Case Reports in Pediatrics最新文献

Pearson syndrome (PS) is a rare and fatal multisystem disorder caused by a mitochondrial DNA (mtDNA) deletion. Most patients develop refractory anemia in early infancy, rapidly followed by multiple complications such as failure to thrive, muscle hypotonia, pancreatic insufficiency, and renal tubulopathy. Although the definitive diagnosis is established by mtDNA sequencing, bone marrow (BM) cytology is a cornerstone of diagnosis, typically revealing precursor vacuolization and ring sideroblasts. We report here three cases of patients with PS encountered in our institution and summarize the clinical and hematological features of PS through a systematic review of the literature. The first symptoms mostly appear during the first month of life and rarely after 18 months. Hyporegenerative anemia, a hallmark of the disease, is the most common initial symptom, followed at a distance by neutropenia and thrombocytopenia. Gastrointestinal and metabolic symptoms such as failure to thrive and lactic acidosis are the most frequent non-hematological symptoms, even in the rare cases without hyporegenerative anemia. Vacuolization of BM precursors, observed in the vast majority of PS patient BMAs, is not influenced by the patient's age at sampling. Ring sideroblasts, the other feature of PS BMAs, are less frequent than progenitor vacuolization but increase significantly after 6 months of age. These abnormalities are just as common in patients with or without hematological symptoms, suggesting that BMA should be performed in all suspected PS cases, despite the absence of anemia. PS is a multisystem disorder requiring early diagnosis and a coordinate multidisciplinary management, involving clinicians and clinical biologists.

Cardiac tamponade is a challenging clinical situation in preterm newborns. We report the first case of an iatrogenic cardiac tamponade secondary to direct myocardial disruption with pericardial penetration following unsuccessful attempts to drain a right tension pneumothorax in a 34-week premature female newborn. The pathophysiologic mechanisms involved are discussed.

Fungal infections in the urine are rare in healthy individuals but can occur in patients with diabetes, immunosuppression, urinary catheterization, prolonged hospital stays, and the use of broad-spectrum antibiotics. The most common strain is Candida, with Candida albicans being the most prevalent. Candida auris is a new emerged and severe, contagious species of Candida family especially in critically ill patients. We present a case of a 17-year-old male with neuromyelitis optica spectrum disorder who developed a fungus ball in the bladder. Despite multiple antibiotic therapies, persistent fevers led to the diagnosis of Candida auris and the detection of a fungus ball in the bladder. The patient was successfully treated with caspofungin, cystoscopy for total excision of the fungus ball, and intravesical liposomal amphotericin B. This case underscores the importance of early diagnosis and treatment of fungus balls to prevent complications such as obstructive complications and fungal urosepsis. In conclusion, identifying risk factors, such as immune dysregulation, prolonged PICU stay, mechanical ventilation, urinary catheter, and antibiotic use, is crucial in managing such cases.

Necrotizing enterocolitis (NEC) is a serious condition characterized by severe ischemic inflammation of the bowel with invasion of gas-forming organisms into the bowel wall. Intraventricular hemorrhage (IVH) is another serious condition characterized by bleeding into the ventricles from the friable germinal matrix in premature infants. Both typically occur in the preterm and low-birth weight neonates. In this report, we present a 36+-week gestation and normal weight newborn with no risk factors developed both NEC and high-grade IVH. Upon investigation, he was found to have a positive thrombophilia profile.

A male neonate was born at 40 weeks and 3 days gestation with bilateral, stellate shaped truncal lesions, consistent with type V aplasia cutis congenita (ACC). The infant was the survivor of a dichorionic diamniotic twin pregnancy, with fetal demise documented at 13 weeks gestation. Here we present a unique case of ACC associated with fetal papyraceus, along with a review of the current literature on this heterogeneous group of disorders.

Sturge-Weber Syndrome (SWS), also called encephalotrigeminal angiomatosis, is a rare congenital neurological condition classified by the hallmark findings of a port-wine birthmark, leptomeningeal angiomas, and glaucoma. Here, we present a case of a two-year-old patient with a history of a left-sided port-wine birthmark involving the V1-V2 dermatomes who re-presented to the emergency department with focal right-sided seizure-like activity in the setting of a recent head trauma. The patient was admitted for further workup, where video electroencephalography demonstrated the presence of electrographic seizures developing from the left posterior quadrant, with continuous focal slowing over the left hemisphere, and with magnetic resonance venography revealing findings concerning for a pial angiomatosis. This finding, coupled to new-onset seizure-like activity in a patient with a port-wine birthmark, supported a diagnosis of SWS. He was started on an antiepileptic drug regimen with resolution of seizure-like activity while inpatient and his subsequent care was transferred to a specialized clinic designed to manage patients with SWS. Most patients diagnosed with SWS exhibit seizure-like activity, often presenting as infantile spasms, within the first year of life; our patient, on the other hand, began to exhibit focal seizures following a traumatic event and was later found to harbor findings consistent with SWS. Overall, this case highlights the role of a multidisciplinary team in the management of patients with SWS and demonstrates the importance of routine follow-up testing, imaging, and subspecialty care for these patients.

Anorectal malformation (ARM) refers to a group of congenital anomalies that affect the anus, rectum, and sometimes the urinary and reproductive tracts. A full-term male newborn was diagnosed with ARM and rectoperineal (scrotal) fistula during a first clinical screening examination at birth. He also had urethral duplication on the micturating cystourethrogram (MCUG) scan performed on Day 2 of life. The child underwent transverse colostomy at 24 h of life and corrective surgery (posterior sagittal anorectoplasty and urethroplasty) at 6 months of life, followed by colostomy closure after 3 months. This case highlights the importance of the first newborn clinical screening examination to rule out major congenital malformation and the thorough evaluation for associated urogenital defects in the case of ARM before definitive corrective surgeries for better clinical outcomes.

Background: Prucalopride is a highly selective, 5-HT4 receptor agonist that can be used for the treatment of chronic constipation in individuals for whom laxatives fail to provide adequate relief. The current case study describes adverse neuropsychiatric symptoms following the administration of prucalopride in a 15-year-old female with a complex physical and mental health history to manage chronic constipation. Case Summary: A single 2 mg dose of prucalopride was prescribed to a 15-year-old female to manage her chronic constipation due to a diagnosis of autoimmune enteric neuropathy. Following the oral administration of prucalopride, the patient started experiencing visual and auditory hallucinations, along with suicidal ideation. Prucalopride was ceased, with the patient receiving psychopharmacology and psychological intervention to address the acute onset psychiatric symptoms. Practical Implications: To our knowledge, this is the second documented case of acute onset neuropsychiatric symptoms following the administration of prucalopride. Clinicians should be aware of this possible side effect, particularly if considering administering prucalopride in patients with neurodevelopmental and psychiatric comorbid histories. Increased supervision and monitoring is recommended in these patients if prucalopride is administrated.

Posterior reversible encephalopathy syndrome (PRES) is a condition that manifests with symptoms like altered mental status, seizures, vision impairment, and vasogenic edema primarily affecting the occipital and parietal lobes, with occasional involvement of the frontoparietal regions. We report a case of a 10 year old girl who arrived at the pediatric emergency department with generalized swelling, dark-colored urine, and two days of seizures following recent throat infection. Her blood pressure consistently exceeded the 95th percentile by +12 mm Hg, indicating stage 2 hypertension. A computed tomography (CT) scan showed hypodensities (edema) in the parieto-occipital white matter, consistent with PRES. Due to limited resources, magnetic resonance imaging (MRI) could not be performed. The patient was treated symptomatically with levetiracetam for seizures and furosemide and amlodipine for hypertension. By the fifth day of hospitalization, the patient experienced significant improvement, with a return to normal appetite, urine color, and neurological function. Early diagnosis contributed to her full recovery. Physicians in resource limited settings should have high degree of suspicion of pediatric PRES and perform detailed history taking, examination, laboratory investigations and imaging (whenever available) for management of pediatric PRES.

This report presents a case of acquired tracheal stenosis in a pediatric patient without a history of prolonged intubation. A 14-year-old female presented with a chief complaint of biphasic stridor and a medical history remarkable for bulimia nervosa and one year of self-induced vomiting. Endoscopic evaluation revealed Grade three tracheal stenosis. Lab work was unrevealing for acute inflammatory process nor vasculitis. Pathology was unremarkable. The patient tolerated primary dilation and second look did not reveal further stenosis. Her extensive workup failed to reveal an alternative etiology with a working hypothesis that the stenosis was a result of chronic retching due to bulimia.