Acute appendicitis is a grave and life-threatening condition in children, accounting for one to two cases per 10,000 in children less than four years' old. Prompt diagnosis and management are imperative to prevent serious complications, such as abscess formation, perforation, bowel obstruction, peritonitis, and sepsis. In young children, however, the diagnosis of this condition is challenging. The delayed utilization of imaging may further delay the diagnosis due to concerns of exposure to ionizing radiation. Even with a prompt diagnosis, controversy persists regarding medical versus operative management in these young patients.We report a case of a 21-month-old female who presented with fever, non-bilious, non-bloody emesis, and decreased tolerance for liquids and solids. The initial physical exam and imaging were suggestive of non-obstructive bowel distention. The patient was admitted to the pediatric floor. Overnight, the patient’s condition deteriorated severely and became septic. Repeat imaging revealed a 9-cm appendicular mass and a ruptured appendix. Antibiotic coverage was then broadened and the patient was transferred to the critical care unit for more intensive management. The patient’s septic condition improved over the upcoming few days and the parents elected to perform an elective appendectomy following resolution of the condition.Atypical presentations are common in this population. The difficulty in obtaining a reliable history and physical examination findings makes the diagnosis even more challenging. Moreover, concerns with radiation exposure may delay the diagnosis and increase the risk of perforation and peritonitis. Thus, clinicians should have a high index of suspicion for acute appendicitis, particularly in young children, as this condition is commonly missed on initial presentation.
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder with clinical features consisting of poikiloderma, skeletal abnormalities, sparse hair, absent or scanty eyelashes and eyebrows and short stature. Patients with RTS due to genetic mutations of genes carry a high risk of developing osteosarcoma during childhood. Because of this, early genetic diagnosis is important. Here, we describe a 14-year-old white boy who developed an erythematous rash on both cheeks before the age of 3 months and was noted to have absent eyelashes and scanty eyebrows. He was found to have compound heterozygous mutations of the gene alleles at the age of 6 months and was diagnosed to have RTS type II. He subsequently developed osteosarcoma at age 10 which was successfully treated, and currently he has been tumour free for over 3 years.
Key Clinical MessageAcute disseminated encephalomyelitis (ADEM) is an autoimmune demyelinating disorder of the central nervous system and can present following influenza A infections as multifocal neurological deficits. ADEM remains a challenging diagnosis, and high clinical suspicious coupled with laboratory investigations and neuroimaging is required to exclude other primary and secondary demyelinating disorders.
A 17-year-old man initially presented to his primary care physician with throat pain for 1 week and was started on amoxicillin. After four additional days of ongoing pain and difficulty swallowing with decreased oral intake, he presented to the emergency department. Exam showed fullness to the right posterior oropharynx and palpable mass in the right neck without stridor. Initial imaging was soft tissue neck CT with contrast, which showed cystic 8 cm mass in the parapharyngeal space. Patient additionally underwent MRI, which showed an 8.6 cm mass in the right posterior oropharynx with obliteration of the vallecula. Differential diagnosis included abscess; therefore, ear, nose, and throat (ENT) specialist was consulted for possible drainage. Intraoperatively, there was no abscess; alternatively a biopsy was obtained, which was identified by pathology as a ganglioneuroma. Patient was referred to paediatric ENT specialist, underwent extensive resection confirming diagnosis of ganglioneuroma and did well postoperatively.
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