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OBJECTIVE: To evaluate the effect of initial insulin dosage on glycemic control in the first 48 hours of subcutaneous regular insulin therapy after resolution of diabetic ketoacidosis (DKA). METHODS: Records of patients with DKA hospitalized in the past 3 years [n=76, median age=10.0 (6.0-12.0) years, Male/Female: 44/32] were reviewed. The patients were designated into two groups according to distribution of starting doses of subcutaneous insulin. Group 1 (n=28) received a median dose of 1.45 U/kg/day (1.41-1.5) and group 2 (n=48) a median dose of 0.96 U/kg/day (0.89-1). Clinical and laboratory data were analyzed. RESULTS: Median, minimum, and maximum blood glucose levels of Group 1 in the first 48 hours of treatment were significantly lower than that of Group 2 [213 (171-242) vs. 255 (222-316), p=<0.001; 102 (85-151) vs. 129 (105-199), p=0.004; and 335 (290-365) vs. 375 (341-438), p=0.001, respectively]. The number of patients who experienced hypoglycemia (<70 mg/dL) were similar [Group 1, 5 (17.9%) vs. Group 2, 4 (8.3%), p=0.276] and none had severe hypoglycemia. In Group 1, the ratio of blood glucose levels within the target range (100-200 mg/dL) were higher (37.5% vs. 12.5%) and the number of results >200 mg/dL were lower (50% vs. 81.3%) compared to Group 2 (p=0.001 and p<0.001, respectively). CONCLUSION: After resolution of DKA, a higher initial dose of 1.4-1.5 U/kg/day regular insulin is associated with better glycemic control in children and adolescents without an increase in risk of hypoglycemia.
Assuntos
Cetoacidose Diabética/tratamento farmacológico , Hospitalização/estatística & dados numéricos , Insulina/uso terapêutico , Adolescente , Glicemia/metabolismo , Criança , Pré-Escolar , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/complicações , Cetoacidose Diabética/sangue , Cetoacidose Diabética/complicações , Relação Dose-Resposta a Droga , Feminino , Humanos , Hipoglicemia/sangue , Hipoglicemia/diagnóstico , Hipoglicemiantes/administração & dosagem , Hipoglicemiantes/uso terapêutico , Lactente , Injeções Subcutâneas , Insulina/administração & dosagem , Masculino , Fatores de RiscoRESUMO
INTRODUCTION: Idiopathic Pulmonary Hemosiderosis (IPH) is a rare cause of alveolar hemorrhage, which is seen primarily in childhood. Celiac disease is defined as a chronic, immune-mediated enteropathy of the small intestine, caused by exposure to dietary gluten in genetically pre-disposed individuals. Association of IPH and celiac disease is known as Lane Hamilton syndrome. There are limited number of case reports of this syndrome in literature. CASE PRESENTATION: Although there were no growth and developmental delay and gastrointestinal symptoms like chronic diarrhea, chronic constipation, vomiting, abdominal bloating and pain in the two patients with IPH, they were diagnosed with Lane Hamilton Syndrome. After initiation of gluten-free diet, their IPH symptoms disappeared and hemoglobin levels were observed to return to normal. CONCLUSIONS: Even if there were no gastrointestinal symptoms in a patient with IPH, celiac disease should be investigated. These patients may benefit from gluten free diet and IPH symptoms may disappear.
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BACKGROUND: The sarcoglycan alpha gene, also known as the adhalin gene, is located on chromosome 17q21; mutations in this gene are associated with limb-girdle muscular dystrophy type 2D. We describe two Turkish siblings with findings consistent with limb-girdle muscular dystrophy type 2D. The evaluation excluded a dystrophinopathy, which is the most common form of muscular dystrophy. PATIENTS: Both siblings had very high levels of creatinine phosphokinase and negative molecular tests for deletions and duplications of the dystrophin gene. The older boy presented at 8 years of age with an inability to climb steps and an abnormal gait. His younger brother was 5 years old and had similar symptoms. The muscle biopsy evaluation was performed only in the older brother. RESULTS: The muscle biopsy showed dystrophic features as well as a deficiency in the expression of two different glycoproteins: the alpha sarcoglycan and the gamma sarcoglycan. Sarcolemmal expressions of dystrophin and other sarcoglycans (beta and delta) were diffusely present. DNA analysis demonstrated the presence of previously unknown homozygous mutations [c.226 C > T (p.L76 F)] in exon 3 in the sarcoglycan alpha genes of both siblings. Similar heterozygous point mutations at the same locus were found in both parents, but the genes of beta, delta, and gamma sarcoglycan were normal in the remaining family members. CONCLUSIONS: We describe two siblings with limb-girdle muscular dystrophy type 2D with a novel missense mutation. These patients illustrate that the differential diagnosis of muscular dystrophies is impossible with clinical findings alone. Therefore, a muscle biopsy and DNA analysis remain essential methods for diagnosis of muscle diseases.
Assuntos
Mutação de Sentido Incorreto , Sarcoglicanopatias/genética , Sarcoglicanopatias/fisiopatologia , Sarcoglicanas/deficiência , Sarcoglicanas/genética , Sequência de Aminoácidos , Sequência de Bases , Criança , Pré-Escolar , Análise Mutacional de DNA , Diagnóstico Diferencial , Pai , Humanos , Masculino , Dados de Sequência Molecular , Mães , Músculo Esquelético/patologia , Sarcoglicanopatias/diagnóstico , Sarcoglicanopatias/patologia , Irmãos , TurquiaRESUMO
Neurocardiogenic syncope is the most frequent cause of fainting in childhood and adolescence. Although head-up tilt table testing (HUTT) was previously considered as the reference standard in the diagnosis of syncope, in children with a typical history of reflex syncope, normal physical examination, and electrocardiogram (ECG) are sufficient to cease investigation; however, according to recent reports, TT is indicated in patients in whom this diagnosis cannot be proven by initial evaluation. The hypothesis of this study is that P-wave dispersion (PWD) can be a useful electrocardiographic predictor of cardiac autonomic dysfunction in children with vasovagal syncope (VVS). The study was designed prospectively and included 50 children with positive and 50 children with negative HUTT who presented with at least two previous unexplained episodes of syncope as well as 50 sex- and age-matched healthy children as the control group. All standard 12-lead ECGs were obtained in patients and controls, and the difference between maximum and minimum durations of the P wave was defined as the PWD. A total of 100 children with VVS and 50 healthy controls were evaluated for the study. The P maximum values of HUTT-positive (HUTT[+]) patients were significantly greater than those in the HUTT-negative (HUTT[-]) and control groups(p < 0.05). In addition, mean PWD values were 50.2 ± 18.5, 39.6 ± 11.2 and 32.0 ± 11.2 ms in the HUTT(+), HUTT(-), and control groups, respectively. The difference between groups was statistically significant (p < 0.05). We suggest that PWD is an early sign of cardiac autonomic dysfunction in children with neurally mediated syncope and can be used as a noninvasive electrocardiographic test to evaluate orthostatic intolerance syndromes.
Assuntos
Sistema Nervoso Autônomo/fisiopatologia , Eletrocardiografia , Átrios do Coração/inervação , Frequência Cardíaca/fisiologia , Síncope Vasovagal/diagnóstico , Criança , Feminino , Seguimentos , Átrios do Coração/fisiopatologia , Humanos , Masculino , Exame Físico , Prognóstico , Estudos Prospectivos , Síncope Vasovagal/fisiopatologia , Teste da Mesa InclinadaRESUMO
La parálisis de Bell es la causa más común de parálisis del nervio facial unilateral en la infancia. Aunque el diagnóstico depende de la exclusión de otras causas menos comunes, como infecciosas, traumáticas, asociada a tumores o a hipertensión, los pediatras tienden a diagnosticar la parálisis idiopática de Bell siempre que un niño presenta parálisis facial. En este informe se presenta una niña de ocho años con parálisis facial recurrente y alternante como primer síntoma de hipertensión arterial sistémica. Recibió tratamiento con esteroides sin previa medición de la tensión arterial, lo cual pudo agravar su cuadro. Debe tenerse en cuenta esta asociación y medir siempre la tensión arterial antes de considerar la terapia con esteroides para la parálisis de Bell. Deben tenerse en cuenta las causas menos comunes de parálisis facial adquirida, especialmente cuando se presentan episodios recurrentes y alternantes.
Bell's palsy is the most common cause of acquired unilateral facial nerve palsy in childhood. Although the diagnosis depends on the exclusion of less common causes such as infectious, traumatic, malignancy associated and hypertension associated etiologies, pediatricians tend to diagnose idiopatic Bell's palsy whenever a child admits with acquired facial weakness. In this report, we present an eight year old girl, presenting with recurrent and alternant facial palsy as the frst symptom of systemic hypertension. She received steroid treatment without measuring blood pressure and this could worsen hypertension. Clinicians should be aware of this association and not neglect to measure the blood pressure before considering steroid therapy for Bell's palsy. In addition, the less common causes of acquired facial palsy should be kept in mind, especially when recurrent and alternant courses occur.
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Criança , Feminino , Humanos , Paralisia Facial/tratamento farmacológico , Paralisia Facial/etiologia , Hipertensão/complicações , Prednisona/uso terapêutico , Paralisia de Bell/diagnóstico , Diagnóstico Diferencial , Paralisia Facial/diagnósticoRESUMO
Bell's palsy is the most common cause of acquired unilateral facial nerve palsy in childhood. Although the diagnosis depends on the exclusion of less common causes such as infectious, traumatic, malignancy associated and hypertension associated etiologies, pediatricians tend to diagnose idiopatic Bell's palsy whenever a child admits with acquired facial weakness. In this report, we present an eight year old girl, presenting with recurrent and alternant facial palsy as the first symptom of systemic hypertension. She received steroid treatment without measuring blood pressure and this could worsen hypertension. Clinicians should be aware of this association and not neglect to measure the blood pressure before considering steroid therapy for Bell's palsy. In addition, the less common causes of acquired facial palsy should be kept in mind, especially when recurrent and alternant courses occur.
Assuntos
Paralisia Facial/tratamento farmacológico , Paralisia Facial/etiologia , Hipertensão/complicações , Prednisona/uso terapêutico , Paralisia de Bell/diagnóstico , Criança , Diagnóstico Diferencial , Paralisia Facial/diagnóstico , Feminino , HumanosRESUMO
BACKGROUND: Recurrent peripheral facial palsy is uncommon in children. It mostly occurs as an idiopathic disorder and to a lesser extent in the setting of some infectious, genetic, or systemic disorders. However, its association with familial Mediterranean fever has not been reported before. PATIENT: We present a 14-year-old girl who experienced three episodes of right-sided peripheral facial palsy during a 9-month interval. She had a diagnosis of familial Mediterranean fever (homozygous with M694V mutation) and she had been receiving colchicine for 8 years. Recurrent peripheral facial palsy could be a neurological manifestation of vasculitis in familial Mediterranean fever. CONCLUSION: Recurrent peripheral facial palsy may be a manifestation of familial Mediterranean fever in children.
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Paralisia Facial/diagnóstico , Paralisia Facial/etiologia , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/diagnóstico , Adolescente , Feminino , Humanos , RecidivaRESUMO
Toxocariasis is an infection caused by the ingestion of larvae of the dog Toxocara canis or the cat Toxocara cati. A 2.5 year old boy was admitted to our clinics with fever, abdominal pain and loss of appetite. His medical history included geophagia (pica) and amebiasis infection. On admission, the physical examination revealed hepatomegaly and pallor. There was marked eosinophilia with leukocytosis, anemia, hypergammaglobulinemia and elevated serum Ig E titers. Toxocariasis was confirmed by anti-Toxocara IgG and Western blot. After 7 days of albendazole therapy, leukocytosis persisted and a second course of albendazole combined with prednisolone was administered. After 3 weeks, the eosinophil count had decreased and the patient showed resolution of hepatomegaly, but Toxocara serology remained elevated.
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Eosinofilia/diagnóstico , Larva Migrans Visceral/diagnóstico , Albendazol/uso terapêutico , Antinematódeos/uso terapêutico , Pré-Escolar , Eosinofilia/etiologia , Hepatomegalia , Humanos , Larva Migrans Visceral/tratamento farmacológico , Larva Migrans Visceral/patologia , Leucocitose , Masculino , Prednisolona/uso terapêuticoRESUMO
Brucella infections have a wide spectrum of symptoms especially in children, making the diagnosis a complicated process. The gold standard for the final diagnosis for brucellosis is to identify the Brucella spp. isolated from blood or bone marrow cultures. The main purpose of this work was to evaluate the factors affecting the isolation of Brucella spp. from blood cultures. In our study, the ratio of fever, presence of hepatomegaly, and splenomegaly were found to be higher in the bacteremic group. In addition, C-reactive protein levels and liver function enzymes were found to be higher in the bacteremic group. In our opinion, while evaluating the febrile child with suspected Brucella infection, we highly recommend sampling blood cultures regardless of the history of previous antimicrobial therapy and duration of the symptoms.
Assuntos
Bacteriemia/diagnóstico , Brucella/isolamento & purificação , Brucelose/diagnóstico , Adolescente , Alanina Transaminase/sangue , Aspartato Aminotransferases/sangue , Bacteriemia/epidemiologia , Bacteriemia/microbiologia , Coleta de Amostras Sanguíneas , Medula Óssea/microbiologia , Brucelose/epidemiologia , Brucelose/microbiologia , Proteína C-Reativa/análise , Criança , Pré-Escolar , Febre , Hemoglobinas/análise , Hepatomegalia , Humanos , Lactente , Masculino , Estudos Retrospectivos , Esplenomegalia , Turquia/epidemiologiaRESUMO
BACKGROUND & OBJECTIVES: It has been hypothesized that abnormal levels of serum nerve growth factor (NGF) may represent a serological marker for autistic children who may develop cognitive impairment, regression and finally epilepsy. The objective of this preliminary study was to measure serum NGF concentrations of autistic children and compare these levels with those of healthy children. METHODS: Consecutive children who were referred to the Paediatric Neurology and Child Psychiatry Policlinics of Dr. Behçet Uz Child Disease and Pediatric Surgery Training and Research Hospital, Turkey between February and September 2008 were included in the study. Serum samples were analyzed for NGF levels using ChemiKine NGF Sandwich ELISA Kit. Comparisons between the study and the control groups were made using student's t test and Chi-square test. RESULTS: Forty-nine autistic children and an equal number of healthy children (control group) were included in the study. No significant difference was found between the study and the control groups in terms of children's age, while number of boys was significantly higher (P<0.05) in the study group. Average serum NGF concentrations were 46.94 ± 51.40 and 32.94 ± 12.48 pg/ml in the study and control group, respectively. Serum NGF concentrations were significantly higher (P<0.05) in the study group compared with the control group. INTERPRETATION & CONCLUSIONS: Our preliminary findings show that enhanced serum NGF concentration may be used as a potential diagnostic tool in autism, however, further studies including a large number of patients are required to confirm the findings.
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Transtorno Autístico/sangue , Fator de Crescimento Neural/sangue , Transtorno Autístico/patologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , População , TurquiaRESUMO
Subacute sclerosing panencephalitis (SSPE) caused by persistent defective measles virus strains, is a progressive neurological disorder of children and adolescents. The aim of this letter was to share the data from SSPE-suspected cases who were definitely diagnosed by the detection of increased antibody index in serum and cerebrospinal fluid (CSF) samples. A total of 11 patients (mean age: 14.3 years) with suspected SSPE between February 2006 to August 2008, were included in the study. Simultaneously obtained serum and CSF samples from patients were analyzed in terms of albumin, total IgG and measles-specific IgG levels (Measles Virus IgG ELISA for CSF Diagnostics, Euroimmun, Germany). The value of CSQrel (relative CSF/serum quotient) ≥ 1.5 was accepted indicative for intrathecal measles antibody synthesis. Seven (63.6%) of the 11 patients' diagnosis were confirmed with the demonstration of elevated CSF/serum indices (CSQrel range: 2.3-36.9; mean: 12.9). Mean age of those seven cases was 12.3 years (age range: 7-21) and four of them were male. The history of patients with high antibody indices indicated that three of four patients who had measles infection had not been vaccinated against measles. These three unvaccinated patients had measles infection at 3rd, 8th and 30th months of age, respectively, and the period of SSPE development were 15, 6 and 4.5 years, respectively. With this letter we would like to emphasize once more that effective measles vaccination is the only way for the prevention of measles and SSPE and the demonstration of increased measles antibody index in simultaneously obtained serum and CSF samples is crucial for the diagnosis of SSPE.
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Anticorpos Antivirais/sangue , Anticorpos Antivirais/líquido cefalorraquidiano , Vírus SSPE/imunologia , Panencefalite Esclerosante Subaguda/diagnóstico , Adolescente , Criança , Feminino , Humanos , Masculino , Vacina contra Sarampo , Panencefalite Esclerosante Subaguda/sangue , Panencefalite Esclerosante Subaguda/líquido cefalorraquidiano , Panencefalite Esclerosante Subaguda/prevenção & controle , Adulto JovemRESUMO
Brain-derived factor (BDNF) is a member of neurotrophin family and is localized and upregulated in areas implicated in epileptogenesis. Several lines of evidence make the BDNF gene a plausible candidate gene for predisposition to epilepsy. In this study, we tested that BDNF might be involved in the etiology of childhood PE. To assess whether BDNF gene C270T polimorphism could be implicated in vulnerability to PE, we conducted a case-control association analysis (112 partial epileptic and 100 controls) in Turkish children. Epileptic children were divided into two groups: 1--idiopathic (n = 85) and 2--symptomathic epilepsy (n = 27). There was no significant difference in genotypic distribution and allelic frequencies of the BDNF gene C270T polimorphism between the PE and control groups. However, the BDNF gene TT genotype was more frequently seen in the epileptic children (15 versus 11 patients, resp.). Interestingly, in the epilepsy group, both two children with TT genotype have posttraumatic epilepsy. The data indicate a possible association with the 270T genotype of the BDNF gene with a posttraumatic epilepsy. To draw any conclusion, further studies using larger sample sizes should be carried out in various ethnic populations in childhood epilepsies.
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Fator Neurotrófico Derivado do Encéfalo/genética , Epilepsias Parciais/genética , Polimorfismo Genético/genética , Adolescente , Criança , Feminino , Frequência do Gene/genética , Predisposição Genética para Doença , Genótipo , Humanos , MasculinoRESUMO
Steroid-induced psychosis is one of the most serious adverse effects of steroid therapy but is a little-known complication in children. There is no clear mechanism model for steroid-induced behavioral disturbance, but it may be related with dose or level of free fraction of steroids. Our case is a 12-year-old boy diagnosed with steroid-induced psychosis and treated with risperidone, an atypical antipsychotic, due to distinct psychotic symptoms. Pediatricians should be aware of this rare complication when administering corticosteroids for various medical illnesses.
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Corticosteroides/efeitos adversos , Antipsicóticos/uso terapêutico , Psicoses Induzidas por Substâncias , Risperidona/uso terapêutico , Criança , Humanos , Masculino , TurquiaRESUMO
Several enzyme-linked immunosorbent assays (ELISAs) based on mycobacterial antigens have been tried for the rapid diagnosis of tuberculosis (TB). In this study, the value of the 16 and 38-kDa mycobacterial antigens in the diagnosis of TB was investigated in pediatric patients in Izmir, Turkey in whom they were found using clinical and/or bacteriological methods. A commercial ELISA kit was used for measuring IgG against 38 and 16-kDa recombinant antigens. The humoral immune response was analyzed in a group of 32 TB patients (24 pulmonary, 3 lymphadenitis and 2 pleuritis, 2 meningitis and a disseminated TB) and in control groups consisting of 20 healthy children and 20 pulmonary diseases other than TB cases. The sensitivity, specificity, positive predictive value, and the negative predictive value of the test were found to be 25%, 90%, 66.7%, and 60%, respectively, in the TB cases. The ELISA test shows very good specificity, but low level of sensitivity and negative predict value. It was thought that it might be used in combination with other methods to increase diagnostic accuracy, especially for culture-negative TB pediatric cases, which are difficult to diagnose.
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Antígenos de Bactérias/imunologia , Imunoglobulina G/sangue , Lipoproteínas/imunologia , Tuberculose Pulmonar/diagnóstico , Estudos de Casos e Controles , Criança , Pré-Escolar , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Lactente , Masculino , Kit de Reagentes para Diagnóstico , Sensibilidade e Especificidade , Testes Sorológicos , Tuberculose Pulmonar/imunologiaRESUMO
Frequent migraine headaches can have a significant impact on disability, prompting the need for early recognition and treatment. The objective of this study is to compare the efficacy of topiramate and sodium valproate for the prevention of pediatric migraine, retrospectively. Mean monthly migraine frequency, intensity, and duration in the 28 patients treated with topiramate decreased from 15.3 +/- 10.1 to 4.4 +/- 5.5 episode, from 6.8 +/- 1 to 3.2 +/- 1, and from 10.2 +/- 9.4 to 2.4 +/- 3.1 hours, respectively. Headache disability improved with a reduction of Pediatric Migraine Disability Assessment score from 36 +/- 29.5 to 4.6 +/- 6.5 (P < .05). Similarly, mean monthly headache frequency, headache intensity, headache duration, and Pediatric Migraine Disability Assessment score in the 20 patients treated with sodium valproate decreased from 20.1 +/- 10.2 to 6.6 +/- 8.6, from 7.1 +/- 1 to 3.4 +/- 2.1, from 7 +/- 12 to 1.4 +/- 2.5 hours, and from 20.5 +/- 16.1 to 5.5 +/- 9.2, respectively (P < .05). In conclusion, valproate and topiramate seem to be able to manage successfully childhood migraine without substantial differences in efficacy.
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Anticonvulsivantes/uso terapêutico , Frutose/análogos & derivados , Transtornos de Enxaqueca/tratamento farmacológico , Pediatria , Ácido Valproico/uso terapêutico , Adolescente , Criança , Avaliação da Deficiência , Método Duplo-Cego , Feminino , Seguimentos , Frutose/uso terapêutico , Humanos , Masculino , Topiramato , Resultado do TratamentoRESUMO
Malnutrition is a common problem in patients with cerebral palsy. We evaluated the effect of nutritional support on clinical findings in children with spastic quadriplegia. Feeding history, numbers of lower respiratory tract infections, and gastrointestinal and neurologic findings were evaluated via questionnaire. Weight, height, head circumference, midarm circumference, and triceps skinfold thickness were measured. Height for age, weight for age, weight for height, body mass index, and weight and height z-scores were calculated. Clinical findings and anthropometric parameters were re-evaluated after nutritional support for 6 months. Forty-five patients were enrolled. No difference was evident between the first and the last height z-scores of 31 patients who completed the follow-up. Weight, height, weight z-scores, weight for age, weight for height, body mass index, midarm circumference, and triceps skinfold thickness exhibited improvement. Moreover, a significant decrease in number of infections was evident. Frequency of seizures and Gross Motor Function Classification System status did not change. Constipation decreased significantly. Nutritional therapy revealed improvements in some anthropometric findings and a decrease in number of infections. Although there was no difference regarding motor development or seizure frequency, further studies with a longer follow-up are required.
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Paralisia Cerebral/dietoterapia , Desnutrição/dietoterapia , Apoio Nutricional , Quadriplegia/dietoterapia , Estatura , Índice de Massa Corporal , Peso Corporal , Paralisia Cerebral/complicações , Criança , Pré-Escolar , Transtornos de Deglutição/dietoterapia , Transtornos de Deglutição/etiologia , Feminino , Seguimentos , Humanos , Lactente , Masculino , Desnutrição/etiologia , Quadriplegia/complicaçõesAssuntos
Cefaleia/fisiopatologia , Neuralgia do Trigêmeo/fisiopatologia , Idade de Início , Criança , Doenças da Túnica Conjuntiva , Seguimentos , Cefaleia/diagnóstico , Cefaleia/tratamento farmacológico , Humanos , Masculino , Síndrome , Lágrimas , Resultado do Tratamento , Neuralgia do Trigêmeo/diagnóstico , Neuralgia do Trigêmeo/tratamento farmacológicoRESUMO
We report an association of proximal renal tubular dysfunction in a 50-day-old girl with glucose-galactose malabsorption who was found to have nephrocalcinosis, but no sign of nephrolithiasis. A novel homozygous nonsense mutation at 267Arg-->stop (CGA-->TGA) in the Na(+)-dependent glucose transporter (SGLT1) was found in loop 5 connecting transmembrane segments 6 and 7, indicating the complete loss of glucose transport activity. This case indicates that hypercalcaemia, nephrocalcinosis and proximal tubular dysfunction may be seen in association with glucose-galactose malabsorption and that most of these abnormalities improve with a glucose-galactose-free diet.
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Síndrome de Fanconi/complicações , Galactose/metabolismo , Transtornos do Metabolismo de Glucose/complicações , Glucose/metabolismo , Síndromes de Malabsorção/complicações , Mutação de Sentido Incorreto , Nefrocalcinose/etiologia , Transportador 1 de Glucose-Sódio/genética , Síndrome de Fanconi/genética , Feminino , Transtornos do Metabolismo de Glucose/genética , Humanos , Lactente , Síndromes de Malabsorção/genética , Nefrocalcinose/genéticaRESUMO
Canavan disease is a neurodegenerative disease with autosomal recessive inheritance. Although this disease is prevalant among Ashkenazi Jewish population, several cases have been reported from all over the world. Canavan disease is caused by a genetic mutation in aspartoacylase gene. We have identified a novel mutation, a homozygous C432+1G>A mutation, in a 10-month-old boy who has a typical Canavan phenotype (without macrocephaly) accompanied by typical brain magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS) and diffusion magnetic resonance findings. The patient's mother was found to be heterozygous for this mutation. We believe that future studies of aspartoacylase gene in various ethnic groups could lead to a better understanding of Canavan's pathophysiology and gene therapy.
Assuntos
Amidoidrolases/genética , Doença de Canavan/genética , Doença de Canavan/enzimologia , Humanos , Lactente , Masculino , Mutação , TurquiaRESUMO
OBJECTIVE: To evaluate the long-term efficacy, safety, and retention rate of topiramate (TPM) in childhood refractory epilepsies. METHODS: This study was designed as a single-center, retrospective study. Children with refractory epilepsy who has been followed in Behcet Uz Children`s Hospital, Izmir, Turkey, between 2003 and 2007 were included in the study. RESULTS: The study population consisted of 43 boys (60.6%), and 28 girls (39.4%) aged between 2-18 years. Mean age was 8.83 (SD: 3.77) and mean duration of epilepsy was 3.89 (SD: 1.51) years. There were 41 children (57.7%) with mental retardation. Twenty-seven children had generalized epilepsy, and 44 children had localization-related epilepsy. Fifty-one children (71.8%) showed a good response to initial treatment. The retention at a mean of 32 months was 31 out of 71 children (43.6%), and approximately 18 children (25.3%) were seizure free. A loss of efficacy in long-term use occurred in 17 (33.3%) of initial responders. Adverse events were seen in 20 children (28.1%). There were no significant differences between the groups who continued and discontinued TPM treatment in long-term use. CONCLUSION: As a result, it was determined that the drug was more effective and well tolerated in localization-related epilepsies, on long-term follow up.