Viral Myositis Secondary to Influenza A in a Preschool Child in Saudi Arabia: A Case Report.

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. The respiratory virus panel was positive for influenza A, and she was found to have increased levels of creatine kinase (CK). The patient was diagnosed with viral myositis secondary to influenza type A infection and was admitted for dehydration. She was treated successfully with supportive measures and oseltamivir. The patient's condition improved three days after the initial presentation and was discharged and followed up to ensure resolution. Extensive laboratory assessment and hospitalization can often be deemed unnecessary, given that the majority of cases of viral myositis carry a positive prognosis and are self-limiting. Therefore, it is important to consider viral myositis as a potential diagnosis for a child presenting with difficulties walking, particularly if these symptoms arise following a respiratory infection.

A Case Report of Rickets Due to Severe Nutritional Deficiencies.

A 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. Upon follow-up at the age of 20 months, the patient showed slight improvement and was able to walk, while at 22 months, the patient was developmentally up to age, and had a good appetite with a slight increase in weight. Despite the high incidence of nutritional deficiencies, there is still a lack of awareness and late presentations of such cases, which can lead to complications if not detected early. This case demonstrates the importance of prevention of similar cases by early education about adequate nutrition to the patients and caregivers and regular follow-ups with the general practitioner for early detection and early supplementation as required.

A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl.

Mucopolysaccharidosis 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. Moreover, she suffered from hepatosplenomegaly, generalized muscular atrophy, global developmental delay, and scoliosis. Urinary glycosaminoglycans (GAGs) were within normal limits. Full genetic testing confirmed the diagnosis of Sanfilippo syndrome type B with a deficiency of alpha-N-acetylglucosaminidase caused by a homozygous mutation c.889C>T, p.(Arg297*) in the NAGLU (N-acetyl-alpha-glucosaminidase) gene. Chromosomal microarray analysis (CMA) showed a copy number variant (CNV) within the 1q24 region. Thus far, CNVs similar in size and position have not been reported in the literature, making this a novel mutation.

A Case of Multisystem Inflammatory Syndrome in a Three-Year-Old Boy.

Multisystem 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. Upon investigation, the patient was found to be COVID-19 polymerase chain reaction (PCR) positive, also had lymphopenia, thrombocytopenia, high inflammatory markers, mildly elevated liver enzymes, high International Normalized Ratio (INR), prothrombin time (PT), partial thromboplastin time (PTT), and upon imaging bilateral peribronchial thickening was noted in a chest X-ray. The patient was treated with intravenous immunoglobulin (IVIG) and other supportive measures were also administered. Eventually, the patient improved, and his inflammatory markers dropped. He was discharged and given a follow-up appointment to further monitor his condition. The findings in this case report correlate with previously published cases that MIS-C have a good prognosis. Although, it is essential that clinicians should be updated on published cases and guidelines to better diagnose, treat, and follow-up MIS-C cases to avoid the long-term sequelae that can affect patients' lives.

Early-Age Manifestation of Singleton Merten Syndrome With Systemic Lupus Erythematosus Features: A Case Report.

Singleton 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. In individuals with SMS, autoimmune diseases like psoriasis and systemic lupus erythematosus (SLE) can occur. In this case, we report a pre-term baby girl that developed congenital aortic calcification, renal hypertension, dental anomalies, multiple joint calcifications, atypical facial features, mild mental retardation, and developmental delay. At 17 years, the patient developed SLE based on positive antinuclear antibody (ANA) with clinical and immunological features like fever, malar rash, pericardial effusion, proteinuria, high ANA concentration, high anti-double-stranded DNA, low C4 complement, and presence of anti-Smith antibodies.

Multisystem Inflammatory Syndrome in Children (MIS-C) With Hematological Manifestations: A Case Report.

Multisystem 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. Here, we report a case of a 12-year-old girl, previously medically free, who presented to the emergency room complaining of shortness of breath and dizziness for two days. The patient was confirmed to have a COVID-19 infection in the workup. Laboratory studies showed elevated inflammatory markers, leukopenia, and elevated liver enzymes. Upon admission, the patient developed a persistent fever with a spike of 40ºC, not resolved with antibiotics or anti-inflammatory drugs. This was managed with intravenous immunoglobulin (IVIG) followed by steroids but did not show dramatic change initially. The patient eventually improved with management and was discharged.

Rhabdomyolysis Induced by Rhinovirus: A Case Report.

The 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. Initial investigations showed an increase in creatine kinase (CK), C-reactive protein (CRP), and liver enzymes. Additionally, urine analysis was obtained with positive traces of blood, protein, and white blood cell. X-ray was ordered with no significant finding. Finally, the diagnosis was reached in accordance to the results of the respiratory panel multiplex (PCR) as the third case of rhinovirus-induced rhabdomyolysis. He was treated with isotonic intravenous fluids, and he was discharged on hospital day 20 with a CK of 2062 IU/L. The patient was discharged fully recovered, was able to stand and walk alone, and with no complications. In this third to be reported case of rhinovirus-induced rhabdomyolysis, we aim to increase the knowledge among the general pediatric field regarding the possible presentation and treatment of any similar case.

Natural Killer Cell Deficiency in Neuroblastoma Amplified Sequence Gene Mutation.

Natural 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.2819A>C (p. His940Pro), which causes infantile liver failure syndrome type 2 (ILFS2). The patient had been treated at four years of age for a three-day history of vesicular skin rashes in the L2 dermatome of the left leg, with pain and without swelling or redness, ear discharge, low appetite, and decreased activity. Also, she had already had multiple admissions due to different types of infections like viral hepatitis, urinary tract infection, Salmonella bacteremia, gastroenteritis, recurrent hepatitis, follicular tonsilitis, pneumonia, mastoiditis, and varicella-zoster infection. Flow cytometry revealed low levels of CD56+ and CD16+ (2%). Recently, she has shown improvement by gaining weight and appetite following interferon-beta 1a injection.

A Case of Mild Trichohepatoenteric Syndrome With New Variant Mutation in SKIV2L Gene: Case Report.

Trichohepatoenteric 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 SKIV2L or TTC37 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. The diagnosis was made through whole-exome sequencing analysis. The analysis detected a new variant mutation (c.1201G > A) p. (Glu401Lys) in the SKIV2L gene. She was admitted once for poor weight gain and nasogastric tube (NGT) feeding, with which the patient showed improvement. She was discharged to go home on hypoallergenic baby formulas and a regular diet with improved weight gain.

A Six-Year-Old Child With Mosaic Trisomy 13.

Trisomy 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. Patau syndrome has a limited survival rate, and most of the carriers die before completing the first year of life. Unlike Patau syndrome, mosaic trisomy 13 is known for longer survival. It is associated with central nervous system malformations, cardiac defects, and psychomotor delay. We report a six-year-old male patient, the third child of a first-degree consanguinity. Born at term via emergency cesarean section due to meconium-stained amniotic fluid and fetal distress. Apgar score nine at one minute and nine at five minutes. Initial examination showed typical dysmorphic features like deep-seated eyes, small palpebral fissure, low set of ears, high arched palate, short neck, and right-hand polydactyly. The diagnosis was made through chromosomal analysis, and it revealed mosaic trisomy 13.