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Introduction: Management of lysosomal storage disorders (LSDs) requires periodic visits for medical surveillance and hospitalizations. Management of LSDs may have been adversely impacted during the COVID-19 pandemic. Objective: To identify the factors impacting health care for patients with LSDs during the COVID-19 pandemic. Methods: An observational study was conducted in Mumbai comparing infusion practices and reasons for missed infusions for 15 months before March 2020 versus two phases during the pandemic (April 2020–March 2021 and April 2021–March 2022) in patients receiving intravenous enzyme replacement therapy (ERT) and on oral substrate reduction therapy (SRT). Results: Fifteen patients with LSDs were enrolled. Before the pandemic, 6/13 (46%) were receiving ERT at the study site, 4/13 (31%) at a local hospital, and 3/13 (23%) at home; two were on SRT. The median distance traveled for receiving ERT was 37 km, and 4.4 infusions/patient were missed. From April 2020 to March 2021, two more patients opted for home ERT infusions. The median distance traveled for receiving ERT was 37 km, and 11.6 infusions/patient were missed. From April 2021 to March 2022, one more patient opted for home ERT infusions. The median distance traveled for receiving ERT was 7 km, and 5.6 infusions/patient were missed. The pandemic also affected SRT compliance adversely. For all patients, the cause of disrupted treatment was travel curbs (69%) and fear of getting COVID-19 infection (38%). Conclusions: Treatment of LSDs was disrupted during the pandemic, with an increase in missed ERT infusions and SRT doses. [ABSTRACT FROM AUTHOR]

This retrospective study analyzed the quality of 1069 referral letters written by school principals to our learning disability clinic. Utilizing a self-devised checklist having four domains (with 26 items), the audit revealed that in only nine (34.6%) items, the necessary information was available in >90% of referral letters. [ABSTRACT FROM AUTHOR]

Porphyrias are a rare group of inborn errors of metabolism due to defects in the heme biosynthetic pathway. The biochemical hallmark is the overproduction of porphyrin precursors and porphyrin species. Afflicted patients present with a myriad of symptoms causing a diagnostic odyssey. Symptoms often overlap with those of common diseases and may be overlooked unless there is heightened clinical suspicion. We are reporting clinical features and diagnostic challenges in four pediatric patients having variegate porphyria, congenital erythropoietic porphyria, acute intermittent porphyria, and erythropoietic protoporphyria (EPP), who presented with diverse multisystem manifestations. This case series illustrates a logical analysis of symptoms and judicious selection of investigations and the role of genotyping in successfully diagnosing porphyrias. [ABSTRACT FROM AUTHOR]

This retrospective study analyzed the concordance level between clinical and autopsy diagnosis of heart diseases over six years. Utilizing the Goldmann classification, the concordance rate was found to be 38.1%. Major discrepancies (Class I and II) were found in 39% cases and minor (Class III and IV) in 22.9% cases. [ABSTRACT FROM AUTHOR]

Background and Objectives: Students with borderline intellectual functioning ("slow learners") underperform in all school subjects. The primary objective of this study was to evaluate the self-perceived anxiety symptoms of slow learners. Its secondary objective was to analyze impact of sociodemographic variables on their symptoms. Settings and Design: Cross-sectional single-arm questionnaire-based study was conducted in the learning disability clinic of a public medical college in Mumbai. Subjects and Methods: One hundred slow learners aged ≥8 to <18 years were recruited by non-probability sampling. Their anxiety symptoms scores were measured using the Screen for Child Anxiety Related Disorders-Child version (SCARED-C) instrument. Statistical Analysis: Multivariate regression analysis was performed for determining the "independent" impact that variables had on the SCARED-C ("individual subscales" and "overall") scores. Results: Symptoms of "separation anxiety" were present in 40%, followed by "social anxiety" in 32%, "generalized anxiety" in 31%, "panic" in 26%, "significant school avoidance" in 24%; and "overall anxiety" in 38% of slow learners. Multivariate analysis revealed that: (i) co-occurring attention-deficit/hyperactivity disorder was significantly associated with having panic symptoms (P = 0.040), and, (ii) studying in a Secondary School Certificate or Higher Secondary Certificate educational board-affiliated school was significantly associated with having symptoms of "generalized anxiety," "social anxiety," and "overall anxiety" (P = 0.009, P = 0.026, and P = 0.046, respectively). Conclusions: Many slow learners in our city have symptoms of anxiety disorders and overall anxiety. There is an urgent need to screen them for anxiety disorders to facilitate their optimum rehabilitation. [ABSTRACT FROM AUTHOR]

Aims: The primary objective of the present study was to evaluate the economic burden of limited English proficiency (LEP) by estimating its direct, indirect, and intangible costs. A secondary objective was to assess the impact of variables on the economic burden. Design and Setting: A cross-sectional single-arm descriptive study conducted in a learning disability clinic in a public medical college in Mumbai. Subjects and Methods: The study cases (aged ≥8 years and ≤18 years) were recruited by non-probability sampling. A structured questionnaire was used to interview the parent to collect data related to direct and indirect costs. Intangible cost data were collected by documenting the willingness-to-pay value using the contingent valuation technique. Statistical Analysis Used: A multivariate regression model was used to assess the impact of predictor variables on the costs. Results: The direct, indirect, and intangible costs due to LEP were Indian Rupees (INR) 826,736, 3,828,220, and 1,906,300, respectively. Indirect costs comprised 82.2% of the total costs. Expenditure on tuition and remedial education comprised 39.86% and 14.08% of the indirect and direct costs, respectively. The average annual learning disability clinic costs were INR 2,169,146. The average annual total costs per student were INR 42,102. Higher socioeconomic status was predictive of increased "indirect costs", "total costs", and "intangible costs." Conclusion: LEP is a cost-intensive condition (indirect > intangible > direct costs). Non-medical costs are the costliest component of direct costs. Parental loss of earnings is the costliest component of indirect costs. [ABSTRACT FROM AUTHOR]

Background and Objectives: Students with borderline intellectual functioning ("slow learners") underperform in all school subjects. The primary objective of this study was to evaluate the parental-perceived health-related quality of life (HRQoL) of these students. Its secondary objective was to analyze the impact of sociodemographic variables on their HRQoL. Settings and Design: Cross-sectional single-arm questionnaire-based study was conducted in the learning disability clinic in a public medical college in Mumbai. Subjects and Methods: One hundred parents of slow learners aged 8 to 16 years were recruited by non-probability sampling. Their HRQoL scores were measured using the English DISABKIDS chronic generic module parent (proxy) long-version ("DCGM-37-P") instrument. Statistical Analysis: Multiple regression analysis was carried out for determining the "independent" impact that sociodemographic variables had on a poor facet and total score outcomes. Results: Clinically significant deficits were detected in 4 facets, namely: small deficit in "social inclusion"; medium deficits in "independence", "emotion", and "social exclusion"; and large deficit in "total score". Multivariate analysis revealed that: (i) being an only child predicted a poor "emotion" and "social exclusion" facet score outcomes (P = 0.039 and P = 0.024, respectively); (ii) being a female predicted a poor "social inclusion" facet score outcome (P = 0.022); and, (iii) studying in a single-gender school predicted a poor "limitation" facet score outcome (P = 0.020). Conclusions: Parents of slow learners perceive their psychosocial and total HRQoL to be significantly compromised. There is a need to evaluate the HRQoL of slow learners so that optimum rehabilitation can be facilitated. [ABSTRACT FROM AUTHOR]

Background and Objectives: School students with specific learning disabilities (SpLDs) endure academic difficulties, anxiety, and social maladaptation. The primary objective of the present study was to evaluate the emotional intelligence (EI) abilities of these afflicted students. Its secondary objective was to analyze the impact of socio-demographic variables on their EI abilities. Settings and Design: Cross-sectional single-arm questionnaire-based study was conducted in the Learning Disability clinic in a public medical college in Mumbai. Subjects and Methods: SpLD students studying in class standards VII–IX were recruited by non-probability sampling. Their EI (overall, subscales, and settings) scores were measured using the Four EsScale of Emotional Intelligence-Adolescents (FESEI-A) questionnaire; and compared with Indian norm scores by utilizing the Mann - Whitney U test. To evaluate the unadjusted impact that each of the "variables" had on the FESEI-A scores, linear regression or the Mann-Whitney U test, or the Kruskal-Wallis test, was utilized as applicable. Results: SpLD students had similar "overall" EI abilities as their regular peers. Their EI scores in school setting were significantly lower (P = 0.001), but significantly higher in social setting (P = 0.005). At univariate level, presence of co-occurring attention-deficit/hyperactivity disorder was significantly associated with a lower "school setting" score (P = 0.040). Higher socioeconomic status was significantly associated with a higher "overall" score and "family setting" score (P = 0.023 and P= 0.041, respectively). Conclusions: There is an urgent need to evaluate the EI abilities of SpLD students to identify deficits so that optimum rehabilitation can be facilitated. [ABSTRACT FROM AUTHOR]

Background: The pharmacokinetics of primaquine [PQ] have been the subject of studies in both adults and healthy participants. However, there is no study on its pharmacokinetics in a setting of undernourishment. In India, there is evidence to show considerable malnourishment in children that in turn can affect drug pharmacokinetics. Given that the country is moving towards malaria elimination, the present study was planned with the objective of comparing pharmacokinetics of the drug in undernourished children relative to normally nourished children. Materials and Methods: After Institutional Ethics Committee approval, children of either gender between the ages of 5 and 12 years and smear-positive for Plasmodium vivax malaria were included. Nourishment status was determined using the Indian Academy of Pediatrics classification of protein energy malnutrition based on Khadilkar's growth charts. Twelve children each were enrolled in the two groups. PQ was given in the dose of 0.3 mg/kg/d and blood collections were made at 0, 1, 2, 3, 4, 6, 8 and 24 hours post-dosing. Levels were estimated by high-performance liquid chromatography. Chloroquine in the dose of 25 mg/kg was given over three days along with supportive care. Results: Of the 24 children, there were 17 boys and 7 girls. There was a statistically significant difference in the body weight between the undernourished and the normally nourished children [21.5 ± 5.52 vs. 28.8 ± 8.84, P < 0.05]. PQ levels showed wide inter-individual variation in both groups. No significant difference was seen in any pharmacokinetic parameter between the two groups. Discussion: This study adds to the limited body of evidence on the pharmacokinetics of PQ in children with malaria and indicates that the dosing of primaquine could potentially be independent of the nourishment status. [ABSTRACT FROM AUTHOR]

The article offers information on the process of peer review and method for writing good reviews for original research papers. Topics discussed include comparison of the blinded and the open peer review, qualifications of a reviewer, training of reviewers, and attributes or characteristics of a good reviewer.

Aims: The primary objective of this study was to evaluate the economic burden of slow learners (students with "borderline intellectual functioning") by estimating its direct, indirect, and intangible costs. The secondary objective was to assess the impact of variables on the economic burden. Settings and Design: Cross-sectional, single-arm descriptive study. Setting: Learning disability clinic in a public medical college in Mumbai. Materials and Methods: The study cases (age ≥5 - 18 years) were recruited by nonprobability sampling. A structured questionnaire was used to interview the parent to collect data related to direct and indirect costs. Intangible costs data were collected by documenting the willingness-to-pay value using the contingent valuation technique. Statistical Analysis Used: A quantile regression model was used to assess the impact of predictor variables on the costs. Results: The direct, indirect, and intangible costs of slow learners were INR 6,065,915, 10,298,613, and 145,172,800, respectively. Indirect costs comprised 62.9% of the total costs. Expenditure on tuitions, medications, and remedial education comprised 57.38%, 16.18%, and 10.30% of the direct costs, respectively. The average annual total costs of slow learners were INR 3,544,880. The average annual learning disability clinic costs were INR 2,250,194. The average annual total costs per student were INR 57,951. Longer duration of poor school performance was predictive of higher direct and total costs. Conclusion: The economic burden of slow learners is enormous (intangible > indirect > direct costs). Tuitions are the most costly component of direct costs. Parental loss of earnings is the most costly component of indirect costs. [ABSTRACT FROM AUTHOR]

The article describes the case of an 8-year-old boy who had recent coronavirus disease, who presented with intermittent mild-to-moderate fever, anorexia, and worsening dry cough. Topics covered include the medical history of the patient, the findings of the physical and laboratory examinations which led to the diagnosis of spontaneous pneumothoraces complicating acute miliary tuberculosis, and how the COVID-19 infection had further predisposed him to develop spontaneous pneumothoraces.

Aims: The primary objective of the present study was to evaluate the economic burden of specific learning disability (SpLD) by estimating its direct, indirect, and intangible costs. A secondary objective was to assess the impact of variables on the economic burden. Settings and Design: Cross-sectional single-arm descriptive study. Setting: Learning disability clinic in a public medical college in Mumbai. Subjects and Methods: The study cases (aged ≥8 years) were recruited by non-probability sampling. A structured questionnaire was used to interview the parent/guardian to collect data related to direct and indirect costs. Intangible costs data were collected by documenting the willingness-to-pay value using the contingent valuation technique. Statistical Analysis Used: A quantile regression model was used to assess the impact of predictor variables on the costs. Results: The direct, indirect, and intangible costs due to SpLD were Indian Rupees (INR) 5,936,053, 29,261,220, and 42,295,000, respectively. Indirect costs comprised 83.1% of the total costs. Expenditure on tuitions and remedial education comprised 61.61% and 64.39% of the indirect and direct costs, respectively. The average annual learning disability clinic costs were INR 2,169,888. The average annual total costs per student were INR 90,773. Longer duration of poor school performance was predictive of higher direct, indirect, and total costs; and higher socioeconomic status was predictive of lower intangible costs. Conclusion: SpLD is a cost-intensive disability (intangible > indirect > direct costs). Tuitions, which are not the therapy for SpLD, are the most costly component of indirect costs. Remedial education is the most costly component of direct costs. [ABSTRACT FROM AUTHOR]

Intracranial hemorrhage (ICH) is rarely seen in patients with thalassemia. A seven-year-old male, known case of beta-thalassemia major, on irregular packed cell transfusions (elsewhere) and non-compliant with chelation therapy, presented with congestive cardiac failure (Hb-3 gm/dl). He received three packed red cell transfusions over 7 days (cumulative volume 40 cc/kg). On the 9th day, he developed projectile vomiting and two episodes of generalized tonic-clonic convulsions with altered sensorium. He had exaggerated deep tendon reflexes and extensor plantars. CT-scan of brain revealed bilateral acute frontal hematoma with diffuse subarachnoid hemorrhage (frontal and parietal). Coagulation profile was normal. CT-angiography of brain showed diffuse focal areas of reduced caliber of anterior cerebral, middle cerebral, and basilar and internal carotid arteries (likely to be a spasmodic reaction to subarachnoid hemorrhage). He required mechanical ventilation for 4 days and conservative management for the hemorrhage. However, on the 18th day, he developed one episode of generalized tonic-clonic convulsion and his sensorium deteriorated further (without any new ICH) and required repeat mechanical ventilation for 12 days. On the 28th day, he was noticed to have quadriplegia (while on a ventilator). Nerve conduction study (42nd day) revealed severe motor axonal neuropathy (suggesting critical illness polyneuropathy). He improved with physiotherapy and could sit upright and speak sentences at discharge (59th day). The child recovered completely after 3 months. It is wise not to transfuse more than 20 cc/kg of packed red cell volume during each admission and not more than once in a week (exception being congestive cardiac failure) for thalassemia patients. [ABSTRACT FROM AUTHOR]

Background and Objectives: Brain single-photon emission computed tomography (SPECT) assesses brain function through measurement of regional cerebral blood flow. This study was conducted to assess whether students with newly diagnosed specific learning disability (SpLD) show any abnormalities in cerebral cortex perfusion. Settings and Design: Cross-sectional single-arm pilot study in two tertiary care hospitals. Subjects and Methods: Nine students with SpLD were enrolled. Brain SPECT scan was done twice in each student. For the first or "baseline" scan, the student was first made to sit with eyes open in a quiet, dimly lit room for a period of 30–40 min and then injected intravenously with 20 mCi of 99mTc-ECD. An hour later, "baseline scan" was conducted. After a minimum gap of 4 days, a second or "test scan" was conducted, wherein the student performed an age-appropriate curriculum-based test for a period of 30–40 min to activate the areas in central nervous system related to learning before being injected with 20 mCi of 99mTc-ECD. Statistical Analysis Used: Cerebral cortex perfusion at rest and after activation in each student was compared qualitatively by visual analysis and quantitatively using NeuroGam™ software. Results: Visual analysis showed reduction in regional blood flow in temporoparietal areas in both "baseline" and "test" scans. However, when normalization was attempted and comparison done by Talairach analysis using NeuroGam software, no statistically significant change in regional perfusion in temporoparietal areas was appreciated. Conclusion: Brain SPECT scan may serve as a robust tool to identify changes in regional brain perfusion in students with SpLD. [ABSTRACT FROM AUTHOR]

This retrospective study analyzed the level of concordance between clinical and autopsy diagnosis of coarctation of aorta over 10 years. Utilizing the Goldmann classification, the concordance rate was found to be 16%. Major discrepancies (Class I and II) were found in 56% cases and minor discrepancies (Class III and IV) in 28% cases. [ABSTRACT FROM AUTHOR]

Deep vein thrombosis and pulmonary thromboembolism are rare and life threatening emergencies in children. We report an 11-year old female who presented with acute complaints of high grade fever, pain in the left thigh and inability to walk and breathlessness since 6 days. On physical examination, there was a diffuse tender swelling of the left thigh, tachypnea, tachycardia with hyperdynamic precordium and bilateral basal crepitations. Ultrasonography and venous doppler of lower limbs showed mild effusion of left hip joint and thrombus in the left common femoral vein and left external iliac vein suggesting a diagnosis of septic arthritis with thrombophlebitis. The tachypnea and tachycardia which was out of proportion to fever and crepitations on auscultation prompted suspicion of an embolic phenomenon. Radiograph of the chest revealed multiple wedge shaped opacities in the right middle zone and lower zone suggestive of pulmonary embolism and left lower zone consolidation. For corroboration, computed tomography pulmonary angiography and computed tomography of abdomen was performed which showed pulmonary thromboembolism and deep venous thrombosis extending up to infrarenal inferior vena cava. On further workup, magnetic resonance imaging of hips showed left femoral osteomyelitis and multiple intramuscular abscesses in the muscles around the hip joint. Blood culture grew methicillin resistant Staphylococcus aureus. Antibiotics were changed according to culture sensitivity and there was a dramatic response. After four weeks of anticoagulation and antibiotics the child became asymptomatic and thrombus resolved. Thus, it is crucial to consider methicillin resistant Staphylococcus aureus infection as an important infection when we encounter such a clinical scenario. This case report highlights an unusual and potentially life threatening presentation of a virulent strain of a common pathogen, which when diagnosed was completely amenable to treatment. [ABSTRACT FROM AUTHOR]

Aim: Anxiety disorders usually remain undiagnosed in school students owing to the internalized nature of their symptoms. The present study was conducted with the primary objective of evaluating the prevalence of anxiety symptoms in school students in Mumbai. A secondary objective was to assess the impact of variables (age, gender, presence of sibling, and type of school curriculum or school) on anxiety symptoms. Materials and Methods: Study cases (8–15 year olds) were recruited by nonprobability sampling from four English-medium schools. Anxiety was measured using Spence Children's Anxiety Scale (SCAS)-child self-report questionnaire. T-scores (total and subscales) were calculated and cut-off scores of >60 were considered as significant. Results: Symptoms of overall anxiety were present in 10.8% (53/493) of the students. Older students (12–15 year olds) had greater odds of having overall anxiety symptoms (crude OR = 4.36, 95% CI 2.27 to 8.39, P < 0.0001). Symptoms of all anxiety disorders were present in the 493 participants, with obsessions/compulsions and fears of physical injury being the most common (in 29.6% and 27.2%, respectively). Older students and boys had greater odds of having obsessions/compulsions (crude OR = 2.32, 95% CI 1.56 to 3.44, P < 0.0001; and crude OR = 1.54, 95% CI 1.04 to 2.27, P= 0.035, respectively]. Students with sibling (s) had greater odds of having fears of physical injury (crude OR = 0.48, 95% CI 0.30 to 0.78, P= 0.003). Conclusions: There is an urgent need to screen school students in our city for anxiety disorders. [ABSTRACT FROM AUTHOR]

Childhood cerebral X‑linked adrenoleukodystrophy(XALD) typically manifests with symptoms of adrenocortical insufficiency and a variety of neurocognitive and behavioral abnormalities. A major diagnostic clue is the characteristic neuroinflammatory parieto‑occipital white matter lesions on magnetic resonance imaging. This study reports a 5‑year 10‑month old boy presenting with generalized skin hyperpigmentation since 3 years of age. Over the past 9 months, he had developed right‑sided hemiparesis and speech and behavioral abnormalities, which had progressed over 5 months to bilateral hemiparesis. Retrospective analyses of serial brain magnetic resonance images revealed an unusual pattern of lesions involving the internal capsules, corticospinal tracts in the midbrain and brainstem, and cerebellar white matter. The clinical diagnosis of childhood cerebral adrenoleukodystrophy was confirmed by elevated basal levels of adrenocorticotropin hormone and plasma very long chain fatty acid levels. Additionally, sequencing of the ABCD1 gene revealed a novel mutation. The only specific palliative therapy that could be offered after diagnosis was dietary intervention. The patient died within 16 months of onset of neurological symptoms. Awareness that childhood cerebral XALD can present with atypical neuroimaging patterns early in its course may aid diagnosis at a stage when definitive treatment can be attempted and timely genetic counseling be offered to the family. [ABSTRACT FROM AUTHOR]

Pulmonary manifestations are seldom recognized as symptoms of storage disorders. The report describes the diagnostic journey in a 30-month-old male infant, born of a third-degree consanguineous marriage referred to our institute as severe persistent asthma. History revealed that the child had progressively worsening breathlessness and persistent dry cough not associated with fever but accompanied by weight loss. On physical examination, there was growth failure, respiratory distress, clubbing, hepatosplenomegaly, and occasional rhonchi. Blood gas revealed hypoxemia which improved with oxygen administration. Plain X-rays and high-resolution computed tomography of the chest showed perihilar alveolar infiltrates and patchy consolidation. The clinicoradiological features did not support a diagnosis of asthma but favored interstitial lung disease (ILD). Bronchoalveolar lavage was performed as a first-tier investigation. It showed periodic acid-Schiff-negative foamy macrophages. The clues of consanguinity, visceromegaly, ILD, and foamy macrophages in the bronchoalveolar fluid prompted consideration of lysosomal storage disorders as the likely etiology. Gaucher disease and Niemann-Pick disease A/B were ruled out by enzyme estimation. Niemann-Pick disease type C was suspected and confirmed by detecting a homozygous mutation in the NPC2 gene. This case serves to caution physicians against labeling breathlessness in every toddler as asthma. It emphasizes the importance of searching for tell-tale signs such as clubbing and extrapulmonary clues which point to a systemic disease such as lysosomal storage disorders as a primary etiology of chronic respiratory symptoms. [ABSTRACT FROM AUTHOR]

Background and Objectives: School students with specific learning disabilities (SpLDs) experience chronic academic underachievement and resultant stress. The present study aimed to determine if school students with newly diagnosed SpLD were more likely to have anxiety than their regular peers. Materials and Methods: The study cases (aged 8-15 years) were recruited from our institute’s learning disability clinic. The matched controls were recruited from four schools in Mumbai, Maharashtra, India. Anxiety was measured using the Spence Children’s Anxiety Scale (SCAS)-child self-report version questionnaire. Median SCAS scores and the proportion of students with an SCAS score in the “clinical anxiety” range were compared between the groups. Results: SCAS scores were significantly higher in 8-11-year-old learning-disabled male and female students (P < 0.0001 for both groups) and 12-15-year-old female students (P = 0.004), as compared with matched controls. A significantly higher number of learning-disabled students were found to have “clinical anxiety” [24.64% vs 4.35%, crude odds ratio (OR) = 7.19, 95% confidence interval (CI) 2.91-17.78, P = 0.0001], as compared with the controls regardless of gender, age group, presence of comorbid attention-deficit/hyperactivity disorder (ADHD), or associated medical conditions. A significantly higher proportion of 8-11-year-old learning-disabled students, especially males, were found to have “clinical anxiety” as compared with 12-15-year-old learning-disabled students (crude OR = 4.38, 95% CI 1.94-9.92, P = 0.0004). Gender, presence of comorbid ADHD or associated medical conditions, and type of school attended or curriculum did not impact the prevalence of “clinical anxiety” in learning-disabled students. Interpretation and Conclusions: Students with newly diagnosed SpLD have greater odds of being “clinically anxious” relative to their regular peers. We recommend screening for anxiety in children with SpLD immediately after diagnosis so that their optimum rehabilitation can be facilitated. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 3-month-old infant with progressing breathlessness, fever and feeding difficulty among other conditions. Examinations showed skeletal abnormalities, enlarged kidneys, and pulmonary hypertension, and the infant had a suggested diagnosis of skeletal ciliopathies like short rib thoracic dysplasia (SRTD). The patient was given supplemental oxygen and oral nifedipine and sildenafil among other treatments and was discharged after 33 days on nasal oxygen.

The article describes the congenital absence of the left atrial appendage (LAA) in a three-month-old male child. Highlights include three reports suggesting ostium secundum atrial septal defect and large muscular ventricular septal defect in a setting of transposition of great arteries, the patient's death related to adenoviral interstitial pneumonitis, and three possibilities of the absence of the LAA at its normal anatomical location.

The article presents precursor B-cell acute lymphoblastic leukemia (ALL), an unusual case of bilateral nephromegaly in an infant. Topics discussed include management of the patient with packed red cell and platelet concentrate transfusions and this case highlighting that infant with precursor B-cell ALL can rarely develop bilateral nephromegaly.