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Spinal muscular atrophy with respiratory distress type 1 (SMARD1; OMIM #604320, ORPHA:98920) is a rare autosomal recessive congenital motor neuron disease. It is caused by variants in the IGHMBP2 gene. Clinically, it presents with respiratory failure due to diaphragmatic paralysis, progressive muscle weakness starting in the distal parts of the limbs, dysphagia, and damage to sensory and autonomic nerves. Unlike spinal muscular atrophy (SMA), SMARD1 has a distinct genetic etiology and is not detected in the population newborn screening programs. Most children with SMARD1 do not survive beyond the first year of life due to progressive respiratory failure. Artificial ventilation can prolong survival, but no specific treatment is available. Therapy focuses on mechanical ventilation and improving the patient's quality of life. Research into gene therapy is ongoing. We report three female patients with SMARD1, including twins from a triplet pregnancy. In twin sisters (patient no. 1 and patient no. 2), two heterozygous variants in the IGHMBP2 gene were identified: c.595G>C/p.Ala199Pro and c.1615_1623del/p.Ser539_Tyr541del. In patient no. 3, a variant c.1478C>T/p.Thr493Ile and a variant c.439C>T/p.Arg147* in the IGHMBP2 gene were detected. Our findings underscore the variability of clinical presentations, even among patients sharing the same pathogenic variants in the IGHMBP2 gene, and emphasize the importance of early genetic diagnosis in patients presenting with respiratory failure, with or without associated diaphragmatic muscle paralysis.
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Proteínas de Ligação a DNA , Atrofia Muscular Espinal , Síndrome do Desconforto Respiratório do Recém-Nascido , Fatores de Transcrição , Humanos , Feminino , Proteínas de Ligação a DNA/genética , Fatores de Transcrição/genética , Atrofia Muscular Espinal/genética , Atrofia Muscular Espinal/patologia , Síndrome do Desconforto Respiratório do Recém-Nascido/genética , Síndrome do Desconforto Respiratório do Recém-Nascido/patologia , Lactente , Recém-Nascido , MutaçãoRESUMO
Macrodactyly is a rare congenital limb difference manifesting as an overgrowth of one or more fingers or toes. The pathological process affects all tissues of the ray in the hand or foot. The enlargement can significantly alter the limb's appearance and impair its function. The role of a pediatrician is to distinguish isolated macrodactyly from syndromic conditions (including PIK3CA-Related Overgrowth Spectrum) or mimicking conditions to enable early interdisciplinary consultation and treatment planning. The psychological stigma associated with this often disfiguring condition necessitates support for patients and their family. We present a practical guide for physicians who might be the first to raise suspicion of macrodactyly and initiate further diagnostics to achieve adequate treatment and support for children and caregivers.
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Background: Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder affecting psychomotor, social, and intellectual development, caused by a mutation in the TCF4 gene. The study aims to gather the phenotype and genotype data of PTHS patients from Poland and to assess the quality of life (QoL) and the impact of the disorders on the family. Methods: Eight families with PTHS participated in the study. To obtain data, the following standardized questionnaires were used: Questionnaire on Clinical Problems (QCP), the PedsQL™ Family Impact Module, and the QL-Disability Questionnaire. Additionally, a retrospective analysis of clinical examination, genetic consult, medical history, and genotype of each individual was performed. Results: All of the examined children exhibited a mutation in the TCF4 gene and typical features of PTHS. The most prevalent clinical symptoms in the study group included typical PTHS appearance, intellectual disability (n = 5; as the rest of the patients were too young to be assessed), abnormal speech development (n = 8), reduced pain response (n = 7), constipation (n = 7), drooling (n = 7), cold extremities (n = 7), and disturbances in sensory integration processes (n = 7). The QL-Disability Questionnaire revealed a total QoL score of 67.7/100 for children with PTHS, while the QoL for their families in the PedsQL Family Impact Module was 53.82/100. The highest-rated domain was cognitive functioning (Median (Me) = 67.50; Standard Deviation (SD) = 21.95), while the lowest was daily activities (Me = 25.00; SD = 29.86). Conclusions: The study allowed the collection of data on the phenotype and genotype of children with PTHS living in Poland. Overall, our study showed that the QoL of children with PTHS is impaired.
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Magnet ingestion can lead to serious health issues, including inflammation, gastrointestinal tract perforation, and even life-threatening complications. Despite legislative actions and numerous reports on the dangers of magnet ingestion in children, it remains a significant public health concern. Physicians must remain vigilant in cases of acute abdomen with ambiguous symptoms or unclear history in young patients. Prompt diagnosis and surgical intervention in case of multiple magnet swallowing are crucial to prevent complications. We present two cases of successful removal of ingested magnetic spheres through laparoscopic appendectomy in adolescents. This study aimed to highlight the technical aspects of the procedure to share the benefits of minimally invasive surgery (MIS) in the management of magnetic foreign bodies (FBs) located in the appendix or cecum.
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PURPOSE: to determine management problems of ovarian masses in girls in order to form a baseline for prospective randomized studies of the established topics and quality improvement of our management. MATERIALS AND METHODS: We performed a national analysis of clinical aspects of ovarian masses in girls operated on in Poland, analyzed retrospectively medical files of all consecutive patients aged 0-18 who underwent surgeries for ovarian lesions between 2012 and 2017 at 17 pediatric surgical departments and complemented the analysis with a scoping review of a recent primary research related to ovarian masses in children. RESULTS: The study group comprised 595 patients. Forty-four (7.39%) girls were diagnosed with malignant tumors. The overall preservation rate was 64.54%. The analysis revealed that positive tumor markers (OR = 10.3), lesions larger than 6 cm (OR = 4.17) and solid mass on ultrasound examination (OR = 5.34) are interdependent variables differentiating malignant tumors from non-malignant lesions (X42 = 79.1; p = 0.00000). Our scoping review revealed 10 major branches of research within the topic of ovarian masses in pediatric population. CONCLUSIONS: We have developed an overview of the field with the emphasis on the local environment. Our next step is a multi-institutional prospective study of a quality improvement project implementation based on the obtained knowledge.
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Cistos Ovarianos , Neoplasias Ovarianas , Biomarcadores Tumorais , Criança , Feminino , Humanos , Cistos Ovarianos/diagnóstico , Cistos Ovarianos/cirurgia , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/cirurgia , Estudos Prospectivos , Estudos RetrospectivosRESUMO
Omental infarction (OI) is a rare disease occurring in children. Important risk factors include overweight and obesity. The clinical presentation is often non-specific, and the main symptom is acute abdominal pain. In addition, infarcted omentum may present with fever, anorexia, nausea, vomiting, diarrhea and dysuria. Due to the localisation of the pain, OI should be differentiated from acute appendicitis. The diagnosis of OI is sometimes made intraoperatively, during appendectomy for suspected acute appendicitis. Hence, it is important to state a correct preoperative diagnosis, which is commonly based on abdominal ultrasound and computed tomography. The treatment of OI is still inconclusive. Both conservative and surgical treatments are used. Both methods have their advantages and disadvantages. The decision of which treatment to follow should be multifactorial and include the patient's clinical condition at the time of admission, the progression or regression of symptoms during hospitalization and laboratory and imaging findings. We present a clinical case of a 9-year-old overweight girl with OI, whose diagnosis was based on imaging diagnostics and enabled conservative treatment with no complications. The case we have described confirms that the conservative treatment is an effective and safe therapy.
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Apendicite , Tratamento Conservador , Apendicectomia , Apendicite/diagnóstico por imagem , Apendicite/cirurgia , Criança , Diagnóstico Diferencial , Feminino , Humanos , Infarto/diagnóstico por imagem , Infarto/terapia , Omento/cirurgiaRESUMO
BACKGROUND: Propranolol is an effective method of treatment for infantile hemangiomas (IH). A recent concern is a shift of the therapy into outpatient settings. OBJECTIVES: The aim of the study was to evaluate the safety of initiating and maintaining propranolol therapy for IH. MATERIAL AND METHODS: The study involved 55 consecutive children with IH being treated with propranolol. The patients were assessed in the hospital at the initiation of the therapy and later in outpatient settings during and after the therapy. Each time, the following monitoring methods were used: physical examination, cardiac ultrasound (ECHO), electrocardiography (ECG), blood pressure (BP), heart rate (HR), and biochemical parameters: blood count, blood glucose, aspartate transaminase (AST), alanine transaminase (ALT), and ionogram. The therapeutic dose of propranolol was 2.0 mg/kg/day divided into 2 doses. RESULTS: Four children were excluded during the qualification or the initiation of propranolol; a total of 51 patients were subject to the final analysis. All the children presented clinical improvement. There was a significant reduction in the mean HR values only at the initiation of propranolol. There were no changes in HR during the course of the therapy. Blood pressure values were within normal limits. Both systolic and diastolic values decreased in the first 3 months. Bradycardia and hypotension were observed sporadically, and they were asymptomatic. Electrocardiography did not show significant deviations. The pathological findings of the ECHO scans were not a contraindication to continuing the therapy. There were no changes in biochemical parameters. Apart from 1 symptomatic case of hypoglycemia, other low glucose episodes were asymptomatic and sporadic. The observed adverse effects were mild and the propranolol dose had to be adjusted in only 6 cases. CONCLUSIONS: Propranolol is effective, safe and well-tolerated by children with IH. The positive results of the safety assessment support the strategy of initiating propranolol in outpatient settings. Future studies are needed to assess the benefits of the therapy in ambulatory conditions.
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Antagonistas Adrenérgicos beta/administração & dosagem , Hemangioma/tratamento farmacológico , Propranolol/administração & dosagem , Neoplasias Cutâneas , Administração Oral , Antagonistas Adrenérgicos beta/efeitos adversos , Antagonistas Adrenérgicos beta/uso terapêutico , Pressão Sanguínea/efeitos dos fármacos , Criança , Frequência Cardíaca/efeitos dos fármacos , Humanos , Lactente , Propranolol/efeitos adversos , Propranolol/provisão & distribuição , Neoplasias Cutâneas/tratamento farmacológico , Resultado do TratamentoRESUMO
BACKGROUND: Propranolol has become the treatment of choice for infantile hemangiomas (IH). Neither the pathogenesis of IH nor the mechanism of action of propranolol on them are well understood. Possible explanations include the inhibition of angiogenesis by decreasing vascular endothelial growth factor (VEGF) and basic fibroblast growth factor (bFGF), induction of vascular endothelial cell apoptosis and vasoconstriction. OBJECTIVES: The aim of the study was to assess serum concentrations of VEGF and bFGF in the course of propranolol therapy of IH in children, and to assess their clinical implications. MATERIAL AND METHODS: The study included 51 children with IH treated with propranolol. The participants were assessed before, during and after the therapy with Hemangioma Activity Score (HAS), Doppler ultrasound (US) of the lesions, as well as VEGF and bFGF serum concentrations. RESULTS: All children showed clinical improvement measured in the HAS. A complete involution of the IH was reported in 32 (63%) children at the time of decision of the gradual withdrawing of propranolol, and in 28 (61%) patients at the end of the treatment (out of 46 patients present at the follow up after 1.5 months). Doppler US at the follow-up showed a complete disappearance of the blood flow in the lesion in 24 (52%) children and its reduction in 12 (26%) children. There was a significant decrease in VEGF and bFGF during and after treatment compared to pretreatment values. There was a correlation between the outcome of the Doppler US and changes in bFGF during and after treatment. Changes in VEGF during treatment did not correlate with changes in the Doppler US. CONCLUSIONS: Serum concentrations of VEGF and bFGF decreased during the propranolol treatment of IH, which may indicate the effect of propranolol on both. However, the statistical analysis showed their low prognostic value as biochemical markers of propranolol treatment. Clinical evaluation combined with Doppler US is the most valuable method of monitoring the therapy.
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Fator 2 de Crescimento de Fibroblastos/sangue , Hemangioma/tratamento farmacológico , Propranolol/uso terapêutico , Fator A de Crescimento do Endotélio Vascular/sangue , Vasodilatadores/uso terapêutico , Criança , Fator 2 de Crescimento de Fibroblastos/efeitos dos fármacos , Hemangioma/diagnóstico por imagem , Humanos , Lactente , Neovascularização Patológica , Resultado do Tratamento , Ultrassonografia Doppler , Fator A de Crescimento do Endotélio Vascular/efeitos dos fármacosRESUMO
During infancy, skin inflammation is usually treated in basic pediatric care. In this study, we present a case of an 8-month-old girl with a 2-month history of an inflammation of the thigh treated locally by ointments and oral antibiotics in basic and dermatological care. The patient had a history of fever, sweating, and failure to thrive. The lactate dehydrogenase was elevated up to 869 U/L with low C-reactive protein (1.04 mg/L). Magnetic resonance imaging of the thigh reassured the diagnosis of local inflammation. Intravenous antibiotic caused mild local improvement, but the episodes of high fever sustained. The patient was transferred to our pediatric surgery department for treatment and surgical biopsy of the lesion. Histopathological examination confirmed a subcutaneous panniculitis-like T-cell lymphoma, which is a rare cytotoxic T-cell lymphoma representing less than 1% of non-Hodgkin lymphomas, uncommon in children. The patient was introduced to a chemotherapy protocol EURO-LB 2002 with good response. In a skin lesion that is associated with systemic symptoms and responding untypically to antibiotic treatment malignancy should be considered and biopsy not be postponed.
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Introduction: Infantile haemangiomas located in the periocular region are a signiôicant clinical problem. When untreated, they can lead to serious complications that can inhibit the proper development of vision. As they are often inaccessible surgically, a noninvasive eye -saving therapy is required. The aim of the study was to assess the effectiveness of propranolol treatment for inoperable periocular haemangiomas (PH) in children. Material and methods: Seventeen children with haemangiomas of the upper and lower eyelid and internal eyelid angle were thoroughly examined. Lesions were seriously affecting movement of eyelids leading to ptosis in most of cases, but anisometric astigmatism and exophtalmia were also diagnosed. Patients were carefully qualiôied for propranolol treatment and were re -evaluated when therapy was completed. Results: In all of the described cases brightening and softening of the lesion were observed from the ôirst days of therapy. Ninety percent of patients showed signs of complete involution. In 5 cases a mild discolouration or skin enhancement persisted. All children presented signiôicant functional improvement. An 86% reduction of astigmatism was found in cases that were diagnosed initially. Conclusions: In conclusion, early diagnosis and introduction of propranolol for PH reduce the risk of complications that pose a threat to eye function. Measurement of astigmatism reduction may be a useful tool to establish a proper moment to cease the therapy. Propranolol is the ôirst choice treatment option in PH based on its effectiveness, speed of action, and low rate of side effects.
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Antineoplásicos/uso terapêutico , Neoplasias Palpebrais/tratamento farmacológico , Hemangioma/tratamento farmacológico , Propranolol/uso terapêutico , Astigmatismo/tratamento farmacológico , Astigmatismo/etiologia , Pré-Escolar , Neoplasias Palpebrais/complicações , Feminino , Hemangioma/complicações , Humanos , Lactente , Masculino , Resultado do TratamentoRESUMO
Desmoids are benign tumours originating from connective tissue. Their uncontrolled growth can threaten organ function, especially in the abdominal location, when presenting as mesenteric fibromatosis. There have been only a few case reports of the coexistence of mesenteric fibromatosis and Crohn's disease. All of them were in adults, mostly with potential risk factors for desmoid tumours including female sex, oestrogen intake and abdominal surgery. We present, to our knowledge, the first paediatric case of the coexistence of both conditions. A 15 -year -old boy was operated on due to an obstruction of the gastrointestinal tract. Preoperative radiological examination suggested a tumour causing intussusception. Intraoperatively, a tumour and a significant length of infiltrated ileum were resected. Histopathological examination confirmed a desmoid tumour in the course of mesenteric fibromatosis and Crohn's disease. The patient has been treated pharmacologically since. Further research is needed to explain their origin and simultaneous appearance in children.
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Doença de Crohn/complicações , Fibromatose Abdominal/complicações , Fibromatose Agressiva/complicações , Neoplasias Peritoneais/complicações , Adolescente , Fibromatose Abdominal/diagnóstico , Fibromatose Abdominal/tratamento farmacológico , Fibromatose Abdominal/cirurgia , Fibromatose Agressiva/diagnóstico , Fibromatose Agressiva/tratamento farmacológico , Fibromatose Agressiva/cirurgia , Humanos , Masculino , Mesentério/cirurgia , Neoplasias Peritoneais/diagnóstico , Neoplasias Peritoneais/tratamento farmacológico , Neoplasias Peritoneais/cirurgiaRESUMO
We present a rare case of an iatrogenic pseudoaneurysm of the brachial artery in a 4-month-old child. As there are reports of such lesions in children that undergo invasive treatment such as sophisticated cardiovascular or radiological interventions and have preexisting risk factors, our patients had no history of vessel caniulation in hospital conditions and no systemic problems. A simple ambulatory blood draw caused a tear in the brachial artery wall, that later formed a pseudoaneurysm, a month before parents suddenly noticed mass on their child's arm. A microsurgical repair was performed. A significant increase in endovascular treatment options has been observed over last decades. Successful treatment was a result of fast radiological diagnostic and effective co-operation between paediatric and general vascular surgeons. Our case should raise awareness of paediatric practitioners about iatrogenic trauma of vessels in the differential diagnosis of tumours and vascular lesions.
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Falso Aneurisma/diagnóstico por imagem , Falso Aneurisma/cirurgia , Braço/irrigação sanguínea , Falso Aneurisma/etiologia , Artéria Braquial/diagnóstico por imagem , Humanos , Doença Iatrogênica , Lactente , Masculino , Microcirurgia/métodos , Tomografia Computadorizada por Raios X , Ultrassonografia de IntervençãoRESUMO
We present a child with a rare finding of an extralobar pulmonary sequestration localized in the upper mediastinum. Findings of the prenatal screening enabled early postnatal diagnostic measures that revealed a heterogeneous mass situated next to the thymus. Based on the localization and inconclusive computed tomography images, the preoperative prediagnoses included enterogenic cyst, thymus cyst and teratoma. Intraoperative features of the vascular supply and structure of the mass drew the surgeons' suspicion to extralobar pulmonary sequestration, which was confirmed in the histopathological examination. The scans were reevaluated after the surgery. Surgical management was implemented prior to the occurrence of any symptoms, which led to a positive general outcome. The presented case should raise the awareness of radiologists, pediatric surgeons and other consultants involved in the diagnostic process of mediastinal lesions in children. The rare localization and lack of visualization of a systemic feeding artery can divert suspicion away from extralobar pulmonary sequestration in the preoperative differential diagnosis.