bluuebunny/crossref_metadata_2025_split huggingface dataset:
Neonatal Marfan Syndrome Due to Missense Mutation in Exon 26 of Fbn1 Gene
Authors: Patel Hitesh , Balasubramaniam Seema 
Published: November 2023

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.
Pericecal Hernia
Authors: Anand Mugdha , Sahi Puneet Kaur 
Published: November 2023

Background:
Internal hernias involve prolapse of any viscus through normal or abnormal mesenteric or peritoneal aperture and constitute <1% of all cases of hernia. Pericecal hernia is one form of internal hernia rarely reported in the pediatric population.

Clinical Description:
We describe the case of a 10-year-old boy with underlying tetralogy of Fallot, who presented with third episode of severe abdominal pain, requiring hospital admission with tenderness in the umbilical and right iliac quadrants, voluntary guarding but no organomegaly or abdominal distension, and preserved bowel sounds.

Management:
Baseline investigations (complete blood count, C-reactive protein, erythrocyte sedimentation rate, blood culture sensitivity, and stool and urine microscopy) and serum amylase and lipase were normal. Ultrasound showed mesenteric lymphadenopathy but no pancreatitis or appendicitis. Computed tomography (CT) demonstrated circumferential wall thickening in distal ileum with clustering of distal ileal loops, posterior and lateral to the cecum, extending into right paracolic gutter, suggestive of pericecal hernia. Child received conservative management and improved. Definitive surgical reduction was deferred due to negative parental consent.

Conclusion:
To conclude, internal abdominal hernia is rare in children with nonspecific clinical presentation. CT should be considered when underlying etiology of acute abdomen is not found on the basis of history, examination, and baseline investigative workup. Early intervention helps in reducing the morbidity and mortality to great extent.
Multidisciplinary Early Intervention in a Child with Autism and Childhood Apraxia of Speech
Authors: Dalwai Samir H. , Parakh Anushka , Garg Manish , Chawla Barkha , Joshi Madhura Rohit , Kumari Shruti 
Published: November 2023

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.
Neonatal Scrub Typhus – A Sepsis Mimic
Authors: Reddy Jagruthi , Rajan Nishanth , Dinakaran Sridevi , Krishnan Lalitha 
Published: November 2023

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.
Permanent Neonatal Diabetes Mellitus in an Indian Infant Due to a Novel Mutation in the Glucokinase Gene
Authors: Surender Kagithapu , Kartikeswar Gouda Ankula Prasad , Mounika Veldanda , Baske Kishore 
Published: November 2023

Background:
Neonatal diabetes mellitus (NDM) is a rare condition, usually genetic in etiology, that presents with hyperglycemia requiring insulin within the first 6 months of life. Most cases of permanent NDM are caused by mutations in the KCNJ11 or ABCC8 gene, which are involved in the potassium adenosine triphosphate channels.

Clinical Description:
A 1.88 kg female infant product of a consanguineous marriage was delivered at term by cesarean section for oligohydramnios and intrauterine growth retardation. There was a strong family history of DM involving the mother, father, and grandparents. Clinical examination was normal. Routine blood sugar monitoring identified hyperglycemia at 1 and 3 h. There was no clinical or laboratory evidence of sepsis.

Management:
Persistent hyperglycemia continued that necessitated the administration of insulin from the 1st day onward. The abdominal ultrasonogram was normal. C-peptide was low, indicating poor endogenous insulin production. Genetic analysis revealed a novel mutation in the glucokinase (GCK) gene (p. Glu178Asp). A brief trial of sulfonylureas (glibenclamide) was ineffective. The infant attained control, although with considerable difficulty, on a mixture of NPH and long-acting insulin. After 5 months of follow-up, she is thriving well.

Conclusion:
GCK mutation is a rare but important cause of NDM. To the best of our knowledge, this is the first Indian infant to be reported with a GCK gene mutation.
Cerebral Venous Sinus Thrombosis with Heterozygous Methylenetetrahydrofolate Reductase Mutation
Authors: Maji Prabir , Mishra Sudhir , Singh Deepshikha 
Published: November 2023

Background:
Cerebral venous sinus thrombosis (CSVT) in children is a rare, obscure, but potentially fatal problem. The clinical presentation is varied, as is the multiple underlying causes. CSVT can be seen in patients with inherited or acquired prothrombotic risk factors, even in the absence of an underlying condition. The respective etiological roles of methylenetetrahydrofolate reductase (MTHFR) CG677T mutation and hyperhomocysteinemia in CSVT is still not clear. We present a case of CSVT following a minor head injury, in whom an MTHFR mutation was identified, but with initial normal homocysteine levels.

Clinical Description:
A 9-year-old boy presented with nonaccidental fall followed by persistent headache, projectile vomiting, bradycardia and hypertension suggesting features of raised intracranial pressure. Brain imaging (magnetic resonance venography) showed extensive dural venous sinus thrombosis. Prothrombotic workup revealed heterozygous CG677T polymorphism of the MTHFR gene with normal serum homocysteine, B12 and folate levels.

Management:
The child was given supportive management. Low-molecular-weight heparin was initiated followed by long-term warfarin. There were no neurological deficits at discharge. Six months afterward, there is persistence of thrombosis with partial recanalization in the affected cerebral sinuses. The serum homocysteine level is now marginally elevated.

Conclusion:
Available neuroimaging should be promptly instituted to establish CSVT. A targeted search for prothombotic risk factors should be undertaken but within the proper timeframe. Genetic mutations may be identified accurately in the acute phase, but other factors should be done after 4–6 weeks. The relationship between MTHFR polymorphisms and hyperhomocysteinemia with venous thrombosis is yet to be defined.
Expanding the Phenotype of Neurological Manifestations of Dengue Fever
Authors: Mittal Arpit , Kumar Sonu , Rana Radhamohan , Kaushik Jaya Shankar 
Published: November 2023

Background:
Neurological manifestations following dengue fever are increasingly reported and include encephalopathy, encephalitis, neuro-ophthalmic manifestations or Guillain–Barre syndrome-like presentation. Herein, we expand the clinical spectrum of this neurological repertoire by describing two patients presenting with acute necrotizing encephalopathy of childhood (ANEC) following dengue fever.

Clinical Description:
Both patients presented with features of acute febrile encephalopathy following an acute febrile illness that proved to be dengue fever. Laboratory investigations revealed thrombocytopenia (patient 1), transaminitis and normal findings on cerebrospinal fluid analysis (patient 1 and 2). Both the patients tested positive for NS1 antigen and dengue serology. Neuroimaging revealed bilateral symmetrical thalamic lesions with cerebellar, midbrain, and cortical white matter lesions suggestive of ANEC.

Management:
Patient 1 received supportive treatment while patient 2 received pulse methylprednisolone therapy along with supportive treatment. Both the patients had complete clinic-radiological recovery.

Conclusion:
ANEC following dengue fever may have a relatively benign course, besides the fulminant course that has been described earlier in a single case.
Splenic Abscess
Authors: Sharma Rahul , Marodia Yashi , Dawman Lesa , Bhatia Anmol , Tiewsoh Karalanglin 
Published: November 2023

Background:
Scrub typhus is endemic in the various parts of the world and especially in the Indian subcontinent. Splenic infarcts and abscess are largely unknown in scrub typhus. These can be a source of persistent abdominal pain in the left hypochondriac region.

Clinical Description:
A 9-year-old child presented with a 7-day history of fever, loose stools, respiratory distress, and abdominal pain. On examination, she was febrile, had tachypnea, tachycardia, pallor, and facial puffiness. Systemic examination showed pleural effusion and hepatomegaly. Acute febrile illness with third spacing led to differentials of tropical infections (dengue, scrub typhus, enteric fever, and malaria).

Management:
Dengue, enteric fever, and malaria were ruled out on investigations. Scrub IgM enzyme-linked immunosorbent assay was positive. Ultrasound of the abdomen showed multiple splenic anechoic lesions suggestive of abscesses. Contrast-enhanced computed tomography (CT) confirmed the findings. Ultrasonography-guided aspiration of the lesion revealed blood-stained pus. The gram stain was negative, and culture was sterile. The final diagnosis was scrub typhus with splenic abscess. Her symptoms resolved with doxycycline therapy.

Conclusion:
Involvement of the spleen resulting in infarct and abscess is a rare complication in scrub typhus and can lead to persisting abdominal symptoms. Splenic infarction is not a well-known complication in patients of scrub typhus; hence, it may lead to under diagnosis of the condition. An abdominal ultrasound or if required, CT scan of the abdomen might be needed in cases with persistent abdominal symptoms to rule out this rare complication.
Focal Nodular Hyperplasia with Steroid-Resistant Nephrotic Syndrome
Authors: Agrwal Shipra , Mantan Mukta , Batra Vineeta Vijay 
Published: November 2023

Background:
Paraneoplastic glomerulonephritis (GN) are defined as glomerular lesions not directly related to tumor burden, invasion, or metastasis but induced by products of tumor cells. They are usually associated with solid tumors of gastrointestinal tract and hematological malignancies. Nephrotic syndrome is a rare manifestation of paraneoplastic syndromes, especially in children and biopsy findings are usually those of minimal change disease (MCD) or membranous nephropathy. We describe a case of steroid-resistant nephrotic syndrome with focal nodular hyperplasia (FNH) of liver. To the best of our knowledge, this has not been reported previously.

Clinical Description:
A 9-year-old boy presented with features of nephrotic syndrome and had a significant hepatomegaly. Based on radiological features and histopathological confirmation, the child was diagnosed to have a hepatic tumor consistent with a diagnosis of FNH, and the renal biopsy was suggestive of MCD.

Management:
As FNH did not require a surgical intervention, the nephrotic syndrome was managed with prednisolone initially, but the patient failed to achieve remission and was subsequently started on oral tacrolimus with enalapril and low-dose alternate day prednisolone. Remission of proteinuria was achieved within 2 months, and the child has been in follow-up for the past 18 months and the liver mass has been stable.

Conclusion:
This report suggests a possible paraneoplastic GN (steroid-resistant nephrotic syndrome) with FNH of liver that responded to immunosuppression.
Fructose 1,6 Bisphosphatase Deficiency Mimicking Glycogen Storage Disease as Recurrent Hypoglycemia
Authors: Madhusudan Manoj , Sankar Janani , Ramesh Venkateswari 
Published: November 2023

Background:
Fructose 1,6 Bisphosphatase (FBPase) deficiency is a rare and treatable cause of ketotic hypoglycemia in children. Affected children present in the postneonatal period with recurrent episodes of early morning hypoglycemia typically triggered by an infection. We present a child with recurrent hypoglycemic seizures who was initially considered as glycogen storage disease (GSD) type 1, but on further evaluation, was diagnosed with FBPase deficiency.

Clinical Description:
A 2.5-year-old developmentally normal boy presented with the second episode of hypoglycemic seizure. He had a similar episode following a fasting time of 10 h at 2 years of age. Critical sample analysis revealed ketosis, lactic acidosis, hyperuricemia, and raised triglycerides. He was diagnosed with probable GSD type 1. At 2.5 years of age, he had another episode of hypoglycemic seizures following a similar fasting spell, and critical sample evaluation revealed similar findings. However, he did not have the classical cherubic facies associated with GSD type 1, and a repeat ultrasound abdomen showed normal-sized liver.

Management:
The clinical presentation and critical sample evaluation were suggestive of gluconeogenesis defect. However, the child did not have any other end-organ involvement. Hence, a possibility of FBPase deficiency was considered. The genetic testing confirmed compound heterozygous mutations involving the FBP1 gene.

Conclusion:
Fructose 1,6 bisphosphonate deficiency is a close mimicker of GSD 1.
Congenital Hyperinsulinism
Authors: Goel Neha , Gupta Shobhna , Sharma Rajni , Arya Sugandha 
Published: November 2023

Background:
Congenital hyperinsulinism (CHI) is a rare condition that usually presents in the newborn period. It is characterized by hypoketotic hypoglycemia due to excessive insulin secretion. We describe below a case of CHI due to a paternally inherited mutation of the ABCC8 gene and the challenges in its management.

Clinical Description:
A term female appropriate for gestational age baby with an uneventful antenatal period and delivery presented at 46 h of life with fever, decreased oral acceptance, lethargy, and hypoglycemic seizures. On examination, the baby was febrile but hemodynamically stable with no other clinical evidence of sepsis.

Management:
Child had recurrent episodes of hypoglycemia and required a glucose infusion rate of 12 mg/kg/min for maintaining euglycemia. The baby required diazoxide and octreotide for maintaining euglycemia. The hypoglycemia was nonketotic and associated with hyperinsulinism. 18-fluoro-dihydroxyphenylalanine positron emission tomography-computerized tomography scan showed diffuse uptake in the pancreas suggestive of diffuse hyperinsulinism. However, genetic testing showed heterozygous mutation for paternally transmitted pathogenic ABCC8 splicing variant. The child was stabilized and discharged on oral diazoxide and long-acting octreotide.

Conclusion:
CHI is an important cause of persistent hypoglycemia in neonates. Early diagnosis and management are important to prevent long-term sequalae. Establishing a correct molecular diagnosis is essential to decide about appropriate line of management (surgical/conservative) and provide genetic counseling to the family.
False Negative Critical Congenital Heart Disease Screening Result Arising from a Complex Cardiac Disease with Duct Dependent Systemic Circulation
Authors: Agarwal Abhinav , Loni Ramaning , Al Amer Suad Rashid , Arulselvam Vimalarani , Kalis Neale Nicola 
Published: November 2023

Background:
Critical congenital heart disease (CCHD) encompasses congenital structural heart defects that cause significant morbidity and mortality in the first few weeks of life unless treated and/or require surgery or catheter intervention within the 1st year of life. Since these deteriorate acutely due to their cardiac condition, they may be misdiagnosed as septicemia or perinatal asphyxia, especially in resource-poor settings. The American Academy of Pediatrics recommends universal screening with pulse oximetry after 24 h of life by a simple screening protocol. Although specificity is high, CCHD may be missed. We present a case who screened negative became symptomatic on day 10 of life and was finally diagnosed with a CCHD.

Clinical Description:
A full-term baby with uneventful postnatal course and negative CCHD screening was discharged on day 2 of life. He returned on day 10 with cardiogenic shock. Echocardiography confirmed interrupted aortic arch with large ventricular septal defect (VSD), moderate-sized atrial septal defect (ASD), and a small, restrictive patent ductus arteriosus (PDA). The initial false-negative result was attributed to the presence of large VSD that leads to equalization of preductal and postductal oxygen saturations.

Management:
The baby was stabilized with prostaglandin infusion and ventilatory support. He underwent staged repair with end-to-end anastomosis of interrupted segment and PDA ligation in the first sitting. The postoperative course was uneventful, and the patient was discharged home at day 25 of life. He is planned for VSD and ASD repair in follow-up.

Conclusion:
Complex heart diseases may behave unusually due to complicated inter-related hemodynamics arising from the various lesions. Primary health-care personnel should recognize the limitations of CCHD screening protocol and learn to counsel parents accordingly.
The Victim-Perpetrator Cycle of Sexual Abuse and Offending Behavior
Authors: Bharti Bhavneet , Malhi Prahbhjot , Jafra Bikramjit Singh 
Published: November 2023

Background:
Child sexual abuse (CSA) is highly prevalent in India and a major public health challenge. CSA victims are at a greater risk for developing a range of negative behavioral and psychological outcomes across their life span. In this case report, we highlight the diagnosis and management of a boy who sexually victimized his classmate subsequent to his trauma of being sexually abused by a peer.

Clinical Description:
A 10-year-old child, was referred for sexual acting out behaviors, wherein he had attempted anal penetration of a classmate. History revealed multiple stressors including the death of his mother, history of sexual abuse by an older boy, prolonged exposure to digital sexualized content, father's remarriage, adjustment problems with stepmother, relocation, and a new school. A comprehensive psychosocial evaluation was conducted including the administration of a risk assessment tool, the Juvenile Sex Offender Assessment Protocol-II.

Management:
The mainstay of management was psycho-education that focused on guiding his parents on the importance of intensive parental supervision, academic support, restricting the use of the Internet, and promoting healthy friendships. The child was encouraged to have healthy extracurricular interests, especially outdoor physical activities. Regular follow-up for over a year revealed significant behavioral improvement and no repeat of sexual offending behavior.

Conclusion:
High-risk children need to be provided with supportive family services and linked to child welfare organizations for long-term intervention. Health-care professionals can play a pivotal role in the prevention of inappropriate sexual behaviors and the promotion of healthy development among youth.