Boletín médico del Hospital Infantil de México最新文献

Background: Untreated human immunodeficiency virus (HIV)-immunosuppressed pediatric patients show high morbidity and mortality from opportunistic infections. Limited cases of hyperferritinemic sepsis have been described in patients with toxoplasmosis.

Case report: We describe the case of a 13-year-old female patient with a history of untreated HIV who presented with hyperferritinemic sepsis secondary to Toxoplasma gondii infection and Pneumocystis jirovecci pneumonia. She received ventilatory support, inotropic drugs, treatment for opportunistic germs, and high-dose corticosteroids, but with unfavorable evolution.

Conclusions: The global approach to sepsis with elevated ferritin guides to using of therapies aimed at neutralizing the severe inflammatory response. A timely diagnosis would allow prompt treatment and minimize complications.

Background: Pigmented (or melanocytic) neurofibroma (PN) constitutes only 1% of cases and is considered a rare variant of neurofibroma containing melanin-producing cells. In addition, the association of PN with hypertrichosis is infrequent.

Case report: We describe the case of an 8-year-old male with a neurofibromatosis type 1 (NF1) diagnosis, who presented a light brown hyperpigmented plaque, smooth and well-demarcated, and hypertrichosis on the left thigh. The skin biopsy showed characteristics of neurofibroma; however, in the deep portion of the lesion, melanin deposits positive for S100, Melan-A, and HMB45 were observed, thus establishing the diagnosis of pigmented neurofibroma.

Conclusions: Although PN is a rare subtype of neurofibroma, it is considered a chronically progressive benign tumor containing melanin-producing cells. These lesions can appear alone or in association with neurofibromatosis. Since this is a tumor that can be confused with other skin lesions, biopsy analysis is essential to differentiate it from other pigmented skin tumors, such as melanocytic schwannoma, dermatofibrosarcoma protuberans, neurocristic hamartoma, or neuronevus. Surveillance is part of the treatment, and surgical resection is sometimes performed.

In February 2016, the World Health Organization declared Zika virus (ZIKV) infection a public health emergency of international concern because it caused congenital Zika syndrome (CZS). The CZS is considered a specific pattern of birth defects caused by ZIKV infection, which is transmitted by the bite of the Aedes aegypti mosquito. The CZS clinical manifestations are broad and nonspecific, including microcephaly, subcortical calcifications, ocular alterations, congenital contractures, early hypertonia, and pyramidal as well as extrapyramidal symptoms. The ZIKV has gained great importance because it has affected a large percentage of the population worldwide during the last few years, despite the measures implemented by international organizations. The pathophysiology and non-vectorial transmission routes of the virus are still under study. The diagnosis is made upon suspicion of ZIKV infection, the patient's clinical manifestations, and it is confirmed by molecular laboratory tests demonstrating the presence of viral particles. Unfortunately, there is no specific treatment or vaccine for this condition; however, patients receive multidisciplinary care and constant monitoring. Therefore, the strategies that have been implemented are directed toward preventive measures and vector control.

Background: Urinary tract infection (UTI) is infants' most common serious bacterial infection. This study aimed to investigate the reliability of urianalysis (UA) to predict UTI, to specify the colony forming units (CFU)/ml threshold for diagnosis, and to identify variables that help suspect bacteremia in infants under 3 months with UTI.

Methods: We reviewed clinical records of children under 3 months hospitalized for a fever without source and recorded age, sex, days of fever pre-consultation, temperature and severity at admission, discharge diagnoses, laboratory tests, and treatments. According to the discharge diagnosis, we divided them into UTIs (-) and (+) with or without bacteremia.

Results: A total of 467 infants were admitted: 334 with UTI and 133 without UTI. In UTIs (+), the pyuria had a sensitivity of 95.8% and bacteria (+) 88.3%; specificity was high, especially for nitrites (96.2%) and bacteria (+) (92.5%). Positive predictive value (PPV) for nitrites was 95.9%, for bacteria 96.7%, and oyuria 92.5%. Escherichia coli was present in 83.8% of urine and 87% of blood cultures. UTIs with bacteremia had inflammatory urinalysis, urine culture > 100,000 CFU/ml, and higher percentage of C reactive protein (CRP) > 50 mg (p= 0.002); 94.6% of the urine culture had > 50,000 CFU.

Conclusions: The pyuria and bacteria (+) in urine obtained by catheterization predict UTI. The cut-off point for diagnosis was ≥ 50,000 CFU/ml. No variables to suspect bacteremia were identified in this study.

Background: Acute fetal distress (AFD) is a condition that requires timely diagnosis because it generates hypoxia, acidosis, and even intrauterine death. This study aimed to determine lactate and pH values in the umbilical cord in full-term newborns (NBs) with a history of AFD.

Methods: We conducted a cross-sectional study in full-term NBs of mothers with at least one perinatal, neonatal, or gasometric AFD antecedent. Neonatal morbidity was considered: if 1-min Apgar ≤ 6, or advanced neonatal maneuvers, or neonatal intensive care unit (NICU) admissions were necessary. The cutoff points were lactate > 4mmol/L and pH < 7.2.

Results: Of 66 NBs, 33.3% of mothers presented at least one antecedent for developing AFD; 22.7% presented hypertensive pregnancy disease, 13.6% oligohydramnios, and 63.6% other factors. Perinatally, 28.7% required advanced neonatal resuscitation maneuvers and 7.5% admission to the NICU. In the gasometry, the lactate and pH values for the neonatal morbidity of the NBs' group were 4.726 ± 1.401 and 7.293 ± 0.056, respectively, versus 2.240 ± 0.318 and 7.359 ± 0.022 (p < 0.05) for the group without associated neonatal morbidity.

Conclusions: Lactate values in the umbilical cord increased by 25%, and pH decreased by one percent in NBs with a history of AFD and associated morbidity.

Background: Coumel tachycardia is an infrequent form of supraventricular tachycardia (SVT) that usually occurs in infants and children. It is a tachycardia mediated by an accessory pathway with retrograde slow conduction that explains the classic ECG pattern with long RP' interval and negative P waves in leads II, III, and aVF. In this study, we describe the clinical course and management of Coumel tachycardia in children.

Case report: We conducted a retrospective review of five consecutive pediatric patients, mean age 11 ± 3 years (range 6 to 14). The first episode of SVT was at a mean age of 10.4 ± 4.8 years (range 2 to 14) with a mean evolution of 7.4 ± 9.4 months (range 1 to 24). Pharmacological therapy was unsuccessful despite the combination of antiarrhythmic drugs. The tachycardia was incessant with a density > 85% by 24-hour Holter monitoring; one patient developed tachycardia-induced cardiomyopathy. All children underwent successful radiofrequency catheter ablation, mean 5 ± 3 applications (range 1 to 8) with a single session and with no complications. After a mean follow-up of 24 ± 16 months, all patients were asymptomatic and recurrence-free without antiarrhythmic treatment.

Conclusions: Coumel tachycardia is clinically persistent and usually refractory to antiarrhythmic treatment with substantial risk of tachycardia-mediated cardiomyopathy. Catheter ablation is effective and safe in children; thus, it should be indicated promptly and based on individual selection.

Background: Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is characterized by atypical T-cells expressing the α/β T-cell receptor in the subcutaneous fat. Although it is usually indolent, some cases can show an aggressive course. It is usually a disease of the middle-aged, but can rarely affect children.

Case report: We describe the case of a 12-year-old male, previously healthy, who presented a dermatosis disseminated to the four segments consisting of vesicles, blisters, erythematous and hematonecrotic plaques, atrophic scars, associated with edema. The biopsy confirmed limited cutaneous panniculitic T-cell lymphoma with extensive epidermal necrosis.

Conclusions: We report the case of a SPTCL in a child. Although rare in this age group, the diagnosis should be considered in children who present similar conditions and who do not respond to treatment. Diagnosis is made on clinical suspicion and confirmed by histology. We discuss the challenges in its management and how timely diagnosis influences patient survival.

Development and formation of the heart, the central organ of the circulatory system in vertebrates, starts early during embryonic development (second week), reaching maturity during the first few postnatal months. Cardiogenesis is a highly complex process that requires the active and orderly participation of different cardiac and non-cardiac cell populations. Thus, this process is sensitive to errors that may trigger a variety of heart-development defects, called congenital heart defects, which have a worldwide incidence of 8-10/1000 live births. A good understanding of normal cardiogenesis is required for better diagnosis and treatment of congenital heart diseases. This article reviews normal cardiogenesis by comparing information from classic studies with more recent findings. Information from descriptive anatomical studies of histological sections and selective in vivo marking of chicken embryos were emphasized. In addition, the discovery of heart fields has fueled the investigation of cardiogenic events that were believed to be understood and has contributed to proposals for new models of heart development.

Background: As retinoblastoma (RB) is the most frequent primary intraocular malignant tumor in childhood, it should be the main pathology to rule out in pediatric patients with leukocoria. Persistence of fetal vasculature (PFV) is within the differential diagnosis of leukocoria, a vitreous disorder arising from a defect in the involution of the hyaloid vasculature in the embryonic stage, which affects normal ocular development and commonly produces associated microophthalmia. An early diagnosis and timely treatment are crucial for a better prognosis and life expectancy of the child.

Case report: We present a case of retinoblastoma and coexisting with PFV: a 2-years-and 11-months-old male with no red reflex, and vasculature and yellowish-white membrane behind the lens of the right eye. B-mode ultrasound with disorganization of the vitreous cavity with high reflectivity echoes suggestive of calcification. On examination we found an enlarged eyeball, rubeosis iridis, posterior vasculature, intraocular pressure 28 mmHg. Computed tomography with heterogeneous intraocular mass with hyperdense regions. With a diagnosis of probable retinoblastoma, enucleation was performed. Histopathology reported moderately differentiated retinoblastoma coexisting with PFV.

Conclusions: The finding of these two diagnoses in the same eye is very rare due to the different pathophysiology.

Background: Gorham-Stout disease (GSD) is a rare syndrome characterized by lymphatic malformations, mainly in bone structures, causing progressive osteolysis. Lymphatic endothelial cell proliferation depends on several growth factors that use the phosphoinositide-3 kinase (PI3K)/Akt pathway and converge on the mammalian target molecule of the rapamycin (mTOR) pathway. These findings have allowed treating GSD with mTOR pathway inhibitors such as sirolimus or everolimus.

Case report: We present the case of a one-year-old female patient referred to our institution after a right femur fracture and progressive limb volume increase, disproportionately to the trauma. After several episodes of soft tissue infections, imaging studies showed pseudarthrosis, lytic lesions, and progressive loss of the right femur that ended in total absence. A femur biopsy showed lymphatic structures positive with D2-40 staining, diagnosing GSD. After six months of non-response to traditional treatments, the limb was disarticulated at the hip level, and oral sirolimus treatment was initiated, showing clinical and radiological improvement with minor lytic lesions and evidence of ossification after 20 months of treatment.

Conclusions: Oral sirolimus treatment for GSD inhibits angiogenesis and osteoclastic activity, stimulating bone anabolism and leading to arrested osteolysis progression and improved ossification, quality of life, and patient prognosis. Therefore, sirolimus should be considered a therapeutic option for this rare disease.