Case Reports in Pediatrics

BACKGROUND: The current literature suggests that neonatal severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections generally have a mild course. Data on how in utero exposure to maternal infection affects neonatal health outcomes are limited, but there is evidence that neurological damage to the fetus and thromboembolic events may occur. Case Presentation . We describe the case of a late preterm infant, who presented with striatal lacunar infarction in the neonatal period, born to a mother with active peripartum SARS-CoV-2 infection...

BACKGROUND: Ring chromosome 17 syndrome is a rare hereditary disorder whose prevalence is less than 1 : 1.000.000. We present a ten-year-old patient with ring chromosome 17 syndrome who had short stature and was treated with recombinant human growth hormone (rhGH). Case Report . A ten-year-old male scholar had moderate left conductive deafness, left kidney hypoplasia with hypertension, epilepsy, malformations in hands, feet, and abdomen, and disproportionately short stature...

A 3-month-old male infant was bought to the emergency department with almost 3 weeks of projectile, bilious emesis after each feed. On presentation, he was cachectic and severely dehydrated and had a palpable olive in the epigastric region. Hypertrophic pyloric stenosis was excluded by abdominal ultrasound. The barium meal demonstrated a massively distended stomach, absence of distal gas, and triple bubble sign. Given the radiological findings, the patient underwent an emergency exploratory laparotomy and a congenital duodenal web (CDW) was discovered...

Inguinal hernia is the most common surgical disease in pediatric patients, and urgent intervention such as manual reduction is needed for incarcerated inguinal hernia. Torsion of undescended testes, inguinal herniated ovarian torsion, and purulent lymphadenitis are mimickers of this condition. If these mimicker lesions are misdiagnosed as incarcerated inguinal hernia, manual reduction usually fails, and edematous and erythematous changes may occur in these mimicker lesions due to manual reduction. For physicians in the emergency department, prompt decisions and familiarity with the sonographic appearance of different contents within an inguinal hernia are important to accurately diagnose these mimickers...

Background . Organophosphates are chemicals that lead to the accumulation of acetylcholine, causing muscarinic symptoms such as salivation and nicotinic manifestations like muscle weakness and hypertension and rarely leading to basal ganglia impairment, manifesting as extrapyramidal symptoms. Literature reported that the use of amantadine, an amine that has both antiviral and dopaminergic activities, improves extrapyramidal manifestations. Most of the studies exploring the effect of amantadine were conducted on adults and there are extremely limited data in regards to this topic in Saudi Arabia...

Few reports of laser coagulation for foetal bronchopulmonary sequestration (BPS), a rare congenital malformation characterised by the absence of tracheobronchial connection and the presence of a systemic feeding artery, have been published. Additionally, very few of them focus also on the postnatal management, with results limited and controversial. Postnatal treatment of residual malformation remains debated, hence the need to share our experience of a combined pre- and postnatal approach to complicated extra-lobar BPS...

BACKGROUND: Linear scleroderma is one of the five forms of scleroderma, but it is the most common form of localized scleroderma in childhood. If left untreated, it can lead to severe disfigurement and functional impairment. The typical appearance is a linear streak with cutaneous induration on the face or head in association with various ophthalmological and neurological signs and symptoms. Treatment typically includes corticosteroids and/or methotrexate with life-long monitoring for recurrence...

Primary hyperparathyroidism is rare in the pediatric population and is typically caused by a single parathyroid adenoma. Parathyroid adenomas are almost always small and not palpable on exam but can be evaluated by neck ultrasonography or 99 m Tc-sestamibi scan. Surgical resection is the only curative treatment. In this case, a 16-year-old male presents with a 10-day history of nausea, vomiting, and headaches and is found to have a highly elevated calcium and parathyroid hormone level and a cerebral calcification in his frontal lobe noted on computed tomography...

BACKGROUND: In this study, we report the case of a 14-month-old female patient transferred from another hospital to our hospital with a 9-day history of fever and worsening dyspnea. Case Report . The patient tested positive for influenza type B virus 7 days before being transferred to our hospital but was never treated. The physical examination performed at presentation revealed redness and swelling of the skin at the site of the peripheral venous catheter insertion performed at the previous hospital...

INTRODUCTION: The primary cause of death in Morquio A syndrome (mucopolysaccharidosis (MPS) IVA) is airway obstruction, brought about by an inexorable and pathognomonic multilevel airway tortuosity, buckling, and obstruction. The relative pathophysiological contributions of an inherent cartilage processing defect versus a mismatch in longitudinal growth between the trachea and the thoracic cage are currently a subject of debate. Enzyme replacement therapy (ERT) and multidisciplinary management continue to improve life expectancy for Morquio A patients by slowing many of the multisystem pathological consequences of the disease but are not as effective at reversing established pathology...

BACKGROUND: Kawasaki disease is an acute febrile generalized vasculitic syndrome of childhood of unknown ethology. The most severe complication may involve the hearth and include acute myocarditis with hearth failure, arrythmia, and coronary artery aneurism. The typical clinical symptoms are fever, conjunctivitis, rash, cervical lymphadenopathy, and mucocutaneous changes, and the diagnosis is made by the clinical criteria. Early use of aspirin and immunoglobuline improves symptoms and prevent heart complications...

BACKGROUND: Meckel's diverticulum, the most common congenital anomaly of the gastrointestinal tract, typically presents in children with gastrointestinal bleeding. Case Presentation . An 11-year-old Caucasian male presented with a 6 week history of abdominal pain, vomiting, and diarrhea. He was found to have iron deficiency anemia, markedly elevated serum and fecal inflammatory markers, and imaging showing a contained bowel perforation. He was evaluated for infectious etiologies and later underwent extensive testing for inflammatory bowel disease...

BACKGROUND: Granulomatosis with polyangiitis (GPA) with early manifestations simulating IgA vasculitis is a very rare childhood systemic disease. Case Presentation . A 10-year-old boy presented initially with cutaneous, skeletal, and abdominal signs suggestive of IgA vasculitis. Over time, the worsening of skin ulcers, orchitis, and renal involvement led to the diagnosis of GPA according to cytoplasmic positive antineutrophil cytoplasmic antibodies and renal biopsy. CONCLUSION: Clinicians should be awared of the diagnostic pitfalls when making a clinical diagnosis of IgA vasculitis in children older than 7 years...

Intussusception is the invagination of a proximal bowel segment into a distal segment causing bowel obstruction, especially in children. In some cases, it can be caused by a pathological lead point, such as Burkitt lymphoma. Burkitt lymphoma has several patterns of clinical presentations, such as jaw or facial bone tumor in the endemic form, in contrast to an abdominal presentation most often with massive disease and ascites. We describe a case of a 4-year-old male who presented bowel obstruction. Using X-ray and ultrasound findings, ileocecal intussusception was then diagnosed...

BACKGROUND: Splenic abscesses are rare and potentially fatal. Diagnosis is often delayed due to vague symptoms, and laboratory findings are varying and often nonspecific. Ultrasound and computed tomography have a high sensitivity in detecting splenic abscesses. Splenectomy was previously considered the gold standard for treatment, but in recent years, a shift has been seen towards a more conservative approach, i.e., ultrasound-guided aspiration or drainage in combination with adequate antibiotics in selected cases...

Microdeletion of the short arm of chromosome 18 is one of the most common chromosome deletion syndromes. Its estimated frequency is 1 in 50,000 live-born infants, with female prevalence over males. Around 150 cases have been described till now. The reported abnormalities include growth deficiency, hypotonia, microcephaly, dysmorphic facial features such as ptosis, epicanthal folds, hypertelorism and micrognathia, and relatively small hands and feet. Our patient was a full-term low birth weight (2150 gm) female newborn, showing cleft upper lip and palate (hard and soft palate), bilateral congenital Talipes Equinovarus with rocker bottom foot, microcephaly, atrial septal defect...

Pulmonary agenesis is a rare congenital anomaly of unknown cause, consisting of a complete absence of the lung parenchyma, bronchi, and vascularization. It may or not be associated with other malformations. The authors report a case of right pulmonary agenesis diagnosed in a four-month-old infant who had no previous pathological history and was growing well. The circumstance of discovery was respiratory distress during an infectious episode. The diagnosis was suspected on a standard chest X-ray and confirmed on a chest CT scan...

Foreign body ingestion is one of the common problems among children. A three-year-old girl presented to the emergency department 2 h after ingesting three small disk-type neodymium magnets. She had no gastrointestinal symptoms. Abdominal radiography revealed a foreign body in the left upper quadrant, which was the three circular magnets. Fluoroscopy was performed. She was placed in the right lateral decubitus position for 3 min and slowly returned to the supine position. Abdominal fluoroscopy revealed a foreign body migrating near the middle of the spine...

BACKGROUND: Lysosomal acid alpha-glucosidase (GAA) deficiency, also known as Pompe disease, is an autosomal recessive disorder that leads to the accumulation of glycogen in lysosomes and cytoplasm, resulting in tissue destruction. Infantile-onset GAA deficiency is characterized by cardiomyopathy and severe generalized hypotonia. Without treatment, most patients die within the first two years of life. The demonstration of reduced GAA activity, followed by sequencing of the GAA gene, confirms the disease...

Potter syndrome, first reported in 1946 by Edith Potter, refers to fatal cases of bilateral renal aplasia with pulmonary hypoplasia, peculiar facial features, and limb deformities. Presently, patients with oligohydramnios showing similar pathological manifestations due to oligohydramnios caused by conditions other than bilateral renal aplasia have been reported, and are known as the Potter sequence. There are limited studies and unclear guidelines on the safest delivery time and detailed postpartum management for patients with the Potter sequence...