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Case Reports in Pediatrics publishes case reports and case series related to pediatric subspecialities such as adolescent medicine, cardiology, critical care, dentistry, developmental and behavioral medicine, endocrinology, gastroenterology etc.
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Persistent Diarrhoea after Percutaneous Endoscopic Gastrostomy (PEG) in Paediatric Patient: Lessons from a Complication
Percutaneous endoscopic gastrostomy (PEG) is increasingly used in paediatric population. We report a case of a 4-year-old boy who, two weeks after PEG placement, presented persistent diarrhoea interpreted as intolerance to enteral feeding. His CT scan confirmed the correct placement of gastrostomy, but during gastroscopy, gastrostomy could not be found in the stomach, and the following colonoscopy revealed migration of gastrostomy to the transverse colon. The patient required removal of the misplaced PEG and conservative management of the fistula with surgical replacement of gastrostomy. We faced an unusual presentation of PEG placement complication due to colon interposition during blind gastric puncture. In children with anatomical deformities, previous surgery, or low weight or malnutrition (<10 kg), we suggest laparoscopic-assisted gastrostomy to avoid the risk of a major complication.
Successful Treatment with Antibiotics Alone for Infant Rib Osteomyelitis
Pediatric rib osteomyelitis is a rare disease occurring predominantly in the neonatal period and early childhood and accounting for about 1% of all pediatric osteomyelitis. Compared to osteomyelitis in other parts of the body, pediatric rib osteomyelitis shows few localized findings (such as redness and swelling) and often an indolent lesion as well either of which may delay diagnosis and thus make treatment more difficult. A previously healthy one-year-old girl came to our department with a chief complaint of fever lasting for three days. She was admitted to our department to investigate her fever. At the time of admission, radiographs showed decreased permeability in the left lung field; so, we started antimicrobial therapy on the assumption of pneumonia. On the second day of admission, methicillin-susceptible Staphylococcus aureus was detected in the blood culture. A further, more detailed physical examination revealed some slight left anterior chest swelling. We performed a contrast-enhanced CT scan and an MRI and diagnosed her with rib osteomyelitis complicated with a chest wall abscess. She was given intravenous cefazolin for two weeks, switched to oral cephalexin for four weeks, and then recovered completely. She was treated without surgical intervention, having showed a good response to antimicrobial therapy. Osteomyelitis of the ribs in children is reported to be more common in the lower ribs and to occur more frequently in infants. In many cases, the earliest symptoms are nonspecific, so careful examination to detect any subtle abnormalities—such as swelling or mass—is of key importance for early diagnosis in infants. Regarding treatment, most cases of hematogenous osteomyelitis resolve with antimicrobial therapy alone—although surgical intervention may be required in cases of poor response to antimicrobial therapy. Therefore, early diagnosis of rib osteomyelitis through careful physical examination may reduce the chances of requiring surgical intervention.
An Unusual Diagnosis of Sporadic Type III Osteogenesis Imperfecta in the First Day of Life
Osteogenesis imperfecta (OI) is a group of rare, permanent genetic bone disorders resulting from the mutations in genes encoding type 1 collagen. It usually is inherited by an autosomal dominant pattern, but it can sometimes occur sporadically. Among the four main types, type III is the most severe type which presents with multiple bone fractures, skeletal deformities, blue sclera, hearing, and dental abnormalities. It is estimated that only 1 in 20,000 cases of OI are detected during infancy, and the diagnosis carries a poor prognosis. This case is reported for the rarity of sporadic OI diagnosis in neonates. We present a case of a 1-day-old neonate following a normal vaginal delivery referred to our center in the view of low birth weight and multiple bony deformities. Physical examination revealed an ill-looking child with poor suckling, gross bony deformities in upper and lower limbs, and blue sclera. X-ray showed thin gracile bones with multiple bone fractures. Echocardiography revealed a 4 mm patent ductus arteriosus. The patient was diagnosed with type III OI with patent ductus arteriosus. Though OI is rare in neonates and infants, it should be considered in the differentials in a newborn presenting with multiple bony deformities regardless of family history, history of trauma, or physical abuse. OI is also associated with cardiac anomalies such as the atrial septal defect and patent ductus arteriosus for which echocardiography is recommended routinely.
Self-Injury with Carbamazepine Intoxication in an Elementary School-Aged Child
Carbamazepine is a common anticonvulsant medication used to treat seizure disorders and is generally considered a safe medication. We describe the case of a 9-year-old female who presented with acute altered mental status and respiratory failure requiring mechanical ventilation. She was found to be intoxicated with carbamazepine through a urine drug test which was confirmed by bloodwork. After her medical condition improved, the patient admitted to self-injury through ingestion to cope with the death of a family member. She received a complete psychiatric assessment and was eventually discharged without permanent neurologic sequelae. To our knowledge, this is the first case of intentional self-injury with carbamazepine intoxication in an elementary school-aged child. When intoxication is suspected in children presenting with altered mental status, all medications available at home should be investigated. Preadolescent children may engage in nonfatal self-injury behavior, and diagnosis requires a high index of suspicion.
Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug
We report a girl with drug-resistant seizures, progressive behavioral changes, and cognitive decline. Investigations showed abnormal EEG with frequent high-voltage bifrontotemporal sharp and slow waves, especially during sleep. Seizures were difficult to control, despite the usage of various antiepileptic drugs. Perampanel as an add-on antiepileptic drug appeared efficacious. Due to the recognizable pattern of seizures and EEG findings, a karyotype study was performed which revealed 46 chromosomes with a ring 20 chromosome mosaicism. Ring 20 chromosome is associated with drug-resistant refractory seizures, cognitive decline, and behavioral problems. This case highlights the difficulty and challenge faced in managing drug-resistant refractory seizures associated with ring 20 chromosome. While ring 20 chromosome is often underdiagnosed, one should have a high index of awareness and suspicion of such rare epilepsy syndrome, so that an early diagnosis can be made.
A Report of Rosai–Dorfman Disease in an Adolescent
Rosai–Dorfman disease (RDD) is a rare disease of unknown cause. It is a benign self-limiting condition characterized by the accumulation of activated histiocytes in the sinusoids of lymph nodes and/or extranodal tissues. Massive cervical lymphadenopathy as the initial manifestation tends to raise the initial odds in favour of a lymphoma, and thus reducing the threshold to performing a simple biopsy cannot be overestimated. Herein, we report a 13-year-old adolescent who presented with a progressive posterior left-sided neck swelling. Our diagnosis of RDD was established by demonstrating emperipolesis in histology and S100 positivity in immunohistochemistry as stated in the literature. Although the condition is known to be self-limiting, evidence from the literature and our case management shows that medical therapy can hasten remission in pediatric cases.