Ileocecal Intussusception in the Era of Coronavirus Disease 2019 (COVID-19) Infection and Multisystem Inflammatory Syndrome in Children (MIS-C): A Case Report and Literature Review.

Ileocecal intussusception (ICI) is the most common abdominal emergency and cause of intestinal obstruction in young children, carrying a high risk of mortality and morbidity. Enteric viral infectious and inflammatory syndromes are known triggers for intussusception (ileoileal and ileocolic) by causing mesenteric lymphoid hyperplasia that may act as a leading point allowing the bowel to invaginate into itself. Gastrointestinal (GI) symptoms are common in children with coronavirus disease 2019 (COVID-19) infection, with a subset of patients solely having GI complaints at the time of presentation.  COVID-19 as a trigger for intussusception in children has been hypothesized and suggested in multiple cases reported to date, both during the acute phase of illness and as a part of multisystem inflammatory syndrome in children (MIS-C). We present a seven-month-old male who developed ICI and became a diagnostic dilemma due to viral co-infections and the gradual emergence of MIS-C during the hospital stay. We are describing this presentation in an attempt to expand the understanding of the implications of COVID-19 and MIS-C in this young and unique age group.

Hemorrhagic Disease of the Newborn as a Consequence of Vitamin K Refusal Due to Language Barrier.

Newborns are prone to hemorrhagic disease due to vitamin K deficiency for multiple reasons, including vitamin K absence in breast milk and formula preparation, sterile gut with limited absorption, and lack of placental transfer. Despite the importance of vitamin K administration at birth in preventing hemorrhagic disease in infants, some parents still refuse administration to their newborns. One of the unexpected but preventable reasons is the language barrier related to special dialects, resulting in misunderstanding the benefits of vitamin K administration and complications related to vitamin K deficiency. We present a case of hemorrhagic disease of the newborn due to vitamin K deficiency following the parental refusal of postnatal prophylactic vitamin K due to a language barrier that resulted in miscommunication. Although appropriate education was provided to the family via Spanish interpreter as requested, it was later revealed that the family was speaking a special dialect, and they did not fully understand the importance of vitamin K prophylaxis. The patient experienced intracranial hemorrhage with full recovery after treatment and surgical intervention. Upon reviewing the case, the parents were speaking a rare dialect of Spanish, that was not known to the Spanish medical interpreters. A combination of a Spanish medical translator and a family friend was necessary for effective communication with the family.

Correction: A Rare Case of Pontocerebellar Hypoplasia Type 1B With Literature Review.

[This corrects the article DOI: 10.7759/cureus.27098.].

Vein of Galen Aneurysmal Malformation: A Case Report and Literature Review.

The vein of Galen aneurysmal malformation (VGAM) is a rare congenital vascular malformation caused by the maldevelopment of its embryonic precursor, the median pros encephalic vein of Markowski. Although most of the VGAM cases are diagnosed in the neonatal period, sometimes it can also present during early childhood. It is very crucial to intervene immediately following the diagnosis because if left untreated, morbidity and mortality are imminent. The most common causes of morbidity and mortality are high-output congestive heart failure (most common neonatal presentation), hydrocephalus (most common presentation in infants), headache, and seizures.  We are presenting the case of a two-year-old male with global developmental delay, failure to thrive, and macrocephaly who presented with recurrent generalized tonic-clonic seizures. MRI/magnetic resonance venography (MRV)/magnetic resonance angiography (MRA) brain showed an enlarged vein of Galen with venous hypertension and aqueduct stenosis.  Treatment intervention included trans-arterial embolization of the right pericallosal, right/left lateral posterior, and medial posterior choroidal feeders with coils. The patient has had significant improvement in his neurocognitive functions including significant improvement in his speech/language development with outpatient therapies in between embolization.

Herpes Simplex Virus Type 1 (HSV-1) Meningoencephalitis in an Immunocompetent Young Adolescent Female.

The case that we report occurred in a previously healthy, fully immunized 13-year-old female presenting with severe unilateral headaches and generalized tonic-clonic seizures and subsequently diagnosed with herpes simplex virus type 1 (HSV-1) meningoencephalitis. The patient was successfully treated with acyclovir and seizures were controlled with valproic acid. The HSV meningoencephalitis has high morbidity and mortality. Our case highlights one of the severe presentations of HSV meningoencephalitis in young adolescents that can manifest with headaches, fever, seizures, focal neurologic signs, and altered mental status. We also highlight the need for a thorough workup among pediatric providers in the emergency and inpatient departments to avoid delays in diagnosis that can lead to poor outcomes.

A Rare Case of Pontocerebellar Hypoplasia Type 1B With Literature Review.

A full-term female newborn was transferred to our neonatal intensive care unit (NICU) on day two of life for hypotonia. Physical examination was significant for overriding sutures, displaced small anterior fontanelle, axial hypotonia, extremity hypertonia, and slow deep tendon reflexes. She was also noted to have stridor with crying but had unlabored breathing without oxygen requirements and a normal heart examination. A brain magnetic resonance imaging (MRI) showed a large cisterna magna and cerebellar hypoplasia with the majority of the cerebellar vermis present, suggesting a possible Dandy-Walker variant (cerebellar vermis hypoplasia). Head computed tomography showed areas of close approximation of coronal sutures and no synostosis. During the NICU stay, our patient was evaluated by Pediatric Neurology who recommended a chromosomal microarray which returned normal. The patient also had some difficulty feeding initially, but she was able to feed efficiently and gain weight by the time of discharge. After discharge from NICU, her neurological status steadily declined, resulting in poor motor function and poor suck despite regular physical therapy, occupational therapy, and speech therapy. By three months of age, she developed failure to thrive and was admitted to the hospital for evaluation of the cause. Her neurological examination showed worsening of her axial hypotonia with very little movement in the upper extremities and hypertonia in the lower extremities. She had a weak suck with the inability to form a good seal on the nipple. A new heart murmur was noted and an echocardiogram showed a moderate-to-large atrial septal defect. A modified barium swallow study showed severe dysphagia for which she required gastrostomy tube placement for feeding. At follow-up with Neurology, she was noted to have progressive microcephaly, profound hypotonia, areflexia, and nystagmus. A second MRI showed worsening atrophy and increasing ventriculomegaly. By nine months of age, she developed respiratory failure, required a tracheostomy, and remained ventilator-dependent. Genetics was then consulted and recommended a brain malformation genetic panel. The patient was found to be heterozygous for two pathogenic variants in the EXOSC3 gene: c.155delC and D132A, which is consistent with a diagnosis of autosomal recessive pontocerebellar hypoplasia (PCH) type 1B. The mother was found to be a heterozygous carrier of the c.155delC pathogenic variant, while the father was a heterozygous carrier for the D132A variant, which confirms that the two variants are present on opposite alleles. PCH describes a rare group of 11 neurodegenerative disorders that are typically seen prenatally or shortly after birth. PCH1 is characterized as a combination of PCH and spinal muscular atrophy, with patients presenting with muscle weakness and global developmental delay. An increased understanding of PCH1 will lead to better care and counseling for patients and families.

Abnormal Weight Loss in an Adolescent Female With Down Syndrome.

Down syndrome is the most common chromosomal abnormality identified at birth. These individuals will have multiple comorbid illnesses that require complex medical care throughout their lives. In recent years, specific patterns of regression have been detected in these individuals; most notably, developmental regression with language, behavior, and cognitive skills that they had previously acquired, which now affects both the quality of life and autonomy. These development regression patterns are referred to as Down syndrome disintegrative disorder. The case that we are reporting occurred in a 17-year-old female presenting with significant weight loss, altered mental status, and loss of functional skills over a period of one month. Co-occurring hypothyroidism and hyperthyroidism symptoms exacerbation may have triggered this patient's regression. Our case highlights the importance of conducting a thorough investigation for life-threatening and non-life-threatening illnesses that can present with similar symptoms, in order to make the correct diagnosis of Down syndrome disintegrative disorder and find appropriate therapies and future care.

Recurrent Pott Puffy Tumor in a Child With Frontonasal Dermoid: An Unusual Presentation.

We present a case of Pott puffy tumor in a 21-month-old male, the youngest patient ever reported to have developed this complication and the first ever to have developed recurrence from an infected frontonasal dermoid. Hence, by reporting this case, we want to raise awareness about the importance of early recognition of Pott puffy tumor; and the need to meticulously evaluate and resect any craniofacial dermoid that could potentially lead to recurrence and intracranial complications if left unrecognized.

Klebsiella Discitis in a 15-Year-Old Male Diagnosed With Plasma Microbial Cell-Free DNA Next-Generation Sequencing Test: A Case Report.

Spinal discitis (SD) is a rare condition, particularly in the pediatric population. The course of SD may be acute or chronic, and the non-specificity of symptoms leads to great delays in diagnosis. The most commonly isolated causative organism is Staphylococcus aureus whereas gram-negative infections are hardly ever reported in the literature. Comorbidities that increase the risk of bacteremia such as diabetes, chronic kidney disease, HIV, and cancer are major risk factors for SD. Hereby, we present an atypical case of SD in a previously healthy 15-year-old male with an unusual organism, Klebsiella aerogenes, diagnosed by plasma microbial cell-free DNA with negative blood cultures. The clinical course was complicated by antibiotic resistance and subsequent development of a ventral epidural abscess requiring readmission followed by surgical drainage of the abscess with a prolonged course of antibiotics.

Intractable Vomiting in an 11-Month-Old Boy With Trisomy 21: A Case Report on Abnormal Calcium/Calcinosis/Creatinine in Down Syndrome.

Abnormal calcium/calcinosis/creatinine in Down syndrome (ABCD syndrome) is a very rare condition with no clear etiology. In this paper, we describe our clinical encounter with this disease. We report the case of an 11-month-old male infant with Down syndrome (DS) who presented to the hospital with intractable vomiting and decreased oral intake and urine output. The evaluation revealed an acute kidney injury (AKI) and hypercalcemia. Although his AKI improved with intravenous hydration, his hypercalcemia persisted. Extensive studies were notable for an elevated urinary excretion of calcium and bilateral medullary nephrocalcinosis seen on renal ultrasound (US). As a result, he was diagnosed with ABCD syndrome. Dietary calcium restriction was implemented. During his follow-up visit with a pediatric endocrinologist, his serum calcium was found to be normalized. To our knowledge, this is only the seventh case report on ABCD syndrome in the literature.

A Rare Cause of Abdominal and Flank Pain in Children: Nutcracker Syndrome.

The nutcracker phenomenon is characterized by compression of the left renal vein typically between the abdominal aorta and superior mesenteric artery. It is an uncommon and often undiagnosed condition that has the potential to cause a range of symptoms including hematuria and abdominal or flank pain. The term nutcracker syndrome refers to the clinical manifestations of the nutcracker phenomenon. Diagnosis can be made with Doppler ultrasound, computed tomography angiography, magnetic resonance angiography, or venography. Management can range from conservative treatment in the pediatric population due to high spontaneous remission rate to surgical and endovascular interventions. We discuss the case of a previously healthy young female who presented with abdominal pain. Diagnosis of nutcracker syndrome was made based on imaging. The patient was managed conservatively. This case highlights the importance of considering nutcracker syndrome in the differential diagnosis when evaluating patients with abdominal and flank pain.