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   Table of Contents - Current issue
September-December 2022
Volume 1 | Issue 3
Page Nos. 51-78

Online since Tuesday, August 29, 2023

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Study of coagulopathy in preterms: A prospective observational study p. 51
Denna Ann Baby, MR Anand, Remesh Preetha, PT Vishnu Mohan
BACKGROUND: A lack of evidence surrounding the assessment of coagulation abnormalities in neonates points to an urgent need to have a consensus on normal values based on gestation and postnatal age, so that we can have a consistent practice in treating abnormal clotting profiles. OBJECTIVES: The primary objective of this study was to study the incidence of bleeding associated with and without coagulopathy in high-risk preterms using NeoBAT score and prothrombin time, activated partial thromboplastin clotting time values with a prospective observational study. The secondary objective of this study was to study the incidence of asymptomatic coagulopathy. MATERIALS AND METHODS: This was a prospective observational study conducted in a level 3 neonatal intensive care unit. All high-risk preterms less than 34 weeks were included in the study. The outcome was to study the incidence of bleeding associated with and without coagulopathy. RESULTS: The incidence of coagulopathy was 69.8%, whereas that of clinical bleeding manifestation was 6.7%. Of these, 6% was associated with coagulopathy and 0.7% was not associated with coagulopathy. Approximately 63.6% had asymptomatic coagulopathy. CONCLUSION: Asymptomatic coagulopathy is a common occurrence in preterms. Most of the coagulopathy may resolve on its own. Fresh frozen plasma administration alone is not protective against clinical bleeding.
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A portrait of COVID-19 pandemic among pediatric patients in South India: An observational study p. 55
Keerthi Kumaran, VK Gireeshan, R Sreeraj, M Vijayakumar, F C A Babu
INTRODUCTION: In a report from Kerala, 7% of coronavirus disease (COVID)-positive patients were constituted by children less than 10 years old. This observational study gives a glimpse to the pattern of COVID-19 disease among the pediatric age group during the first wave of the pandemic. MATERIALS AND METHODS: This observational study was conducted in a COVID hospital in Malappuram from July 2020 to March 2021. Children under 12 years old admitted to the hospital with confirmed COVID-19 infection were included in the study. The study included main symptoms, duration of symptoms, laboratory analysis and relations with severity of disease, interventions required, and follow-up details. All these details were collected using a proforma. RESULTS: Four hundred ninety-two patients were included in the study. A total of 51.4% of these patients were asymptomatic. Only 1.8% of children had severe disease. The mean duration for which the symptoms lasted in each child was 1.9 ± 2.8 days (P = 0.00). There was a significant association between the severity of disease and presence of comorbidities, neutrophil-to-lymphocyte ratio (NLR), C-reactive protein (CRP), liver enzymes, serum ferritin, and X-ray findings (P < 0.05). Some skin lesions were noted in a group of children during the 3 months of follow-up (2%). CONCLUSIONS: During the first wave of COVID-19 pandemic, most of the children had asymptomatic disease. Severe disease was more common in children with chronic comorbidities. NLR, CRP, liver enzymes, serum ferritin, and chest X-ray findings can point toward the severity of the disease. Most of the children improved without any specific treatment. Some skin lesions such as urticaria were noted in the post-COVID period.
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Applied genetics in pediatric practice: Case series on pseudohypoaldosteronism p. 61
M Shagufa, Preetha Remesh, MR Anand, PT Vishnu Mohan, Divya Pachat
Systemic pseudohypoaldosteronism (PHA) type I is a rare genetic disorder resulting from mutations in the subunits of the epithelial sodium channel that manifests as severe salt wasting, hyperkalemia, and metabolic acidosis in infancy. In this article, we report two cases with systemic PHA presented as a shock in the early neonatal period. They were found to have a known mutation in the SCNN1A gene and subsequently required long-term treatment with high-dose fludrocortisone, antihyperkalemic measures, and added salt in diet. In any neonate who presents with hyponatremia, hyperkalemia, metabolic acidosis, dehydration, shock, and failure to thrive, pediatricians should consider the possibility of PHA as it could be potentially lethal if the diagnosis is delayed. It is also important to differentiate such cases from congenital adrenal hyperplasia.
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Imaging clues for an early diagnosis of Nipah encephalitis, a new epidemic alert—2021 p. 64
Smilu Mohanlal, Sujith Janardhanan, Satish Kumar, Manjula Anand, EK Suresh Kumar, KG Ramakrishnan
We report an interesting case of viral encephalitis where neuroimaging and a careful clinicoepidemiologic correlation led to the diagnosis, and we could alert the public health facilities to take measures to contain the spread. A 12-year-old boy presented with fever, headache, photophobia, seizures, and altered sensorium. Magnetic resonance imaging brain revealed T2 FLAIR hyperintensities in bilateral cerebral hemispheres. The differential diagnoses considered were viral/bacterial/rickettsia encephalitis/vasculitis. He also had myocarditis and acute respiratory distress syndrome (ARDS). On careful observation of this triad of encephalitis, myocarditis, ARDS, and previous experience of Nipah encephalitis in North Kerala (Kozhikode), cerebrospinal fluid for Nipah virus isolation was sent and that was positive. Though the boy succumbed to ARDS, health authorities took measures such as quarantine measures, careful disposal of the body, and lockdown measures in the locality to curb the spread. This case report highlights the importance of careful clinicoradiologic epidemiologic correlation in unexplained encephalitis.
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Siblings with Scheie syndrome p. 67
Meenu Anna Varghese, Jo Martin Kuncheria, KN Poornima, Anu Marie Peter
Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. Mucopolysaccharidosis type 1 (MPS-1) results from mutation of the IUA gene on chromosome 4p encoding alpha-L-iduronidase. Clinical features vary from severe Hurler-to-mild Scheie syndrome. A 10-year- and 10-month-old boy, born as the third child of nonconsanguineous marriage presented with opacity of bilateral cornea as well as restricted movements and progressive deformity of the spine, bilateral upper limb and lower limb since birth. History of right inguinal hernia repair at 1 year, B/L carpel tunnel surgery at 8 years, and right lamellar keratoplasty at 9 years. H/o repeated upper respiratory infection present. History of fever triggered seizures at 1.6 years and 2 years. Gives h/o delay in attainment of motor milestones. Presently he has poor scholastic performance with difficulties in writing, learning and performing mathematical calculations. Hearing assessment done was normal. Right eye near vision was 20/100 distance equivalent. The left eye showed light perception only. His 13-year-old sibling who has similar complaints since birth. General examination shows coarse facies with corneal clouding, contracture, and deformity of multiple joints. Anthropometry shows underweight and short stature. Hepatosplenomegaly was present. Routine blood investigations were within normal limits. He had a urine MPS screening done at 3 years of age which was positive for MPS-1 and the diagnosis was confirmed based on nucleic acid isolation later at 6.6 years of age. Echocardiogram done was normal. The child was diagnosed to have MPS-1. He was managed by multidisciplinary approach including Recombinant enzyme replacement therapy and medical and surgical treatment for his disabilities.
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A case of giant axonal neuropathy p. 70
Jo Martin Kuncheria, A Shanavas
Giant axonal neuropathy is a rare autosomal recessive disorder that results in progressive mixed peripheral neuropathy and degeneration of central white matter. Child has short frizzy hair, distichiasis, pes planus, scoliosis, symptoms suggestive of cerebellar involvement, hypotonia, and hyporeflexia. Nerve conduction study showed features of axonal neuropathy. Magnetic resonance imaging brain showed hyperintensities in periventricular and bilateral deep cerebral white matter extending to involve the posterior limb of internal capsule, brain stem and cerebellar white matter. Clinical exome sequencing was positive for giant axonal neuropathy. Conservative management was done including physiotherapy under PMR guidance, family counseling, and follow-up care.
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Twisting tale of neuropathy in a toddler p. 73
Aarthi Balaji, Smilu Mohanlal, Ashraf V Valappil, Divya Pachat, VP Tushar
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An antenatally missed case of harlequin ichthyosis: Report of a rare case and review of literature p. 76
Padmapriya Balakrishnan, Thirunavukkarasu Arun Babu, Sharmila Vijayan
Newborns are particularly susceptible to severe illnesses during the early neonatal period due to various causes. To anticipate congenital diseases in babies before birth and ensure prompt management, it is crucial to gather a detailed medical history, conduct a thorough clinical examination, and perform antenatal ultrasound examinations of the mother. However, certain rare genetic disorders such as harlequin ichthyosis, characterized by thick generalized hyperkeratotic scaling and deep fissuring of the skin, cannot be detected through routine antenatal investigations. This condition often leads to neonatal death in the early days of life and poses significant emotional distress for the parents. We present a case of a newborn displaying symptoms of harlequin ichthyosis who passed away shortly after birth to emphasize the importance of recognizing this condition during the antenatal period, even when routine investigations do not reveal its presence.
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