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   Table of Contents - Current issue
July-September 2021
Volume 1 | Issue 3
Page Nos. 161-226

Online since Tuesday, August 31, 2021

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It's raining stories - Hallelujah Highly accessed article p. 161
Sharmila Banerjee Mukherjee
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Acute severe necrotizing pancreatitis: A manifestation of multisystem inflammatory syndrome in children? Highly accessed article p. 162
Sailen Kumar Bana, Shivani Deswal, Neelam Mohan
Background: Multisystem inflammatory syndrome in children (MIS-C) is commonly being diagnosed among children, 2–8 weeks following a severe acute respiratory syndrome (SARS)-CoV-2 infection. Several cases of pancreatitis have been reported with SARS-CoV-2 infection in adults but only one in a 10-year-old girl with MIS-C. Clinical Description: During the coronavirus disease (COVID) pandemic, a 1-year-old girl presented with high-grade fever for 3 days and vomiting and abdominal pain for a day. Her parents had contracted SARS COVID-2 infection 5 weeks earlier. At admission, she was febrile, drowsy, had tachycardia, tachypnea, and hypotension. Salient examination findings included bilateral nonpurulent conjunctivitis, diminished air entry and crepitation's in the left basal zone, distended abdomen with guarding and tenderness in the left hypochondrium and epigastrium. The diagnostic criteria of MIS-C were fulfilled, but not for classical or incomplete Kawasaki disease. Biochemical markers and radiological findings confirmed acute severe necrotizing pancreatitis. No other etiological cause of pancreatitis could be identified. Management: Intravenous immunoglobulins were started as per protocol. Steroids were withheld in view of the pancreatitis. The child showed dramatic resolution in fever and rapid improvement in clinical and biochemical parameters. Conclusion: Pancreatitis may be a presentation of MIS-C, either due to a direct cytopathic effect or secondary to a hyper-inflammatory response. A high index of suspicion should be kept in children with fever and severe pain abdomen with recent history of COVID-19 infection in the patient or close contacts.
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Right ventricular cardiac abscess secondary to traumatic osteomyelitis: Hematogenous dissemination from metaphysis to myocardium p. 166
Maitri Choudhary, Munesh Tomar
Background: A cardiac abscess is a suppurative infection involving cardiac tissues as myocardium, endocardium, and valves (native or prosthetic). The abscess could form as a direct extension of a preexisting cardiac focus such as bacterial endocarditis or from a distant septic focus leading to bacteremia. Clinical Description: We report an immunocompetent 3-year-old-child with a structurally normal heart presenting in septic shock secondary to right ventricle (RV) myocardial abscess. The abscess developed following hematogenous spread from neglected posttraumatic osteomyelitis of the left ankle and the causative organism was identified as methicillin sensitive Staphylococcus aureus. Management: Prompt action by a multidisciplinary team helped in reaching the diagnosis, effective management of septic shock, emergency open heart surgical removal of the septic mass, and concomitant lower limb arthrotomy saved the child from a bad outcome. Conclusion: This case reiterates the need for aggressive treatment of the open skeletal wound to prevent bacteremia and complications such as myocardial abscess. In a child presenting in septic shock, a quick point-of-care echocardiography is critical in ruling out possible underlying cardiac conditions such as bacterial endocarditis, myocardial abscess, or pericardial effusion. A high index of clinical suspicion is required to make a prompt diagnosis and aggressive medical and surgical intervention for good outcomes.
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Infantile sternal tuberculosis: A rare condition p. 170
Maulin M Shah, Gaurav Gupta, Pranav Modi, S Baldev, Prajapati
Background: Tuberculosis (TB) of sternum is one of the rarest forms of skeletal TB. Incidence of sternal TB has been calculated to be <1.5% amongst osteo-articular TB, with very few cases reported in infants. Due to its subtle signs and symptoms, early diagnosis of this entity becomes a challenge. Clinical Description: We reported case of 6-month-old boy who presented with complaints of progressively increasing swelling at the anterior chest wall. Radiological, histological, and microbiological investigations helped establish a diagnosis of infantile sternal TB. Management: Drainage of the lesion and excision of affected necrotic tissue was done. Culture and histopathological examination were suggestive of tubercular osteomyelitis of sternum. Weight adjusted antitubercular medications were given for 1 year. At 3 years of follow-up, the lesion had healed well without any recurrence, sinus formation or local deformity. Conclusions: High index of suspicion and detailed diagnostic work up are required for early diagnosis and management of infantile sternal tuberculous osteomyelitis.
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Neonatal scrub typhus – A sepsis mimic p. 173
Jagruthi Reddy, Nishanth Rajan, Sridevi Dinakaran, Lalitha Krishnan
Background: Scrub typhus is the most prevalent rickettsial infection in India. It is caused by Orientia tsutsugamushi. Although there are few reports suggesting vertical transmission from the mother to baby, it is extremely rare. Clinical Description: We describe a 1-day-old baby who was referred to us for respiratory distress and diagnosed as meconium aspiration syndrome, the clinical features of which resolved by the 10th day. The baby developed fever on the 11th day of life and was detected to have developed pallor and hepatosplenomegaly. History revealed maternal fever preceding and continuing well beyond delivery. Management: Late-onset sepsis was initially suspected in the baby. After reviewing the maternal history, transplacental transmission of scrub typhus was considered. Immunoglobulin M enzyme-linked immunosorbent assay was positive in the mother–baby dyad, but polymerase chain reaction for scrub typhus was negative. However, both exhibited a dramatic response in resolution of fever with doxycycline in the former and clarithromycin in the latter. On follow-up, the baby was well and gaining weight. Conclusion: Proper history and early initiation of management are important for reducing the morbidity and mortality of newborns with scrub typhus.
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Aplastic Anemia Complicating Systemic Lupus Erythematosus p. 176
Anu Maheshwari, Gulnaz Nadri, Rajesh Meena, Deonath Mahto
Background: Systemic lupus erythematosus (SLE) is a multisystem autoimmune disorder with a myriad of hematological manifestations. Pancytopenia occurs in 10%–50% of cases in these patients. Rare cases of aplastic anemia have been reported with SLE but mostly in adults. Clinical Description: A 6-year-old child presented with fever and painful multiple joint swelling for 6 months. Examination revealed pallor and polyarthritis involving small and large joints. Hemogram, bone marrow aspiration, and biopsy established the diagnosis of aplastic anemia. Since the clinical phenotype encompassed a childhood-onset multisystemic (musculoskeletal and hematological) chronic illness with constitutional symptoms, we considered included connective tissue disorders (CTDs), systemic-onset juvenile idiopathic arthritis with macrophage activation syndrome, hematological malignancy, and disseminated tuberculosis as differentials. Investigations confirmed the diagnosis of SLE. Management: The patient was treated with pulse doses of intravenous methylprednisolone for SLE and daily oral cyclosporine and supportive transfusions for aplastic anemia. She showed improvement in the constitutional symptoms and hematological parameters within 6 weeks. The arthritis resolved within 6 months of therapy, after which she was continued on low-dose steroids, hydroxychloroquine, and methotrexate. Conclusion: In cases of aplastic anemia with atypical features of CTDs such as arthritis, uveitis, oral ulcers, rash, and photosensitivity should be worked up for underlying autoimmune disorders.
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Novel heterozygous mutation of CIITA gene presenting with recurrent infections and systemic lupus erythematosus p. 179
Aakash Chandran Chidambaram, Jaikumar Govindaswamy Ramamoorthy, Sriram Krishnamurthy, Prabhu Manivannan, Pediredla Karunakar
Background: The expression of major histocompatibility complex (MHC) molecule is essential for homeostasis of the immune system. The expression of MHC-II is regulated by the master regulator for transcription, the Class II transactivator (CIITA) gene. Homozygous mutations affecting the CIITA gene result in bare lymphocyte syndrome type-II, but the clinical manifestations of heterozygous mutations are not well reported. Clinical Description: Herein, we describe the roller coaster course of a 6-year-old child who had presented with recurrent infections in infancy and systemic lupus erythematosus (SLE) in toddler age, who was later found to have heterozygous mutation in the CIITA gene. Management: The child was managed with immunosuppression for SLE and monthly intravenous immunoglobulin replacement therapy and daily cotrimoxazole prophylaxis for features of immunodeficiency. Conclusion: This case report aims to provide more insight into the clinical features associated with heterozygous mutations of CIITA.
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Multidisciplinary early intervention in a child with autism and childhood apraxia of speech p. 182
Samir H Dalwai, Anushka Parakh, Manish Garg, Barkha Chawla, Madhura Rohit Joshi, Shruti Kumari
Background: Childhood apraxia of speech (CAS) is a neurological pediatric speech sound disorder, in which the precision and consistency of movements underlying speech are impaired in the absence of neuromuscular deficits. It is a common comorbidity in autism spectrum disorder (ASD) and requires detailed analysis to identify the typical errors in speech. Clinical Description: A 25-month-old boy presented with speech delay. The evaluation revealed an impaired absence of meaningful speech, impaired nonverbal communication and social skills, repetitive atypical behavior, and sensory issues with normal hearing. Although autism was suspected, the diagnosis could not be established, and intervention was started based on strengths and weaknesses. There was minimal improvement and discordance between receptive and expressive language was noted. Manifestations evolved over 15 months until a diagnosis of ASD was established by standard protocol. CAS was diagnosed at almost 4 years when a few meaningful words had developed and errors in oral movements, articulation, and phonological development were identified. Management and Outcome: Initially, the child received multidisciplinary management customized according to the strengths, weaknesses, and needs of the child. There was minimal improvement in communication, social interaction, and overall functioning. Identification of autism and slight changes in intervention did not bring about any remarkable changes. Once CAS was identified, and the focus of management changed there was a remarkable improvement in speech, and mild improvement in other aspects. Conclusion: Nonverbal or minimally verbal children with autism should be evaluated for CAS, especially if there is discordance between expressive and receptive language.
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Role of virtual psychosocial interventions in coping with mental health challenges of children during the pandemic p. 186
Bhavneet Bharti, Prahbhjot Malhi
Background: The morbidity and mortality rates associated with the COVID-19 infection among children, fortunately, continue to be low; nevertheless, children are experiencing several pandemic-related mental health risks. Clinical Description: DK, a 9-year-old boy, was referred to the pediatrics department of a tertiary care center for compulsive oxygen saturation checking behaviors that developed a few weeks after the sudden demise of his maternal grandfather due to the COVID-19 infection. A diagnosis of adjustment disorder with emotional and behavioral problems was made as per the Diagnostic and Statistical Manual of Mental Disorder-5 criteria. Management: A comprehensive management plan was drawn out that focused on encouraging the parents to engage in productive and meaningful conversations regarding death being a permanent event in the life cycle. The child was asked to draw so that he could share his feelings and was also taught “belly breathing” that used a script of 4 counts in and 4 counts out by sharing child-orientated educational videos. The family was asked to chalk out a structured routine with time for creative artwork besides completing academic assignments. Follow-up after a month of therapy revealed an overall improvement in behavior, increased interactions with teachers and peers, and decline in compulsive checking of oxygen saturation levels. Conclusions: There is a need to expand digital treatment options for children, especially during times of public health emergencies, by using online psychoeducation resources, mental health apps, and conducting online therapy sessions.
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Desaturation during feeding in a term neonate due to 20p duplication syndrome p. 190
Kadirvel Karthikeyan, Chandra Kumar Natarajan, Sumathisri Ramachandran
Background: Feeding problems are common in preterm neonates of which desaturation during direct feeding is a known entity. However, term newborns have acceptable range of fall in saturation while feeding directly. Here, we report a term newborn with dysmorphic features had desaturation during feeding. Clinical Description: A male baby born to second-degree consanguineous parents at term who was managed for transient tachypnea of newborn had fall in saturation beyond acceptable range during feeding. He had low set ears, high-arched palate, thin upper lip, clinodactyly, and anal tag. Management: The baby was subjected for thorough exploration of respiratory/gastrointestinal/neurological systems which did not reveal attributable findings. Clinical exome sequencing revealed 20p duplication. He was started on orogastric feeding and could be gradually changed to direct feeding at 4 months of age. Conclusions: This report may improve the understanding toward approach to feeding problems in term neonates and also about phenotypic features of 20 p duplication which is less reported.
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Fatty liver in a child: Looking beyond nonalcoholic fatty liver disease p. 193
Jaya Agarwal, Ajmal Hasan, Mayank Mehrotra, Rashmi Kapoor
Background: Cholesteryl ester storage disease (CESD) is a rare genetic condition caused due to deficiency of the enzyme lysosomal acid lipase (LAL). The condition is characterized by poor growth, dyslipidemia, and fatty liver. There is currently no data on the prevalence of this condition in the Indian population. It can easily be confused with nonalcoholic fatty liver disease (NAFLD). Clinical Description: We report the case of 4-year-old boy who presented to a pediatrician with poor growth. He was born to a nonconsanguineous couple with an uneventful perinatal period. The parents felt that the child was not growing well for 2 years. At presentation, he was hemodynamically stable and anthropometrically normal. He had pallor and hepatosplenomegaly. Rest of the examination was within normal limits. Preliminary workup showed persistent transaminitis. Further evaluation revealed dyslipidemia and hepatic steatosis in the liver fibroscan. The workup for other common causes of chronic liver disease was negative, and the clinical features were suggestive of CESD. Enzyme testing is required for the confirmation of this diagnosis, which was not available at our center or any outsourcing labs. Management: The diagnosis of cholesteryl ester storage disease was confirmed by next-generation sequencing (NGS) with multigene panel targeting the condition. At present, this child is in process to get registered for enzyme replacement therapy. Conclusions: LAL deficiency is a rare and difficult to diagnose entity. It should be considered as a differential diagnosis in children presenting with chronic liver disease with dyslipidemia and in lean children with NAFLD. For rare disorders where enzyme testing is not available, NGS can be utilized for diagnosis.
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Cecal duplication: An unusual presentation p. 196
Monika Kaushal, Ayush Kaushal, Karthika Sasidharan, Sharmishtha Gupta
Background: Enteric duplication cysts are rare congenital malformations that are most commonly found in the ileum and ileocecal junction, followed by the esophagus, stomach, and duodenum. Although most present in the 1st 2 years, they are often difficult to diagnose as both presentation and radiological findings can be variable and nonspecific. Clinical Description: We present the case report of an 11-month-old child who presented with nonbilious vomiting and diarrhea. There was no fever, abdominal distension, blood in stools, or crying on defecation. A provisional diagnosis of acute gastroenteritis was kept and management started as per the standard protocol. Management: A series of investigations were carried out when the child did not improve and developed bilious vomiting. Ultrasound findings were suggestive of an ileal duplication cyst which was confirmed by magnetic resonance imaging. The child then underwent surgery where cecal duplication cyst was confirmed, which was previously missed due to a malpositioned cecum. Conclusion: Gastrointestinal duplication cysts are rare developmental anomalies that may present as an acute abdomen in a young child. The possibility of the duplication cyst should be kept as a differential diagnosis in a child presenting with unexplained vomiting, abdominal distension, or pain. Early suspicion, investigation, and intervention help in faster recovery with minimal complications.
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Neonatal marfan syndrome due to missense mutation in exon 26 of fbn1 gene p. 199
Hitesh Patel, Seema Balasubramaniam
Background: Neonatal Marfan syndrome (MFS) lies at the most severe end of the MFS clinical spectrum, sharing some characteristics of MFS, but with a more severe clinical phenotype, slightly variable genotype, and a poor prognosis. We report a case of neonatal MFS diagnosed antenatally and in whom diagnosis was established postnatally by clinical exome sequencing. Clinical Description: A routine antenatal ultrasonography identified a dilated aortic root, oligohydramnios, fetal femur, and long bones length >99th percentile for the period of gestation findings in a fetus at 35 weeks of gestation. The baby was born by a cesarean section due to nonprogress of the labor. At birth, he had multiple anomalies including bilaterally cloudy cornea, bluish sclera, long slender fingers, hyperflexion of the wrist, ankle joints, and pulsatile precordium. Management: The patient developed severe respiratory distress immediately after birth and was intubated and initiated on positive pressure ventilation. The baby was supportive of fluid and inotropic management. The diagnosis was established based on characteristic echocardiographic findings and identification of a likely pathogenic variant disrupting the p.Cys1068 amino acid residue in FBN1, located at exon 26, which is the “neonatal” region known to be associated with neonatal MFS. The baby succumbed. Conclusion: Although neonatal MFS has a poor prognosis, multidisciplinary intervention is required to determine the best course of action.
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Abrupt onset tiny pigmented macules on soles caused by cydnidae bugs p. 202
Dinesh Prasad Asati, Ashish Gupta
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Infantile hemangioma treated with systemic propranolol p. 203
Rashmi Samir Mahajan, Disha Sanjay Baxi
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Cerebrospinal fluid rhinorrhea in a child with recurrent pyogenic meningitis p. 205
Madhu S Pujar, P Megha, M Narasinga Raj
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Peristaltic waves: A clinical clue of infantile hypertrophic pyloric stenosis p. 206
Rajeev Pothala, Kishore Kumar Narahari, Chanchal Kumar
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Managing a child with epilepsy: The value of primary care and three-stage assessment p. 207
Gargi Goel, Pavitra Mohan, Sanjana Brahmawar Mohan
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Pattern recognition of bizarre eye movements: Greatly used but meagerly utilized p. 209
Arjun Kurup, Sachendra Badal, Vishal Sondhi
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Mild blunt head injury in children: The dilemma of imaging and nature of injury p. 211
Sandip Ray, Ankita Goel Sharma, Sukhdeep Singh
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Hereditary pancreatitis: A tale of 50 years p. 214
Anu Maheshwari
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Neo-Quiz 3 p. 217
Amit Upadhyay, Pratima Anand
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Jaundice: From physiological to pathological p. 218
Nidhi Bedi
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An infant with hyperinflated lungs: What's the secret? p. 220
Sachin Singh, Joseph L Mathew, Akshay K Saxena, Prema Menon, Debajyoti Chatterjee, Meenu Singh
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The curious incident of the dog in the nighttime p. 224
Samir Hasan Dalwai
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Clinical crossword: 3 (theme nurturing care) p. 226
Sharmila Banerjee Mukherjee
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