish.

The Indian Journal of Pediatrics, 2013

Neonatal diabetes mellitus and organic acidemias, may present with similar features like hypergly... more Neonatal diabetes mellitus and organic acidemias, may present with similar features like hyperglycemia, ketoacidosis and failure to thrive. A four-mo-old girl presented with diabetic ketoacidosis following a febrile respiratory illness during which high anion gap metabolic acidosis and hyperglycemia were detected. She also had hyperammonemia, which led to diagnostic uncertainty. Euglycemia was achieved with insulin injections. Genotyping revealed a homozygous novel mutation of the ABCC8 gene coding for the SUR1 subunit of the pancreatic beta cell potassium channel. Subsequently, the child was successfully transitioned to oral glibenclamide therapy. Developmental delay was noted on follow-up which raised the possibility of intermediate DEND syndrome. A possible cause for hyperammonemia in neonatal diabetes mellitus has been postulated in the discussion.

Indian Pediatrics, 2014

To assess the proportion and pattern of extracardiac birth defects in children with congenital he... more To assess the proportion and pattern of extracardiac birth defects in children with congenital heart defects referred to a tertiary care institute. Cross-sectional observational study from January 2010 to June 2011. Out of 560 children with congenital heart defects, 98 (17.5%) had extracardiac birth defects. Fifty-six had multiple congenital defects; 36 were syndromic cases and 6 had laterality defects. A total of 386 extracardiac birth defects (103 major and 283 minor) were documented, with craniofacial and skeletal birth defects being the commonest. Extracardiac birth defects are common in children with congenital heart defects.