Archivos argentinos de pediatria最新文献

Langerhans cell histiocytosis (LCH) is a rare disease that predominantly affects children, characterized by the abnormal clonal proliferation of Langerhans cells with a broad clinical spectrum and prognosis. Refractory LCH to standard treatment usually presents multisystem and risk organs involvement, and mainly affects children under 2 years of age. In these cases, more than half present the BRAF-V600E mutation; detection of this mutation is essential for targeted treatment, such as vemurafenib, a BRAF inhibitor. We present the case of a 6-month-old patient diagnosed with multisystemic LCH without involvement of risk organs, who responded poorly to first- and second-line therapy. A molecular biology study was performed, which reported a BRAF-V600E mutation. Treatment with vemurafenib was indicated, and a good clinical response was obtained after 2 weeks.

Carney complex (CC) is characterized by myxomas, pigmented skin lesions, and endocrine hyperactivity, with a predisposition to tumors. Primary pigmented nodular adrenocortical disease (PPNAD) is notable, manifesting with subclinical, progressive, or cyclical symptoms of Cushing's syndrome (CS) caused by endogenous adrenocorticotropic hormone-independent hypercortisolism, and characterized by a paradoxical increase in urinary free cortisol after a corticosteroid suppression test. PPNAD should be suspected in patients with cyclic CS, and its association with CC should be considered. In cases of strong clinical suspicion, a suppression test should be performed to demonstrate the characteristic paradoxical response and ensure an early diagnosis to avoid the long-term repercussions of hypercortisolism. We describe two patients with clinical and molecular diagnosis of CC who presented with PPNAD with a characteristic biochemical pattern treated with bilateral adrenalectomy in both cases.

The core sets (CS) of the International Classification of Functioning, Disability and Health (ICF) for cerebral palsy (CP) have been applied in different contexts but have not been operationalized in the CP population in Argentina. To select instruments for implementation, a four-stage cross-sectional study was conducted: training in ICF, consensus on instruments, evaluation of intra- and interobserver agreement, and pilot testing. Sixtynine professionals participated in the training, and 13 in the consensus. In the first round, agreement was reached in 15 of 24 categories (92.8%), and new options were proposed for the remaining ones. The second round achieved 95.6% agreement. Intra-observer agreement was 0.84, and inter-observer agreement was 0.86. The pilot test (n = 7) allowed five categories to be adjusted. The first national protocol for assessing ICF CS in children with CP is thus proposed.

Introduction. Specialized units for children with medical complexity (CMC) aim to improve the quality of life of these patients. The objective of this study is to analyze the characteristics of patients and families evaluated in a recently created CMC specialized unit, as well as factors related to their quality of life. Population and methods. Analytical cross-sectional study that included CMCs seen in a monographic consultation between 2020 and 2024. Clinical data were collected, and parents completed a questionnaire with questions taken from quality-of-life scales. Results. We included 60 of the 217 children who were seen. The mean age was 7.18 years. 68.3% were male. 41.7% had cerebral palsy; 38.3% were dependent on technical support. About the questions, 11/19 related to parents and 1/12 related to patients showed negative answers. Risk factors were non-Spanish origin, behavioral disorders, and sleep disturbances. Conclusions. Our results showed different perspectives on quality of life between CMCs and their families, identifying origin, behavior, and sleep as risk factors.

Denosumab has been shown to improve post-surgical morbidity in resectable lytic bone neoplasms with high RANK-L expression and to halt disease progression in unresectable cases. Intra- and post-treatment adverse effects have been reported. We conducted a prospective, descriptive study including six patients with lytic bone neoplasms treated with denosumab. The median age at onset treatment was 7.4 years, and the male-to-female ratio was 5:1. Five patients showed a favorable response. All patients developed hypocalcemia and hypophosphatemia during treatment, requiring adjustments in calcium and ergocalciferol/cholecalciferol supplementation (6/6), the addition of calcitriol (5/6), and phosphate salts (3/6). Metaphyseal bands were observed in 4 out of 6 patients. No fractures were reported, and most patients did not show evidence of impaired growth. Four patients experienced post-treatment hypercalcemia. Risk factors included younger age, a higher number of doses, and the presence of metaphyseal bands.

Langerhans cell histiocytosis is a rare disease characterized by the accumulation of Langerhans cells, which are myeloid dendritic cells, associated with significant inflammation and varied systemic involvement. Gastrointestinal involvement is rare, preceded in more than 80% of cases by skin lesions. We report the case of a 5-month-old girl whose clinical presentation was skin lesions and proctorrhagia. A transdisciplinary approach allowed us to reach a diagnosis and initiate timely treatment.

We describe a patient with a homozygous loss-of-function mutation in NR1H4, presenting with idiopathic mild elevation of transaminases. His presentation differs from the limited previously reported cases of progressive familial intrahepatic cholestasis type 5 (PFIC5). Case report: A 7-year-old boy was admitted to our outpatient clinic due to persistently elevated transaminases since 12 months of age. While PFIC5 is typically a rapidly progressive disease requiring liver transplantation, this patient's laboratory results showed normal gamma-glutamyl transferase (GGT), international normalized ratio (INR), albumin, and alpha-fetoprotein (AFP) levels. Liver biopsy revealed only mild fibrosis. Over a two-year follow-up, he has remained stable with mild transaminase elevation. Conclusion: Infants with cryptogenic liver disease should be evaluated for NR1H4 mutations-associated PFIC5. This mutation may represent a novel metabolic etiology of idiopathic, mildly elevated transaminases.

Invasive fungal infections, especially aspergillosis, severely affect immunocompromised patients. The use of azoles, particularly voriconazole, has been considered an effective antifungal therapy for the treatment of these infections and prevention. However, cases of peripheral neuropathy have been reported in patients treated with this drug. We present two clinical cases of patients with immunocompromise (acute myeloblastic leukemia and primary immunodeficiency) who, during treatment with voriconazole, developed peripheral sensory motor axonal polyneuropathy, which completely resolved after discontinuation of the medication. Given the rapid resolution of the clinical manifestations after discontinuation of the drug, we consider it essential to keep this neurotoxicity in mind as a differential diagnosis in children exposed to multiple medications.

Hypovitaminosis D (HD) is a relevant deficit. This vitamin has implications in bone health, as well as immunological and metabolic functions, and in the pathophysiology of cancer. Pediatric oncology patients are at increased risk for this deficiency. A cross-sectional, retrospective study was conducted to determine the prevalence of HD in pediatric oncology patients in a high-complexity hospital between January 2019 and August 2023. Eighty-nine patients were included. The overall median vitamin D levels were 18.3 ng/mL (IQR: 11.1-26.7). The prevalence of HD was 52.8% (95%CI: 41.9-63.5). These results indicate that, in this sample, more than half of pediatric oncology patients present HD. We emphasize the importance of determining the levels of this vitamin at diagnosis and during treatment of the disease in this highly vulnerable group.