[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background: Child sexual abuse is highly prevalent in India, both among boys and girls; however, few studies have studied sexual abuse of male children. The present case report highlights the challenges of diagnosis and management of a young boy who presented with marked hyperactivity and sexual acting out behaviors subsequent to his repeated exposure to pornography. Clinical Description: H, a 5-year-old boy, presented with a 2 month history of hyperactivity, poor concentration, inappropriate touching, and self-stimulation. H also displayed sexual knowledge beyond that of what would be expected of his age and developmental level. The Child Sexual Behavior Inventory was administered that showed an unusually high score on the (sexual abuse specific items, sexual behaviors that are atypical for child's age and gender). Management and Outcome: The use of therapeutic interventions such as building a therapeutic relationship, environmental change, family counseling, and nondirective play therapy helped in remitting most of the child's behavioral difficulties. Conclusions: Parents need to be active participants in the digital lives of their children and exercise controls on what they view online. Since pediatricians are often the first points of contact for a child with aberrant behaviors, they need to be aware of the law on the protection of children against sexual offenses and the range of types of sexual offenses against children.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background: Fibroadenoma is the most common breast lesion among pediatric female population. A giant fibroadenoma is rare, characterized by a rapidly growing tumor, with a mass >5 cm diameter in greatest dimension and/or weighing more than 500 gm. Phyllodes tumor range from benign to malignant. Both have similar presentation. Clinical Description: An 11-year-old girl presented with rapidly progressive, painless increase in the size of the left breast over 2 months. Local examination revealed a firm nontender mass involving the upper inner and outer quadrants of the left breast along with the retro-areolar region. The mass was mobile and measured approximately 11 cm × 10 cm. The overlying skin was normal, although with dilated veins and free from underlying mass. The clinical phenotype was suggestive a phyllodes tumor in view of rapid progression and large size. However, the ultrasonogram and fine-needle aspiration cytology favored a fibroadenoma. Management: It was decided to perform a “Nipple-areolar complex sparing lumpectomy” with deferment of reconstructive surgery. Adequate lump excision was achieved while maintaining proper cosmesis. The histopathological findings of the excision biopsy confirmed the final diagnosis of fibroadenoma. Conclusion: A large breast mass in a pediatric/adolescent girl poses a diagnostic dilemma to the treating surgeon. Proper evaluation is needed to differentiate between several benign breast masses from malignant ones. The definitive diagnosis is made histologically. Total excision of the lump with conservation of nipple and areola is indicated to make a definitive diagnosis and to relieve the compression of the normal breast tissue.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background: Kikuchi Fujimoto disease (KFD) is a rare, benign self-limited disease characterized by prolonged regional lymphadenopathy associated with or without systemic signs or symptoms. It is a rare diagnosis in children. Due to the lack of pathognomonic clinical symptoms/signs, KFD poses a significant challenge to the clinician. Its diagnosis is confirmed by lymph node biopsy. Clinical Description: A 12.5-year boy presented with chronic cervical lymphadenopathy of 6-week duration, associated with mild-moderate fever, pain, and weight loss. He had raised erythrocyte sedimentation rate, leukopenia, lymphopenia, and thrombocytopenia. Mantoux test was positive. He was managed as a case of tuberculous lymphadenopathy till the lymph node biopsy confirmed the diagnosis of KFD. Management: The child recovered without medications. There has been no recurrence or relapse in 1.5 years of follow-up. Conclusion: This case report highlights the importance of considering the diagnosis of KFD in children presenting with persistent or chronic lymphadenopathy.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background: Mucormycosis is a highly fatal infection that affects immunocompromised individuals. Treatment is difficult and mortality is high when associated with complications. It is rare as a presenting feature of diabetes mellitus (DM) in children. Clinical Description: We describe a child who presented with extensive rhino-orbital invasive mucormycosis and subsequently diagnosed as Type 1 DM. She further developed cavernous sinus thrombosis and internal carotid artery thrombosis known to be associated with very high risk of mortality. Management: Aggressive medical management with posaconazole and liposomal amphotericin B for 12 weeks and early debridement of orbito-cerebral lesions led to complete resolution. Conclusion: Saving children with complicated extensive invasive mucormycosis is possible with aggressive prolonged antifungal therapy and early debridement of lesions.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background: Clinicians must be aware of phenotypic variability in neurofibromatosis type 1 (NF 1) presentations. There is perhaps a limited understanding on progression of NF 1 in prepubertal years and the subsequent threat to vision. Progressively increasing myopia may go unnoticed under a severely ptotic eyelid that gathers attention, due to a disfiguring mass in patients with NF 1. High myopia may result in recalcitrant amblyopia if not tackled early with multidisciplinary management. Clinical Description: A 12 year old girl had a history of progressively increasing left upper eyelid ptosis due to an upper eyelid mass, first noticed at the age of 1 year and eventually resulted in severe ptosis by the age of 5 years. However, this went unnoticed until she was diagnosed with NF 1 at the age of 12 years. Best corrected visual acuity was 6/6 (Plano) in the right eye (OD) and counting finger 2 m with − 15.0 diopter spheres in the left eye (OS). Peripheral fundus examination was normal in both eyes. Levo elevation and abduction were limited OS. Hypotropia, pulsatile proptosis, and depression of the globe were clinically attributable to enlargement of orbital tissues and lid problems. Contrast enhanced computed tomography scan revealed plexiform NF with extraconal extensions. Axial length was 21.94 mm OD and 28.92 mm OS. B scan ultrasound revealed a posterior staphyloma OS. Management: The patient underwent a debulking surgery of the eyelid mass which on histopathological examination confirmed plexiform NF. Surgery resulted in a cosmetic reduction in ptosis; however, any intervention was relatively too late to rehabilitate the left eye. Conclusions: Eye care certainly has its regional differences. High axial myopia may result in low VA and recalcitrant amblyopia that may go unrecognized and comes with management challenges to the attending ophthalmologist and allied specialties dealing with these cases of NF 1.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

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.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

Background: Weill–Marchesani syndrome (WMS) is a rare heritable connective disorder characterized by short stature, brachydactyly, stiff joints and distinctive ocular manifestations of microspherophakia, myopia, ectopia lentis, and glaucoma. It is caused by either biallelic pathogenic variants in ADAMTS10, ADAMTS17, and LTBP2 or heterozygous pathogenic variants in FBN1 genes. Clinical Description: We describe a case of 6-year-old girl who had short stature, high myopia, and bilateral ectopia lentis. The visual acuity was 6/18 (−25.00/−3.00 × 35) in both the eyes with an intraocular pressure (IOP) 15 mmHg and 17 mmHg in right and left eye, respectively. The clinical exome sequencing identified a heterozygous pathogenic c.2413T>C in FBN1 gene confirming the diagnosis of WMS. Management: The proband was prescribed a trial of contact lenses and she is under regular follow-up. The patient is being regularly monitored for any signs of lens displacement, raised IOP. She has been planned for lens extraction, to prevent glaucoma, in case of any progression of symptoms or rise in IOP. Conclusion: WMS should be suspected in any child with short stature and high myopia. The rarity of this disorder often results in diagnostic delay and dreaded complications of secondary glaucoma and blindness.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

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.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

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.

[ABSTRACT]  [FULL TEXT]  [PDF]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

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 1^st 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.

[ABSTRACT]  [FULL TEXT]  [PDF]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]

[FULL TEXT]  [PDF]