Case Reports in Pediatrics最新文献

We describe the case of an eight-year-old female presenting with abrupt-onset involuntary movements, emotional lability, and gait disturbances, consistent with Sydenham's chorea (SC). Her condition deteriorated despite initial antibiotic treatment and symptomatic management. Notable findings included elevated antistreptolysin O titers and antideoxyribonuclease B antibodies, suggestive of recent Group A Streptococcus infection. Brain magnetic resonance imaging revealed punctate gliosis in the supratentorial white matter, and extensive workup excluded alternative diagnoses. Despite escalating therapy with valproic acid, clonidine, and haloperidol, the patient exhibited persistent choreiform movements and emotional dysregulation. High-dose corticosteroids (methylprednisolone) were initiated, resulting in significant symptomatic improvement and restoration of ambulatory function. Long-term prophylaxis with benzathine penicillin G was implemented to prevent recurrence. SC remains an under-researched complication of acute rheumatic fever, with treatment often extrapolated from limited case reports and expert consensus. This case underscores the potential role of corticosteroids in refractory SC. This case also highlights the complexity of managing prolonged SC and the importance of individualized, multifaceted treatment strategies.

We present the case of a 6-year-old Palestinian girl who suffered from recurrent attacks of arthralgia, abdominal pain, fever, and mesenteric lymphadenopathy over the past 3 years. Despite the presence of all clinical diagnostic criteria for Familial Mediterranean Fever (FMF) and a heterozygous mutation (p.V726A) in the Mediterranean Fever (MEFV) gene, the atypical presentation of these symptoms prompted a comprehensive genetic examination. This revealed COPA syndrome as an additional diagnosis, a rare autosomal dominant disorder of immune dysregulation that affects the lungs, joints, and occasionally the kidneys. Following colchicine therapy, patient's symptoms and lymphadenopathy decreased, indicating a significant recovery. We emphasize the importance of a comprehensive genetic examination in children with complex symptoms and doubt about the diagnosis to enable early detection of rare disorders and prompt initiation of treatment.

We encountered a case of congenital diaphragmatic hernia (CDH) and congenital nephrotic syndrome (CNS) in a low-birth-weight infant weighing < 2 kg. Dialysis was required due to progressive acute kidney injury in the early postnatal period, and a peritoneal dialysis (PD) catheter was placed during CDH repair surgery. During the postoperative acute phase, continuous hemodialysis (CHD) was performed to minimize stress on the surgical site; however, owing to PD-related peritonitis and sutural insufficiency of the diaphragm, the transition to PD was not feasible, necessitating prolonged CHD. During the course of the illness, the patient developed vascular occlusion in the vessels suitable for blood access and superior vena cava syndrome, ultimately rendering continued CHD and PD impossible, leading to death at 74 days of age. Respiratory and circulatory management are required during the perioperative period of CDH repair, necessitating multiple supportive therapies and careful nutritional management. This leads to a complex vicious cycle of complications, including protein loss due to CNS, coagulation disorders, circulatory failure, delayed wound healing because of malnutrition, increased susceptibility to infection, thrombosis, and infections associated with CHD and PD. Optimization of supportive therapies, including systemic anticoagulation management, infection control, and early establishment of nutrition, is considered crucial for the safe implementation of CHD or PD in such diseases.

Neonatal lupus erythematosus (NLE) is a rare autoimmune disease in newborns and infants, caused by the transplacental transmission of anti-Sjögren's syndrome-related antigen A (anti-SSA), anti-Sjögren's syndrome-related antigen B (anti-SSB), and anti-ribonucleoprotein (anti-RNP) maternal antibodies to fetal tissues during pregnancy, with manifestations in the skin, heart, liver, and hematologic systems. While cardiac abnormalities in NLE, primarily congenital heart block, may be detected prenatally through fetal echocardiography, noncardiac manifestations become evident after birth and can be easily missed due to their nonspecific nature. In this report, we describe six cases of NLE without cardiac involvement, diagnosed and managed by our team across three hospitals in Hanoi, Vietnam, between 2018 and 2023, with patient ages at diagnosis ranging from 40 days to 7 months. Clinical and laboratory findings include skin rash (6/6), anemia (5/6), thrombocytopenia (3/6), neutropenia (3/6), elevated liver enzymes (2/6), hypocomplementemia (4/5), and positivity for anti-SSA (5/6), anti-SSB (4/6), and anti-RNP (2/6) antibodies. Treatment approaches consisted of intravenous immunoglobulin (IVIG) in three cases, oral corticosteroids in one case, topical corticosteroids in one case, and supportive care without specific treatment in one case. All patients demonstrated full clinical recovery without any residual sequelae.

Background: Intracranial germ cell tumors (GCTs) are rare in the pediatric population. They are classified as germinoma and nongerminomatous and may secrete specific proteins such as β subunit of human chorionic gonadotropin (β-hCG) and alpha-fetoprotein (AFP). When secreting β-hCG, they may induce gonadotropin-independent puberty (GIP), a clinical diagnostic clue that can precede neuroimaging findings.

Case: A 13-year-old boy presented with a first generalized tonic-clonic seizure after six months of headaches, vomiting, polyuria, and polydipsia. Examination showed pubertal penile length with peripubertal testes. Laboratory assessment revealed panhypopituitarism with suppressed gonadotropins and elevated testosterone. Brain magnetic resonance imaging (MRI) demonstrated bifocal lesions (pineal and suprasellar) with obstructive hydrocephalus. Cerebrospinal fluid (CSF) sample obtained via temporary external ventricular drain (EVD) showed a normal cytology, confirming a β-hCG-secreting germinoma. The patient achieved remission after chemotherapy, neurosurgical resection, and cranial radiotherapy. He developed a posterior medulla relapse successfully salvaged with gemcitabine-paclitaxel-oxaliplatin, high-dose etoposide-thiotepa with autologous stem-cell transplantation, and craniospinal irradiation.

Conclusion: Discordant clinical and biochemical puberty (penile enlargement with small testes and high testosterone with suppressed gonadotropins) should prompt β-hCG testing and targeted neuroimaging for suspected central nervous system GCTs. When raised intracranial pressure precludes lumbar puncture, CSF sampling via EVD is a safe alternative. Coordinated oncologic-endocrine care supports durable disease control with tailored long-term hormonal follow-up.

This article presents a rare case of a five-year-old pediatric patient who refused all oral intake, including swallowing saliva, for 1 week following general anesthesia for dental surgery. The patient was hospitalized for further investigation and nutritional support. After an 8-day stay, the patient was discharged at their baseline condition, having gradually started eating with continuous encouragement. No underlying medical causes were identified. The patient had a history of anxiety before the surgery, and this case highlights the critical role of addressing anxiety in postoperative care, as well as the possibility of this behavior being a rare manifestation of avoidant/restrictive food intake disorder (ARFID).

Background: Inspissated bile syndrome (IBS) is a rare neonatal condition characterized by thickened bile leading to cholestasis, while Crigler-Najjar syndrome type II (CNS-II) is an autosomal recessive disorder resulting in unconjugated hyperbilirubinemia. Both conditions pose significant risks, particularly when they converge during pregnancy.

Case presentation: We report a unique case involving a 20 day-old female neonate born to a mother with CNS-II who discontinued phenobarbital treatment during pregnancy. The mother presented with elevated indirect bilirubin levels (total 32, and direct 0.4 mg/dL) and normal liver function test, while the neonate exhibited prolonged jaundice and cholestasis with direct hyperbilirubinemia (total 8, and direct 5.4 mg/dL) upon admission. Treatment included ursodeoxycholic acid for the neonate, leading to normalization of bilirubin levels. The neonate's growth and neurological development remained normal at 6 months.

Discussion: This case emphasizes the significant risks associated with untreated CNS-II during pregnancy, which likely contributed to the neonate's IBS. Existing literature highlights the importance of maternal management in preventing severe neonatal complications associated with hyperbilirubinemia.

Conclusion: This case highlights the importance of timely intervention in managing maternal metabolic disorders during pregnancy to improve neonatal health. Further research is essential to develop optimal treatment strategies for such cases.

We report a case of a male neonate delivered urgently via cesarean at 27 weeks of gestation for placenta abruption who was apneic at birth and needed endotracheal intubation. Traumatic nasal intubation with injury to the cribriform plate and tract through the right cerebral hemisphere occurred. Now at 10 years of age, he has left hemiplegic cerebral palsy, autism spectrum disorder, intellectual disability, and externalizing disruptive behavior. This case highlights a potential complication of nasal intubation in preterm infants and the importance of considering this in choosing the route of intubation in preterm infants.

Neonatal diabetes mellitus (NDM) is a rare and often misdiagnosed collection of disorders typically presenting in the first 6 months of life, characterized by insulin deficiency and hyperglycemia. This case study discusses a neonate initially suspected of having sepsis due to nonspecific symptoms such as vomiting, increased work of breathing, and grunting. Upon further investigation, the child was diagnosed with neonatal diabetic ketoacidosis (DKA) and treated accordingly. Genetic testing and subsequent management revealed that the infant was hemizygous for a FOXP3 missense variant, leading to a diagnosis of IPEX syndrome, an X-linked autoimmune disorder with a poor prognosis. This case highlights the importance of considering NDM in differential diagnoses, especially when symptoms mimic other neonatal illnesses such as sepsis, and emphasizes the need for prompt recognition and management to prevent complications. In addition, this article outlines the management strategies for IPEX syndrome, including insulin therapy, immune suppression, and the potential for hematopoietic stem cell transplantation.

Prolidase deficiency (PD) is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the PEPD gene, which is responsible for making prolidase and collagen resynthesize. It leads to a wide range of clinical symptoms, including skin ulcers, intellectual disability, and recurrent infections. Diagnostics are based on the presence of dipeptides in the urine and prolidase activity in various cells, as well as the detection of the pathogenic variant in the PEPD gene; however, no standard method is currently known for its diagnosis nor for its treatment. Case 1 presents a 17-year-old male with dyspnea, cyanosis, and pulmonary arteriovenous malformations (AVMs), an atypical presentation for PD. Case 2, a one-year-old female with fever, seizures, productive coughs, erythematous ulcers, and developmental delays, highlights the disease's broad symptoms. This study widens our understanding of PD, especially for lesser-known populations, such as the population in Iran. It indicates considering PD in the differential diagnosis of various diseases and also a global collaboration for managing PD. The study also recommends a standard approach to diagnosing PD and a personal management system due to its broad manifestations. In addition, it indicates the need to consider different ethnic and geographical groups in future PD studies to further enhance our understanding of this rare disease.