Boletín médico del Hospital Infantil de México最新文献

Background: Hypokalemic periodic paralysis (HPP) is a rare genetic neuromuscular disorder characterized by an autosomal dominant inheritance pattern and a variable clinical phenotype. It is associated with low potassium levels due to defects in muscle ion channels. HPP can be life-threatening, but it can be completely reversed if diagnosed and treated promptly and correctly. Pathogenic variants in a heterozygous in the CACNA1S or SCN4A genes lead to HPP.

Clinical case: We present a 16-year-old male with a clinical history of flaccid paralysis associated with hypokalemia following intense physical activity and subsequent COVID-19 infection. During this evaluation, his 12-year-old maternal half-brother exhibited similar symptoms related to intense physical exercise. The affected mother, maternal aunt, and maternal grandfather have variable clinical histories. Genetic testing identified a heterozygous pathogenic variation in the CACNA1S gene (c.2700G>T; p.Arg900Ser) in the patient, his mother, and maternal half-brother.

Conclusion: The availability of a positive family history facilitates diagnostic guidance and provides insight into the factors triggering crises. Education is the first step in contributing to prevention and management. Furthermore, understanding the etiological cause is crucial for offering available therapeutic options and providing family genetic counseling.

Background: In Ibero-Latin America, the use of probiotics in pediatrics has increased in recent decades; however, clinical practice shows significant variability across countries and specialties. This situation prompted the development of a regional consensus based on the best available evidence and expert experience.

Objective: To develop an Ibero-Latin American clinical practice guideline on the use of probiotics in pediatric gastroenterology, hepatology, and nutrition.

Methods: A multidisciplinary panel of specialists from 12 countries, including gastroenterologists, hepatologists, nutritionists, and pediatricians, was convened. A systematic literature review was conducted in PubMed, Scopus, and Cochrane Library through December 2023. Evidence was assessed using the GRADE methodology, and key clinical questions were formulated. Recommendations were discussed and refined through a three-round Delphi process until consensus was reached.

Results: Specific recommendations were developed for the use of probiotics in acute diarrhea, antibiotic-associated diarrhea, gastrointestinal infections, functional gastrointestinal disorders, and inflammatory diseases. Strains and doses with proven efficacy, such as Lactobacillus rhamnosus GG and Saccharomyces boulardii, were identified, and clinical scenarios where probiotic use is not justified were defined. The final consensus incorporated considerations of safety, applicability, and regional context.

Conclusions: This guideline represents the first Ibero-Latin American collaborative effort to unify criteria for the use of probiotics in pediatrics, providing a practical and evidence-based framework to improve clinical care across the region.

Background: Nevus Lipomatosus Cutaneous Superficialis (NLCS) is a rare benign tumor characterized by the presence of ectopic adipocytes distributed among the collagen bundles in the dermis. Dermoscopy of this lesion has been poorly documented, but it aids in diagnosis.

Clinical case: A female patient, 11 years and 5 months old, presented with lesions in the lumbar region that had gradually increased in size and number since birth. In September 2023, she was evaluated at CMN La Raza, where a lesion in the lumbar region was observed, consisting of a linear plaque measuring 30 × 15 mm in diameter, composed of multiple skin-colored papules and nodules that coalesced. Dermoscopy revealed a cerebriform surface, a web-like pigment network, and the presence of yellowish structureless areas. Histopathology showed a proliferation of mature adipocytes in the reticular and papillary dermis. The adipocytes were located perianexally, perivascularly, and dispersed among the collagen bundles. An increase in the density of collagen bundles was observed. The diagnosis was NLCS. The lesion was completely excised without recurrence.

Conclusions: The condition may be underdiagnosed due to a lack of medical familiarity. Dermoscopy facilitates a more accurate diagnosis. An increased number of reports will contribute to the creation of a database for future studies and potential associations.

Background: Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) affects between 0.5% and 5% of pediatric patients. This condition is caused by a dysfunction of pancreatic β-cells, leading to tumors and hyperinsulinism, which result in persistent hypoglycemia. These episodes are often resistant to conventional treatment and require interventions to reduce insulin production and increase glucose levels, thereby restoring metabolic balance.

Clini calcases: We present three cases of PHHI. The first is a four-day-old Rarámuri patient with persistent hypoglycemia, diagnosed after a pancreatectomy and biopsy. The second case is a three-day-old Rarámuri patient with persistent hypoglycemia and a pancreatic lesion detected by scintigraphy, with PHHI confirmed after pancreatectomy. The third case is a three-day-old female patient with hypoactivity and persistent hypoglycemia, who was also diagnosed with PHHI after a pancreatectomy.

Conclusions: While clinical presentation and biochemical findings raise high diagnostic suspicion, histopathological confirmation is essential. Early diagnosis is key to preventing long-term sequelae. PHHI should be considered in the differential diagnosis of hyperinsulinemic hypoglycemia, such as prematurity, intrauterine growth restriction, low birth weight, maternal diabetes, tyrosinemia type 1, or Beckwith-Wiedemann syndrome. These cases highlight the complexity of PHHI and its unusual presentation in the Rarámuri ethnic group, underscoring the importance of culturally sensitive medical care.

Background: Phlebotomy-associated blood loss is a clinical concern in term and pre-term newborns. Previous reports have associated a higher volume of phlebotomy associated blood loss to a more pre-term status and to the need for blood transfusions. The present study was undertaken to evaluate the amount of phlebotomy-associated blood loss and its associations.

Methods: Retrospective, observational, and analytical study conducted through a retrospective chart review. The primary objective was to determine the association between the presence of the endpoint "any complications" and the mean phlebotomy-associated blood loss in milliliters/kilograms (mL/kg). Blood loss was quantified using the corresponding documentation sheet in the clinical record, as reported by the nursery service.

Results: 176 patients were included in the present study. Male: female ratio was 1.67:1.00. Mean gestational weeks was 34.2 with a standard deviation of 3.7. Patients meeting the composite endpoint "any complications" had a higher mean mL/kg of phlebotomy-associated blood loss than those who did meet it (10.93 vs. 2.91, p < 0.001). In addition, patients requiring blood transfusions had higher mL/kg of phlebotomy-associated blood loss than those who did not (21.16 vs. 4.21, p < 0.001). Finally, more pre-term status was significantly associated with a higher phlebotomy-associated blood loss (p < 0.001).

Conclusions: The presence of any complications, more pre-term status and need for blood transfusions was significantly associated with a higher mL/kg phlebotomy-associated blood loss. Bigger, prospective studies controlling other variables and temporality are needed to fully grasp the clinical consequences of a high mL/kg phlebotomy-associated blood loss.

Background: Recurrent respiratory papillomatosis is a condition that occurs mainly in the pediatric population with a rate of 3.62 to 4.3 per 100,000 children. The most common clinical manifestation is dysphonia; however, the disease can progress to more severe forms, generating serious obstruction of the airway.

Methods: A cross-sectional study was conducted in which patients diagnosed with laryngeal papillomatosis confirmed by histopathological analysis and polymerase chain reaction were included. The genotype of the virus and its viral load were determined through a search in the clinical records, and the clinical and genetic variables of each case were captured through a structured form.

Results: A total of 32 patients were enrolled, of which the prevalence of genotype 6 was found in 41% and the same prevalence in the case of genotype 11, with a percentage of coinfection with both subtypes of 18%. Genotype 11 was found to be associated with a greater number of resections (p = 0.004), a higher score on the Derkay scale (p = 0.02) and greater severity when presenting ≥ 4 surgeries per year and/or ≥ 10 total surgeries (p = 0.04).

Conclusions: Human papillomavirus genotype 11 showed a greater association with the presentation of greater severity of recurrent respiratory papillomatosis in pediatric patients; therefore, this population is more susceptible to a poor outcome (which increases the demand for medical services), as well as impact on the quality of life of minors.

Lung ultrasound has become a valuable tool in neonatal intensive care practice, with exponential diffusion of evidence of its diagnostic and functional applications over the last decade. In this pictorial essay, we review animal models and clinical cases where diagnosis was confirmed with high-resolution pulmonary computed tomography/cardiac angiotomography, biopsies, or autopsies, pointing out the main ultrasound features of neonatal respiratory disorders.

Background: Decanulation in paediatric patients with tracheostomy due to acquired brain injury is a key objective in rehabilitation, and there is a lack of consensus about the optimal protocol and success factors in decannulation. Therefore, the aim of this study is to describe the experience of decannulation in a paediatric neurorehabilitation centre in Buenos Aires.

Methods: An observational, retrospective, and descriptive study was conducted on patients under 18 years old with acquired brain injury and tracheostomy, admitted between January 2016 and August 2023. Demographic, clinical data, and fibroendoscopy results were collected. Decannulation was performed according to institutional criteria, and a 48-hour monitoring period was implemented to evaluate post-decannulation complications.

Results: Of the 41 patients included in the study, 12 (29.3%) were successfully decannulated, while 29 (70.7%) were discharged with a speaking valve, an occluded cannula, or with the initial tracheostomy configuration. Fibroendoscopy was performed on 13 patients, detecting lesions in 11 cases.

Conclusions: The decannulation rate observed falls within the range documented in the literature, although it is closer to the lower end, which may be due to the complexity of the cases and the conservative approach adopted. The presence of disorders of consciousness and comorbidities were important factors in the decannulation process.