Infective myositis is a rare complication of viral infection, occurring most commonly in children. Here, we present the first case report in Saudi Arabia that describes a four-year-old healthy female who presented to the emergency department with a history of fever associated with coryzal symptoms for four days and a one-day history of bilateral lower limb pain and an inability to walk without assistance. Lower limb pain was not associated with joint pain, swelling, or skin rashes.
View Article and Find Full Text PDFMucopolysaccharidosis type III-B (MPS III), also known as Sanfilippo syndrome, is a rare autosomal recessive lysosomal storage disease that primarily affects the brain and spinal cord. In this report, we describe the case of an eight-year-old female child who presented to the emergency room with an asthma exacerbation. She had coarse facial features, thick eyebrows, deep-seated eyes, thinning coarse hair, and macrocephaly.
View Article and Find Full Text PDFA 19-month-old boy presented to the general pediatric clinic with delayed development and multiple nutritional deficiencies, after being exclusively breastfed up to the age of nine months without vitamin D supplementation. Upon examination, imaging studies, and lab tests, the patient was diagnosed with nutritional rickets. The management included supplementation of cholecalciferol, ferrous sulfate, calcium carbonate, and multivitamin drops to support his diet, and was encouraged to follow a healthy balanced diet.
View Article and Find Full Text PDFMultisystem inflammatory syndrome in children (MIS-C) is being recognized in pediatric patients with COVID-19 since mid-2020. Usually, children with MIS-C have systemic symptoms that develop after an infection with SARS-CoV-2, these symptoms can be unremitting fever, gastrointestinal symptoms, skin rashes, conjunctivitis, cardiac or CNS involvement, and shock. We report a case of a three-year-old boy medically free with no prenatal or postnatal abnormalities who presented with three days history of fever and diarrhea.
View Article and Find Full Text PDFSingleton Merten syndrome (SMS) is one of the rarest multisystem genetic disorders that had been recognized in only a few cases. Patients who have this syndrome often present with calcification of the aorta and heart valves, dental dysplasia, joint calcification, distinct facial features, and growth and developmental delay. Other physical findings usually associated with SMS may include glaucoma, skeletal abnormalities including tendon rupture, muscle weakness, and arthropathy.
View Article and Find Full Text PDFMultisystem inflammatory syndrome in children (MIS-C) is a new emerging severe form of coronavirus disease 2019 (COVID-19) that recently has been recognized in April 2020 in the United States and the United Kingdom. MIS-C is an uncommon condition that mainly affects children who previously had a COVID-19 infection, and it can have serious outcomes if left untreated properly. The full clinical spectrum of this disease is yet not fully determined or understood.
View Article and Find Full Text PDFThe occurrence of rhabdomyolysis in pediatric patients is considered a rare complication that can follow certain viral infections in a syndrome better defined as virus-associated rhabdomyolysis. In this research, we will present the case of a ten-year-old male patient who presented to the emergency department with chief complaints of severe bilateral leg pain and inability to walk. Furthermore, the patient complained of dysphagia for both solid and liquid along with dark-colored urine.
View Article and Find Full Text PDFTrichohepatoenteric syndrome (THES) is a rare autosomal recessive genetic disease characterized by severe early onset diarrhea, woolly and brittle hair, immunodeficiency, and liver disease. A mutation in either or genes can cause the disease. We report a case of a 41-month-old girl who suffered from intractable watery diarrhea, hair abnormality, dysmorphic features, and poor weight gain.
View Article and Find Full Text PDFNatural killer cell deficiency (NKD) occurs when decreased levels of such cells lead to major immunological deficiency in the patient. NK cells participate in tumor cell surveillance, viral infections, and immunoregulation in the body. We report a case of a nine-year-old female child, a known case of neuroblastoma amplified sequence (NBAS) gene mutation in the variant c.
View Article and Find Full Text PDFTrisomy 13 was first described by Patau in 1960. It is a rare genetic disease caused by having an extra copy of chromosome 13. Mosaic trisomy 13 happens when a percentage of the cells are trisomic for chromosome 13, while the remaining cells are euploid.
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