Subject(s)
Arteriovenous Fistula , Central Nervous System Vascular Malformations , Infant , Humans , Cranial Sinuses/diagnostic imaging , Cranial Sinuses/surgery , Arteriovenous Fistula/diagnostic imaging , Arteriovenous Fistula/surgery , Central Nervous System Vascular Malformations/diagnostic imaging , Central Nervous System Vascular Malformations/surgery , Cerebral AngiographyABSTRACT
INTRODUCTION: Intracranial aneurysms are rare in the pediatric population, and their diagnosis can be challenging. They differ from their adult counterparts in several aspects, and hemorrhage is the most common presentation. OBJECTIVE: To evaluate clinical data, aneurysm characteristics, and therapeutic results in a series of patients younger than 19 years of age with intracranial aneurysms. METHOD: A retrospective cross-sectional observational study design analyzed medical records and imaging studies. Variables included age, sex, clinical presentation, comorbidities, aneurysmal characteristics, treatment modality, and clinical outcomes. RESULTS: We identified 15 intracranial aneurysms in 11 patients (6 male), with ages ranging from 3 months to 15 years (mean age 5.2 years). Five patients had associated medical conditions, and hemorrhage was the most frequent clinical presentation (45%). Three patients (27%) had multiple aneurysms, and seven aneurysms were fusiform or dysplastic. The internal carotid artery was the most affected site, involved in 47% of cases. Aneurysm size ranged from 2 to 60 mm (mean 16.8 mm), with giant aneurysms in 27%. Seven patients were treated with endovascular procedures, while three aneurysms were clipped. Symptomatic vasospasm requiring angioplasty occurred in two patients and led to worse outcomes. One patient died due to severe aspiration pneumonia and sepsis that precluded treatment. Good functional outcome (modified Rankin scale - mRS ≤ 2) was achieved in all treated patients (91%). CONCLUSION: The patients with aneurysms in this series were mostly male, presented mostly hemorrhagic syndromes, and mainly had internal carotid artery involvement. The outcome of treated patients was favorable, regardless of treatment modality.
Subject(s)
Endovascular Procedures , Intracranial Aneurysm , Child , Child, Preschool , Female , Humans , Male , Brazil/epidemiology , Cerebral Angiography , Cross-Sectional Studies , Endovascular Procedures/methods , Hemorrhage , Intracranial Aneurysm/diagnostic imaging , Intracranial Aneurysm/epidemiology , Intracranial Aneurysm/therapy , Retrospective Studies , Treatment Outcome , Infant , AdolescentABSTRACT
OBJECTIVES: To describe the neurocognitive profile of 458 children with congenital hypothyroidism detected by neonatal screening, followed under the same treatment protocol over 25 years. To correlate estimated full-scale IQ (FSIQ) scores with age at the start of treatment, disease severity, and maternal education. METHODS: Observational, analytical, retrospective, and longitudinal cohort study, that evaluated children detected between 1991 and 2014, who underwent at least one psychometric assessment (WPPSI- R and/or WISC-III). Estimated FSIQ scores are described and correlated with prognosis determinants. RESULTS: Median T4 at diagnosis was 2.8 µg/dL (0.0-16.5), the median age at the start of treatment was 18.5 days (3-309). Maternal education (n = 445): 2.7% of illiteracy, 59.8% with basic education. Estimated FSIQ scores were 88.0 (±11.8) in WPPSI-R (age 5.6 ± 0.5 years) and 84.1 (±13.0) in WISC-III (age 9.1 ± 1.4 years). The intellectual deficit was identified in 11.6%. Correlation between age at the start of treatment and estimated FSIQ was found only in the WPPSI-R test (p = 0.02). Initial T4 and maternal education significantly correlated with estimated FSIQ scores in both tests, with the latter being the most important determining factor. CONCLUSIONS: In this large cohort of mainly low socioeconomic status children, most children achieved normal cognitive levels; however, a significant percentage presented with below-average estimated FSIQ scores and intellectual deficits. Maternal education was the main determining factor in cognitive level followed by hypothyroidism severity.
Subject(s)
Congenital Hypothyroidism , Infant, Newborn , Humans , Child , Child, Preschool , Congenital Hypothyroidism/diagnosis , Retrospective Studies , Longitudinal Studies , Neonatal Screening , Intelligence , Wechsler Scales , CognitionABSTRACT
A previously healthy 13 year-old boy presented with acute-onset headaches, aphasia and right-sided hemiparesis. Imaging showed cerebral ischemic infarction due to bilateral carotid occlusion, and investigation for stroke etiology diagnosed homocystinuria. Homocystinuria is an autosomal recessive condition that affects the metabolism of the amino acid methionine due to an enzyme deficiency. This disorder involves multiple organs systems, and complications include thromboembolic events, ectopia lentis, mental retardation, and skeletal abnormalities. The early diagnosis and treatment of hyperhomocystinemia can significantly improve outcomes. Therefore, metabolic screening for homocystinuria is strongly recommended for children presenting with stroke.
Subject(s)
Homocystinuria , Stroke , Thromboembolism , Thrombosis , Male , Child , Humans , Adolescent , Homocystinuria/complications , Homocystinuria/diagnosis , Homocystinuria/therapy , Treatment Outcome , Stroke/diagnostic imaging , Stroke/etiology , Stroke/therapy , Thrombosis/complicationsABSTRACT
Abstract Objectives: To describe the neurocognitive profile of 458 children with congenital hypothyroidism detected by neonatal screening, followed under the same treatment protocol over 25 years. To correlate estimated full-scale IQ (FSIQ) scores with age at the start of treatment, disease severity, and maternal education. Methods: Observational, analytical, retrospective, and longitudinal cohort study, that evaluated children detected between 1991 and 2014, who underwent at least one psychometric assessment (WPPSI- R and/or WISC-III). Estimated FSIQ scores are described and correlated with prognosis determinants. Results: Median T4 at diagnosis was 2.8 µg/dL (0.0-16.5), the median age at the start of treatment was 18.5 days (3-309). Maternal education (n = 445): 2.7% of illiteracy, 59.8% with basic education. Estimated FSIQ scores were 88.0 (±11.8) in WPPSI-R (age 5.6 ± 0.5 years) and 84.1 (±13.0) in WISC-III (age 9.1 ± 1.4 years). The intellectual deficit was identified in 11.6%. Correlation between age at the start of treatment and estimated FSIQ was found only in the WPPSI-R test (p = 0.02). Initial T4 and maternal education significantly correlated with estimated FSIQ scores in both tests, with the latter being the most important determining factor. Conclusions: In this large cohort of mainly low socioeconomic status children, most children achieved normal cognitive levels; however, a significant percentage presented with below-average estimated FSIQ scores and intellectual deficits. Maternal education was the main determining factor in cognitive level followed by hypothyroidism severity.
Subject(s)
Hemangioendothelioma , Kasabach-Merritt Syndrome , Sarcoma, Kaposi , Humans , Infant , Kasabach-Merritt Syndrome/diagnostic imaging , Kasabach-Merritt Syndrome/surgery , Hemangioendothelioma/diagnostic imaging , Hemangioendothelioma/surgery , Sarcoma, Kaposi/diagnostic imaging , Sarcoma, Kaposi/surgeryABSTRACT
Growth hormone (GH) has been used for over 35 years, and its safety and efficacy has been studied extensively. Experimental studies showing the permissive role of GH/insulin-like growth factor 1 (IGF-I) in carcinogenesis have raised concerns regarding the safety of GH replacement in children and adults who have received treatment for cancer and those with intracranial and pituitary tumours. A consensus statement was produced to guide decision-making on GH replacement in children and adult survivors of cancer, in those treated for intracranial and pituitary tumours and in patients with increased cancer risk. With the support of the European Society of Endocrinology, the Growth Hormone Research Society convened a Workshop, where 55 international key opinion leaders representing 10 professional societies were invited to participate. This consensus statement utilized: (1) a critical review paper produced before the Workshop, (2) five plenary talks, (3) evidence-based comments from four breakout groups, and (4) discussions during report-back sessions. Current evidence reviewed from the proceedings from the Workshop does not support an association between GH replacement and primary tumour or cancer recurrence. The effect of GH replacement on secondary neoplasia risk is minor compared to host- and tumour treatment-related factors. There is no evidence for an association between GH replacement and increased mortality from cancer amongst GH-deficient childhood cancer survivors. Patients with pituitary tumour or craniopharyngioma remnants receiving GH replacement do not need to be treated or monitored differently than those not receiving GH. GH replacement might be considered in GH-deficient adult cancer survivors in remission after careful individual risk/benefit analysis. In children with cancer predisposition syndromes, GH treatment is generally contraindicated but may be considered cautiously in select patients.
Subject(s)
Human Growth Hormone , Pituitary Neoplasms , Adult , Child , Growth Hormone , Human Growth Hormone/adverse effects , Humans , Insulin-Like Growth Factor I , Neoplasm Recurrence, Local/chemically induced , Pituitary Neoplasms/drug therapy , SurvivorsABSTRACT
Moyamoya disease is a cerebral angiopathy characterized by bilateral progressive narrowing of internal carotid arteries, developing collateral vessels with the aspect of a "puff of smoke." The presentation with movement disorders is extremely rare. We present the case of an 11-year-old girl with low academic performance who complained of involuntary movements starting in her right hand. Neurologic examination showed preserved muscle strength and right hemichoreoathetosis. Neuroimaging showed left hemisphere hypoperfusion and a hypertrophic distal lenticulostriate artery. The symptoms were controlled with medications, and cerebral revascularization was performed. Although movement disorders are usually related to cerebral lesions or hypoperfusion, cases without these etiologies were described. Thus the finding of asymmetric lenticulostriate arteries improving after asymmetry reduction suggests a possible role in the pathogenesis. Further studies are needed to fully elucidate the mechanisms between moyamoya disease and movement disorders.
Subject(s)
Dyskinesias/diagnostic imaging , Dyskinesias/surgery , Moyamoya Disease/diagnostic imaging , Moyamoya Disease/surgery , Child , Dyskinesias/etiology , Female , Humans , Movement Disorders/diagnostic imaging , Movement Disorders/etiology , Movement Disorders/surgery , Moyamoya Disease/complicationsABSTRACT
Individuals surviving cancer and brain tumors may experience growth hormone (GH) deficiency as a result of tumor growth, surgical resection and/or radiotherapy involving the hypothalamic-pituitary region. Given the pro-mitogenic and anti-apoptotic properties of GH and insulin-like growth factor-I, the safety of GH replacement in this population has raised hypothetical safety concerns that have been debated for decades. Data from multicenter studies with extended follow-up have generally not found significant associations between GH replacement and cancer recurrence or mortality from cancer among childhood cancer survivors. Potential associations with secondary neoplasms, especially solid tumors, have been reported, although this risk appears to decline with longer follow-up. Data from survivors of pediatric or adult cancers who are treated with GH during adulthood are scarce, and the risk versus benefit profile of GH replacement of this population remains unclear. Studies pertaining to the safety of GH replacement in individuals treated for nonmalignant brain tumors, including craniopharyngioma and non-functioning pituitary adenoma, have generally been reassuring with regards to the risk of tumor recurrence. The present review offers a summary of the most current medical literature regarding GH treatment of patients who have survived cancer and brain tumors, with the emphasis on areas where active research is required and where consensus on clinical practice is lacking.
Subject(s)
Brain Neoplasms , Dwarfism, Pituitary , Human Growth Hormone , Pituitary Neoplasms , Adult , Brain Neoplasms/drug therapy , Child , Growth Hormone , HumansABSTRACT
Morquio disease or mucopolysaccharidosis type IVA (Online Mendelian Inheritance in Man No. 253000) is a rare autosomal recessive disease classified in the group of metabolism inborn errors. The glycosaminoglycans accumulate in chondrocytes, which disturbs bone growth and leads to skeletal manifestations, such as skeletal dysplasia and a short stature. In addition, the disproportionate growth of the trachea can lead to airway insufficiency. We report the case of a 27-year-old man with dwarfism due to Morquio disease, which had resulted in quadriparesis, hyperreflexia, and dyspnea, requiring a "look up to the sky" compensatory position. Imaging studies of the neck showed tracheal tortuosity, spinal stenosis, myelopathy, and neurogenic arthropathy (Charcot joint). The patient was treated with occipital-cervical-thoracic instrumentation. However, postoperative tracheal correction was required. Considering the wide spectrum of clinical features in those with mucopolysaccharidosis type IVA, individualized multidisciplinary treatment is recommended.
Subject(s)
Cervical Vertebrae/abnormalities , Mucopolysaccharidosis IV/complications , Adult , Humans , MaleSubject(s)
Arteriovenous Fistula , Klippel-Trenaunay-Weber Syndrome , Sturge-Weber Syndrome , Arteriovenous Fistula/complications , Arteriovenous Fistula/diagnostic imaging , Arteriovenous Fistula/surgery , Humans , Spinal Cord , Spine , Sturge-Weber Syndrome/complications , Sturge-Weber Syndrome/diagnostic imagingABSTRACT
BACKGROUND: Aneurysms in the pediatric population are uncommon, requiring a high index of suspicion for diagnosis. We report a case of a child with head trauma and delayed diagnosed cerebral aneurysm. METHODS: A 2-year-old girl was brought to the emergency room with seizures. Head imaging showed acute intraventricular hemorrhage, hydrocephalus, and paraclinoid aneurysm of the right internal carotid artery. She had been hospitalized elsewhere 1 month prior for traumatic brain injury after falling to the ground with subarachnoid and intraventricular hemorrhage and good recovery, but without diagnosis of aneurysm. RESULTS: The child was treated with aneurysm embolization and ventriculoperitoneal shunt, being discharged asymptomatic. CONCLUSION: Most primary intraventricular hemorrhage in pediatric population has identifiable etiology. A high rate of clinical suspicion, associated with a low threshold for vascular neuroimaging studies for children with spontaneous or atypical intracranial hemorrhage allow accurate diagnosis, appropriate treatment, and improved outcome.
Subject(s)
Aneurysm, Ruptured , Intracranial Aneurysm , Pediatrics , Subarachnoid Hemorrhage , Carotid Artery, Internal , Cerebral Angiography , Child , Child, Preschool , Delayed Diagnosis , Diagnostic Errors , Female , Humans , Intracranial Aneurysm/diagnosis , Intracranial Aneurysm/diagnostic imagingABSTRACT
Objectives Adequate treatment of congenital hypothyroidism (CH) is required for normal growth and sexual development. To evaluate pubertal development in patients with permanent CH detected by a statewide Neonatal Screening Program of Paraná and, secondly, to evaluate adult height (AH) in a subgroup of patients. Methods Clinical, laboratory, and auxological data obtained from medical records of 174 patients (123 girls). Results Median chronological age (CA) at treatment initiation was 24 days, and mean initial levothyroxine dose was 11.7 ± 1.9 µg/kg/day; mean CA at puberty onset was 11.5 ± 1.3 years (boys) and 9.7 ± 1.2 years (girls); mean CA in girls who underwent menarche (n=81) was 12.1 ± 1.1 years. Thyroid-stimulating hormone (TSH) values above the normal range were observed in 36.4% of the boys and 32.7% of the girls on puberty onset, and in 44.6% around menarche. Among 15 boys and 66 girls who had reached the AH, the median height z-score value was significantly greater than the target height (TH) z-score value in boys (p=0.01) and in girls (p<0.001). Boys with normal TSH values at puberty onset had greater mean AH z-score compared with boys with TSH values above the normal range (p=0.04). Conclusions In this group, pubertal development in girls with CH was not different from that reported in healthy girls in the general Brazilian population. Boys with higher TSH at puberty onset may have an increased risk of not reaching their potential height compared with those with normal TSH during this period. In a subgroup who attained AH, the median AH z-score was greater than the median TH z-score.
Subject(s)
Adolescent Development/physiology , Congenital Hypothyroidism/physiopathology , Puberty/physiology , Adolescent , Adolescent Development/drug effects , Adult , Body Height/drug effects , Body Height/physiology , Brazil/epidemiology , Child , Congenital Hypothyroidism/diagnosis , Congenital Hypothyroidism/drug therapy , Congenital Hypothyroidism/epidemiology , Female , Humans , Infant, Newborn , Longitudinal Studies , Male , Neonatal Screening , Puberty/drug effects , Reference Values , Thyroxine/therapeutic useABSTRACT
Neonates with vein of Galen aneurysmal malformation (VGAM) presenting with severe cardiac failure and pulmonary hypertension represent a challenge for endovascular therapy.When early treatment is required, the small femoral arteries in this population are usually difficult to cannulate. Alternatively, the umbilical vessels offer a natural pathway to reach the lesion. Therefore, prenatal diagnosis of VGAM allows for delivery planning, perinatal management, and embolization through umbilical approach, thus leading to better outcomes.
Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Prenatal Diagnosis , Umbilical Cord , Vein of Galen Malformations/complications , Vein of Galen Malformations/therapy , Arteriovenous Malformations/therapy , Vein of Galen Malformations/diagnostic imaging , Endovascular Procedures/methods , Fetal Diseases/diagnostic imagingABSTRACT
OBJECTIVES: To discuss the etiology and growth consequences of small size at birth and the indications, effects, and safety of biosynthetic growth hormone therapy in children born small for gestational age. SOURCE OF DATA: A comprehensive and non-systematic search was carried out in the PubMed, LILACS, and SciELO databases from 1980 to the present day, using the terms "small for gestational age," "intrauterine growth restriction," and "growth hormone". The publications were critically selected by the authors. DATA SYNTHESIS: Although the majority of children born small for gestational age show spontaneous catch-up growth during the first two years of life, some of them remain with short stature during childhood, with high risk of short stature in adult life. Treatment with growth hormone might be indicated, preferably after 2-4 years of age, in those small for gestational age children who remain short, without catch-up growth. Treatment aims to increase growth velocity and to reach a normal height during childhood and an adult height within target height. Response to growth hormone treatment is variable, with better growth response during the pre-pubertal period. CONCLUSIONS: Treatment with growth hormone in short children born small for gestational age is safe and effective to improve adult height. Efforts should be done to identify the etiology of small size at birth before treatment.
Subject(s)
Child Development/drug effects , Growth Disorders/drug therapy , Growth Hormone/therapeutic use , Infant, Small for Gestational Age/growth & development , Female , Humans , Infant, NewbornABSTRACT
Abstract Objectives: To discuss the etiology and growth consequences of small size at birth and the indications, effects, and safety of biosynthetic growth hormone therapy in children born small for gestational age. Source of data: A comprehensive and non-systematic search was carried out in the PubMed, LILACS, and SciELO databases from 1980 to the present day, using the terms "small for gestational age," "intrauterine growth restriction," and "growth hormone". The publications were critically selected by the authors. Data synthesis: Although the majority of children born small for gestational age show spontaneous catch-up growth during the first two years of life, some of them remain with short stature during childhood, with high risk of short stature in adult life. Treatment with growth hormone might be indicated, preferably after 2-4 years of age, in those small for gestational age children who remain short, without catch-up growth. Treatment aims to increase growth velocity and to reach a normal height during childhood and an adult height within target height. Response to growth hormone treatment is variable, with better growth response during the pre-pubertal period. Conclusions: Treatment with growth hormone in short children born small for gestational age is safe and effective to improve adult height. Efforts should be done to identify the etiology of small size at birth before treatment.
Resumo Objetivos: Discutir a etiologia e as consequências para o crescimento e as indicações, os efeitos e a segurança da terapia com hormônio de crescimento biossintético em crianças pequenas para idade gestacional. Fonte dos dados: Uma busca abrangente e não sistemática foi feita nas bases de dados PubMed, LILACS e SciELO de 1980 até a presente data, com os termos "small for gestational age" (pequeno para a idade gestacional), "intrauterine growth restriction" (restrição de crescimento intrauterino) e "growth hormone" (hormônio do crescimento). As publicações foram selecionadas criticamente pelos autores. Síntese dos dados: Embora a maioria das crianças nascidas pequenas para idade gestacional apresente recuperação espontânea do crescimento durante os dois primeiros anos de vida, algumas delas permanecem com baixa estatura durante a infância, com alto risco de baixa estatura na vida adulta. O tratamento com hormônio de crescimento pode ser indicado, preferencialmente após os dois aos quatro anos, naquelas crianças sem recuperação espontânea do crescimento e com baixa estatura. Seus objetivos são aumentar a velocidade de crescimento e atingir uma altura normal durante a infância e uma altura adulta dentro da altura-alvo. A resposta ao tratamento com hormônio de crescimento é variável, com melhor resultado se iniciado durante o período pré-puberal. Conclusões: O tratamento com hormônio de crescimento em crianças baixas nascidas pequenas para idade gestacional é seguro e eficaz para melhorar a estatura adulta. Esforços devem ser feitos para identificar a etiologia do nascimento pequenas para idade gestacional antes do tratamento.