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Morbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type 4 (CGL4), an ultra-rare disorder, remain unclear. We report on 30 females and 16 males from 10 countries with biallelic null variants in CAVIN1 gene (mean age, 12 years; range, 2 months to 41 years). Hypertriglyceridemia was seen in 79% (34/43), hepatic steatosis in 82% (27/33) but diabetes mellitus in only 21% (8/44). Myopathy with elevated serum creatine kinase levels (346-3325 IU/L) affected all of them (38/38). 39% had scoliosis (10/26) and 57% had atlantoaxial instability (8/14). Cardiac arrhythmias were detected in 57% (20/35) and 46% had ventricular tachycardia (16/35). Congenital pyloric stenosis was diagnosed in 39% (18/46), 9 had esophageal dysmotility and 19 had intestinal dysmotility. Four patients suffered from intestinal perforations. Seven patients died at mean age of 17 years (range: 2 months to 39 years). The cause of death in four patients was cardiac arrhythmia and sudden death, while others died of prematurity, gastrointestinal perforation, and infected foot ulcers leading to sepsis. Our study highlights high prevalence of myopathy, metabolic abnormalities, cardiac, and gastrointestinal problems in patients with CGL4. CGL4 patients are at high risk of early death mainly caused by cardiac arrhythmias.
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Lipodistrofia Generalizada Congênita , Proteínas de Ligação a RNA , Humanos , Masculino , Feminino , Lipodistrofia Generalizada Congênita/genética , Lipodistrofia Generalizada Congênita/complicações , Lipodistrofia Generalizada Congênita/patologia , Adolescente , Criança , Lactente , Pré-Escolar , Adulto , Adulto Jovem , Arritmias Cardíacas/genética , Arritmias Cardíacas/patologia , Hipertrigliceridemia/genética , Hipertrigliceridemia/complicações , Hipertrigliceridemia/patologiaRESUMO
Pediatric neuropathy attributed to metabolic dysfunction is a well-known complication in children and youth with type 1 diabetes. Moreover, the rise of obesity and in particular of type 2 diabetes may cause an uptick in pediatric neuropathy incidence. However, despite the anticipated increase in neuropathy incidence, pathogenic insights and strategies to prevent or manage neuropathy in the setting of diabetes and obesity in children and youth remain unknown. Data from adult studies and available youth cohort studies are providing an initial understanding of potential diagnostic, management, and preventative measures in early life. This review discusses the current state of knowledge emanating from these efforts, with particular emphasis on the prevalence, clinical presentation, diagnostic approaches and considerations, and risk factors of neuropathy in type 1 and type 2 diabetes in children and youth. Also highlighted are current management strategies and recommendations for neuropathy in children and youth with diabetes. This knowledge, along with continued and sustained emphasis on identifying and eliminating modifiable risk factors, completing randomized controlled trials to assess effectiveness of strategies like weight loss and exercise, and enhancing awareness to support early detection and prevention, are pertinent to addressing the rising incidence of neuropathy associated with diabetes and obesity in children and youth.
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Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 2/complicações , Neuropatias Diabéticas/epidemiologia , Adolescente , Criança , Diabetes Mellitus Tipo 1/epidemiologia , Diabetes Mellitus Tipo 2/epidemiologia , Neuropatias Diabéticas/diagnóstico , Humanos , Incidência , Prevalência , Fatores de Risco , Adulto JovemRESUMO
Purpose/Aim of the study: Acquired partial lipodystrophy (APL) is a rare disease characterized by selective loss of adipose tissue. In this study, we aimed to present a subset of patients with APL, who developed severe metabolic abnormalities, from our national lipodystrophy registry. MATERIALS AND METHODS: Severe metabolic abnormalities were defined as: poorly controlled diabetes (HbA1c above 7% despite treatment with insulin more than 1 unit/kg/day combined with oral antidiabetics), severe hypertriglyceridemia (triglycerides above 500 mg/dL despite treatment with lipid-lowering drugs), episodes of acute pancreatitis, or severe hepatic involvement (biopsy-proven non-alcoholic steatohepatitis (NASH)). RESULTS: Among 140 patients with all forms of lipodystrophy (28 with APL), we identified 6 APL patients with severe metabolic abnormalities. The geometric mean for age was 37 years (range: 27-50 years; 4 females and 2 males). Five patients had poorly controlled diabetes despite treatment with high-dose insulin combined with oral antidiabetics. Severe hypertriglyceridemia developed in five patients, of those three experienced episodes of acute pancreatitis. Although all six patients had hepatic steatosis at various levels on imaging studies, NASH was proven in two patients on liver biopsy. Our data suggested that APL patients with severe metabolic abnormalities had a more advanced fat loss and longer disease duration. CONCLUSIONS: We suggest that these patients represent a potential subgroup of APL who may benefit from metreleptin or investigational therapies as standard treatment strategies fail to achieve a good metabolic control.
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Diabetes Mellitus/etiologia , Hipertrigliceridemia/etiologia , Lipodistrofia/complicações , Hepatopatia Gordurosa não Alcoólica/etiologia , Pancreatite/etiologia , Adulto , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
OBJECTIVES: Lipodystrophy syndromes are a group of heterogeneous disorders characterized by adipose tissue loss. Proteinuria is a remarkable finding in previous reports. STUDY DESIGN: In this multicentre study, prospective follow-up data were collected from 103 subjects with non-HIV-associated lipodystrophy registered in the Turkish Lipodystrophy Study Group database to study renal complications in treatment naïve patients with lipodystrophy. METHODS: Main outcome measures included ascertainment of chronic kidney disease (CKD) by studying the level of proteinuria and the estimated glomerular filtration rate (eGFR). Kidney volume was measured. Percutaneous renal biopsies were performed in 9 patients. RESULTS: Seventeen of 37 patients with generalized and 29 of 66 patients with partial lipodystrophy had CKD characterized by proteinuria, of those 12 progressed to renal failure subsequently. The onset of renal complications was significantly earlier in patients with generalized lipodystrophy. Patients with CKD were older and more insulin resistant and had worse metabolic control. Increased kidney volume was associated with poor metabolic control and suppressed leptin levels. Renal biopsies revealed thickening of glomerular basal membranes, mesangial matrix abnormalities, podocyte injury, focal segmental sclerosis, ischaemic changes and tubular abnormalities at various levels. Lipid vacuoles were visualized in electron microscopy images. CONCLUSIONS: CKD is conspicuously frequent in patients with lipodystrophy which has an early onset. Renal involvement appears multifactorial. While poorly controlled diabetes caused by severe insulin resistance may drive the disease in some cases, inherent underlying genetic defects may also lead to cell autonomous mechanisms contributory to the pathogenesis of kidney disease.
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Nefropatias/etiologia , Lipodistrofia/complicações , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Taxa de Filtração Glomerular/fisiologia , Humanos , Lactente , Resistência à Insulina/fisiologia , Rim/patologia , Nefropatias/fisiopatologia , Lipodistrofia/fisiopatologia , Lipodistrofia Parcial Familiar/complicações , Lipodistrofia Parcial Familiar/fisiopatologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Adulto JovemRESUMO
Objective : To evaluate the value of neurologic and cardiologic assessment and also the frequency of iron deficiency anemia in children with Breath Holding Spells (BHS). Methods : The hospital charts of patients diagnosed with BHS between 2011 and 2013 were reviewed retrospectively. Results : A total of 165 children (90 boys, 75 girls) with BHS comprised the study group. A matched group of 200 children with febrile convulsions served as controls. Among the first-degree relatives, 13.3% had BHS, 1.8% had febrile convulsions and 12.1% had epilepsy. The spells were cyanotic in 140 (84.8%) children and pallid or mixed in the remainder. BNS type was simple in 46.7% of patients and complicated in the remainder. Eighteen patients had abnormalities in electroencephalography, however only one patient was diagnosed with epilepsy. Sixty nine (47.9%) patients were found to have iron deficiency anemia. Conclusion : Referral of children with clinically definite BHS to pediatric neurology or pediatric cardiology clinics and performance of echocardiography and EEG investigations for exclusion of heart disease or epilepsy appear unnecessary. However, performance of an electrocardiogram to search for prolonged QT syndrome should be considered although no patient in our series had any cardiologic abnormalities.
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GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, are very rare lysosomal storage diseases with an incidence of about 1:100,000-1:200,000 live births worldwide. Here we report the beta-galactosidase gene (GLB1) mutation analysis of 21 unrelated GM1 gangliosidosis patients, and of 4 Morquio B patients, of whom two are brothers. Clinical features of the patients were collected and compared with those in literature. In silico analyses were performed by standard alignments tools and by an improved version of GLB1 three-dimensional models. The analysed cohort includes remarkable cases. One patient with GM1 gangliosidosis had a triple X syndrome. One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation. Molecular analysis showed 27 mutations, 9 of which are new: 5 missense, 3 microdeletions and a nonsense mutation. We also identified four new genetic variants with a predicted polymorphic nature that was further investigated by in silico analyses. Three-dimensional structural analysis of GLB1 homology models including the new missense mutations and the p.R68W and p.R109W amino acid changes showed that all the amino acid replacements affected the resulting protein structures in different ways, from changes in polarity to folding alterations. Genetic and clinical associations led us to undertake a critical review of the classifications of late-onset GM1 gangliosidosis and Morquio B disease.
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Gangliosidose GM1/genética , Mucopolissacaridose IV/genética , Sequência de Aminoácidos , Pré-Escolar , Feminino , Gangliosidose GM1/patologia , Genótipo , Humanos , Lactente , Modelos Moleculares , Dados de Sequência Molecular , Mucopolissacaridose IV/patologia , Mutação , Fenótipo , Homologia de Sequência de Aminoácidos , beta-Galactosidase/química , beta-Galactosidase/genéticaRESUMO
Lactococcus lactis cremoris infections are very rare in humans. It is recognized as a commensal organism of mucocutaneous surfaces of cattle, and is occasionally isolated from human mucocutaneous surfaces. We report a brain abscess caused by L. lactis cremoris in an immunocompetent child. A 19-month-old female patient was admitted with fever and vomiting. Brain computed tomography (CT) revealed brain abscess. L. lactis cremoris was isolated from culture of the abscess material. The patient was treated with pus drainage from brain abscess and antibiotics including vancomycin and meropenem. The patient recovered completely. To our knowledge, this is the first report of a L. lactis cremoris infection in children.
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Abscesso Encefálico/diagnóstico , Lactococcus lactis/isolamento & purificação , Leite/microbiologia , Lobo Temporal , Animais , Antibacterianos/uso terapêutico , Abscesso Encefálico/microbiologia , Abscesso Encefálico/terapia , Bovinos , Diagnóstico Diferencial , Drenagem , Feminino , Seguimentos , Humanos , Lactente , Imageamento por Ressonância Magnética , Tomografia Computadorizada por Raios XRESUMO
Lipodystrophy syndromes are rare complex multisystem disorders caused by generalized or partial lack of adipose tissue. Adipose tissue dysfunction in lipodystrophy is associated with leptin deficiency. Lipodystrophy leads to severe metabolic problems. These abnormalities include, but are not limited to, insulin-resistant diabetes, severe hypertriglyceridemia, and lipid accumulation in ectopic organs such as the liver, and are associated with end-organ complications. Metabolic abnormalities can be present at the time of diagnosis or may develop over time as the disease progresses. In addition to metabolic abnormalities, subtype-specific presentations due to underlying molecular etiology in genetic forms and autoimmunity in acquired forms contribute to severe morbidity in lipodystrophy.
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Leptina/deficiência , Lipodistrofia/complicações , Doenças Autoimunes/etiologia , Diabetes Mellitus/etiologia , Cardiopatias/genética , Humanos , Hipertrigliceridemia/etiologia , Resistência à Insulina , Nefropatias/complicações , Metabolismo dos Lipídeos , Lipodistrofia/genética , Lipodistrofia/metabolismo , Lipodistrofia/mortalidade , Fígado/metabolismo , Síndrome Metabólica/etiologia , Doenças Neuromusculares/etiologia , Hepatopatia Gordurosa não Alcoólica/etiologia , Pancreatite/etiologia , SíndromeRESUMO
BACKGROUNDWe aimed to determine whether metabolic syndrome (MetS) affects longitudinal trajectories of diabetic complications, including neuropathy, cardiovascular autonomic neuropathy (CAN), and kidney disease in American Indians with type 2 diabetes.METHODSWe performed a prospective study where participants underwent annual metabolic phenotyping and outcome measurements. The updated National Cholesterol Education Program criteria were used to define MetS and its individual components, using BMI instead of waist circumference. Neuropathy was defined using the Michigan Neuropathy Screening Instrument index, CAN with the expiration/inspiration ratio, and kidney disease with glomerular filtration rate. Mixed-effects models were used to evaluate associations between MetS and these outcomes.RESULTSWe enrolled 141 participants: 73.1% female, a mean (±SD) age of 49.8 (12.3), and a diabetes duration of 19.6 years (9.7 years) who were followed for a mean of 3.1 years (1.7 years). MetS components were stable during follow-up except for declining obesity and cholesterol. Neuropathy (point estimate [PE]: 0.30, 95% CI: 0.24, 0.35) and kidney disease (PE: -14.2, 95% CI: -16.8, -11.4) worsened over time, but CAN did not (PE: -0.002, 95% CI: -0.006, 0.002). We found a significant interaction between the number of MetS components and time for neuropathy (PE: 0.05, 95% CI: 0.01-0.10) but not CAN (PE: -0.003, 95% CI: -0.007, 0.001) or kidney disease (PE: -0.69, 95% CI: -3.16, 1.76). Systolic blood pressure (SBP, unit = 10 mmHg) was associated with each complication: neuropathy (PE: 0.23, 95% CI: 0.07, 0.39), CAN (PE: -0.02, 95% CI: -0.03, -0.02), and kidney disease (PE: -10.2, 95% CI: -15.4, -5.1).CONCLUSIONIn participants with longstanding diabetes, neuropathy and kidney disease worsened during follow-up, despite stable to improving MetS components, suggesting that early metabolic intervention is necessary to prevent complications in such patients. Additionally, the number of MetS components was associated with an increased rate of neuropathy progression, and SBP was associated with each complication.FUNDINGThe following are funding sources: NIH T32NS0007222, NIH R24DK082841, NIH R21NS102924, NIH R01DK115687, the Intramural Program of the NIDDK, the NeuroNetwork for Emerging Therapies, the Robert and Katherine Jacobs Environmental Health Initiative, the Robert E. Nederlander Sr. Program for Alzheimer's Research, and the Sinai Medical Staff Foundation.TRIAL REGISTRATIONClinicalTrials.gov, NCT00340678.
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Indígena Americano ou Nativo do Alasca/estatística & dados numéricos , Diabetes Mellitus Tipo 2 , Nefropatias Diabéticas , Síndrome Metabólica , Adulto , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/epidemiologia , Nefropatias Diabéticas/complicações , Nefropatias Diabéticas/epidemiologia , Feminino , Taxa de Filtração Glomerular/fisiologia , Humanos , Masculino , Síndrome Metabólica/complicações , Síndrome Metabólica/epidemiologia , Pessoa de Meia-Idade , Estudos Prospectivos , Ensaios Clínicos Controlados Aleatórios como AssuntoRESUMO
OBJECTIVE: The aim of this study was to determine the effect of dietary weight loss on neuropathy outcomes in people with severe obesity. METHODS: A prospective cohort study of participants attending a medical weight-management program was followed. Weight loss was achieved with meal replacement of 800 kcal/d for 12 weeks and then transitioning to 1,200 to 1,500 kcal/d. The coprimary outcomes were changes in intraepidermal nerve fiber density (IENFD) at the distal leg and proximal thigh. Secondary outcomes included nerve conduction studies, Michigan Neuropathy Screening Instrument questionnaire and exam, Quality of Life in Neurological Disorders, and quantitative sensory testing. RESULTS: Among 131 baseline participants, 72 (mean [SD] age: 50.1 [10.5] years, 51.4% female) completed 2 years of follow-up. Participants lost 12.4 (11.8) kg. All metabolic syndrome components improved with the exception of blood pressure. IENFD in the distal leg (0.4 [3.3], p = 0.29), and proximal thigh (0.3 [6.3], p = 0.74) did not significantly change. Improvements were observed on the Michigan Neuropathy Screening Instrument questionnaire, two Quality of Life in Neurological Disorders subdomains, and quantitative sensory testing cold threshold. CONCLUSIONS: Dietary weight loss was associated with improvements in all metabolic parameters except blood pressure, and both IENFD outcomes remained stable after 2 years. Given that natural history studies reveal decreases in IENFD over time, dietary weight loss may halt this progression, but randomized controlled trials are needed.
Assuntos
Obesidade Mórbida , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fibras Nervosas/fisiologia , Obesidade Mórbida/complicações , Obesidade Mórbida/terapia , Estudos Prospectivos , Qualidade de Vida , Redução de PesoRESUMO
Miller Fisher syndrome classically presents with ophthalmoplegia, ataxia and areflexia. The syndrome may present rarely with atypical clinical features. Whether the central or peripheral nervous system is primarily involved remains controversial. Miller Fisher syndrome usually follows an infection, the most likely being Campylobacter jejuni. Mycoplasma pneumoniae has been reported rarely as the antecedent infectious agent in some patients. Herein, we report a 13-year-old girl with positive mycoplasma immunoglobulin (Ig)M and IgG serology who presented with one-sided horizontal gaze palsy, ataxia, areflexia, and bulbar palsy. Her cranial magnetic resonance imaging was normal and blood serum was negative for anti-GQ1b IgG antibodies.
Assuntos
Gangliosídeos/imunologia , Síndrome de Miller Fisher/complicações , Transtornos da Motilidade Ocular/etiologia , Adolescente , Anticorpos Anti-Idiotípicos/análise , Feminino , Humanos , Imunoglobulina G/imunologia , Síndrome de Miller Fisher/imunologiaRESUMO
BACKGROUND/AIMS: Lipodystrophy is a rare metabolic disorder characterized by near total or partial lack of subcutaneous adipose tissue and associated with insulin resistance. We aimed to evaluate the efficacy of magnetic resonance spectroscopy imaging (MRS) to explore the fat content of the liver in patients with lipodystrophy and to determine the relationship between the liver fat accumulation and clinical presentations of lipodystrophy. MATERIALS AND METHODS: Between July 2014 and February 2016, 34 patients with lipodystrophy were assessed by MRS for quantification of hepatic steatosis. All patients had metabolic abnormalities associated with insulin resistance. Metabolic parameters and the MRS findings were analyzed to identify potential correlations between the liver fat content and disease severity. RESULTS: The MRS fat ratios (MRS-FR) were markedly higher, indicating severe hepatic steatosis in lipodystrophy. Patients with generalized and partial lipodystrophy had comparable levels of MRS-FRs, although patients with generalized lipodystrophy were significantly younger. Patients with genetically based lipodystrophy had elevated MRS-FR compared to those with acquired lipodystrophy (p=0.042). The MRS-FR was positively correlated with liver enzyme alanine aminotransferase (p=0.028) and serum adiponectin (p=0.043). CONCLUSION: Our data suggest that MRS might be an effective, noninvasive imaging method to quantify hepatic fat content in patients with lipodystrophy. Further studies are needed to validate the technique and threshold values which would allow accurate comparison of data acquired by different machines and centers.
Assuntos
Fígado Gorduroso/diagnóstico , Lipodistrofia/patologia , Espectroscopia de Ressonância Magnética/métodos , Tecido Adiposo/patologia , Adolescente , Adulto , Fígado Gorduroso/etiologia , Feminino , Humanos , Lipodistrofia/complicações , Fígado/patologia , Masculino , Reprodutibilidade dos Testes , Índice de Gravidade de Doença , Adulto JovemRESUMO
Krabbe disease is a lysosomal storage disease caused by galactosylceramidase deficiency, resulting in neurodegeneration with a rapid clinical downhill course within the first months of life in the classic infantile form. This process may be triggered by the accumulation of galactosylceramide (GalCer) in nervous tissues. Both the enzyme galactosylceramidase and its in vivo activator molecule, saposin A, are essential during GalCer degradation. A clinical manifestation almost identical to Krabbe disease is observed when, instead of the galactosylceramidase protein, the saposin A molecule is defective. Saposin A results from posttranslational processing of the precursor molecule, prosaposin, encoded by the PSAP gene. Clinical and neuroimaging findings in a 7-month-old child strongly suggested Krabbe disease, but this condition was excluded by enzymatic and genetic testing. However, at whole exome sequencing, the previously undescribed homozygous, obviously pathogenic PSAP gene NM_002778.3:c.209T>G(p.Val70Gly) variant was determined in the saposin A domain of the PSAP gene. Fibroblast studies showed GalCer accumulation and the activation of autophagy for the first time in a case of human saposin A deficiency. Our patient represents the second known case in the literature and provides new information concerning the pathophysiology of saposin A deficiency and its intralysosomal effects.
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OBJECTIVE: Childhood obesity is associated with impaired endothelial function, insulin resistance and inflammation. Being at risk for overweight has been defined as having a body mass index (BMI) between the 85th and 94th percentile for age and sex. In this study, we looked for features linked to cardiovascular risk in children who are at risk for overweight. DESIGN: Twenty-one children who were at risk for overweight (study group) and 20 children with a BMI between the 25th-74th percentiles (controls) were studied. Fasting blood levels of glucose, insulin, total cholesterol, HDL cholesterol, triglycerides, uric acid, fibrinogen and high sensitive C-reactive protein (CRP) were assessed in both groups. LDL-cholesterol, HOMA-IR and QUICKI indices were calculated. Flow-mediated Vasodilatation (FMD) was determined for the evaluation of endothelial function. RESULTS: Increased HOMA-IR was observed in children who were at risk for overweight. Waist circumference was the main predictor of insulin resistance in these children. Higher levels of CRP were found in the study group compared to controls, while plasma fibrinogen did not differ in the two groups. The children who were at risk for overweight had lower FMD values and slightly elevated lipids compared to controls; however, these differences were not statistically significant. CONCLUSION: Insulin resistance and inflammation indices were higher in children who were at risk for overweight as has been shown for obese children. The data suggest that appropriate treatment strategies for weight control are essential not only for obese children but also for those at risk for overweight.
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Biomarcadores/sangue , Endotélio Vascular/imunologia , Resistência à Insulina/imunologia , Sobrepeso/epidemiologia , Sobrepeso/imunologia , Adolescente , Aterosclerose/epidemiologia , Aterosclerose/imunologia , Glicemia , Índice de Massa Corporal , Proteína C-Reativa/metabolismo , Criança , HDL-Colesterol/sangue , Feminino , Fibrinogênio/metabolismo , Humanos , Insulina/sangue , Masculino , Obesidade/epidemiologia , Obesidade/imunologia , Fatores de Risco , Triglicerídeos/sangue , Ácido Úrico/sangueRESUMO
The aim of this study is to analyze the epidemiology of the clinical and genetic features of childhood-onset limb-girdle muscular dystrophies (LGMD) in the Aegean part of Turkey. In total fifty-six pediatric cases with LGMD followed in four different pediatric neurology departments in the Aegean region of Turkey were evaluated. Among them, LGMD2C was the most common followed by LGMD2A, LGMD2D, and LGMD2F with equal frequencies. In twenty-eight patients (50%) the diagnosis could be confirmed by genetic analysis, where SGCG proved to be disease-causing in most of the cases. About half of the patients were diagnosed with whole exome or targeted gene sequencing. A positive correlation between muscle biopsy and genetic findings were observed in 11% of the patients. We report one novel frameshifting mutation in TTN. Knowledge on frequencies of childhood-onset limb-girdle muscular dystrophies and related genes in Turkey will lead to a prompt diagnosis of these neuromuscular disorders.
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Distrofia Muscular do Cíngulo dos Membros/epidemiologia , Distrofia Muscular do Cíngulo dos Membros/genética , Adolescente , Idade de Início , Biópsia , Calpaína/genética , Criança , Pré-Escolar , Conectina/genética , Feminino , Testes Genéticos , Humanos , Lactente , Lamina Tipo A/genética , Masculino , Manosiltransferases/genética , Proteínas dos Microfilamentos , Proteínas Musculares/genética , Músculo Esquelético/patologia , Distrofia Muscular do Cíngulo dos Membros/complicações , Distrofia Muscular do Cíngulo dos Membros/patologia , Sarcoglicanopatias/epidemiologia , Sarcoglicanopatias/genética , Sarcoglicanas/genética , Turquia/epidemiologiaAssuntos
Cistos/diagnóstico , Deficiências do Desenvolvimento/diagnóstico , Megalencefalia/diagnóstico , Fibras Nervosas Mielinizadas/patologia , Pré-Escolar , Cistos/complicações , Cistos/patologia , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/patologia , Diagnóstico Diferencial , Humanos , Masculino , Megalencefalia/complicações , Megalencefalia/patologia , SíndromeRESUMO
Miller Fisher syndrome is characterized by the acute onset of ophthalmoplegia, ataxia, and areflexia. Anti-GQ1b antibodies are useful markers for the differential diagnosis of Miller Fisher syndrome. We describe the case of a seven-year-old male who presented with a four-day history of diplopia and ophthalmoplegia following a febrile flu-like illness with sore throat. On examination he was found to have ataxia, areflexia and ophthalmoplegia, and a diagnosis of Miller Fisher syndrome was made after the exclusion of other conditions and concomitant with electrophysiological findings on electromyography. Although this disorder has a rare incidence, it should still be considered in the differential diagnosis in our country.
Assuntos
Imunoglobulina G/sangue , Imunoglobulinas Intravenosas/uso terapêutico , Síndrome de Miller Fisher/diagnóstico , Criança , Diagnóstico Diferencial , Eletromiografia , Humanos , Masculino , Síndrome de Miller Fisher/imunologia , Síndrome de Miller Fisher/fisiopatologiaRESUMO
Lipodystrophy is a heterogeneous group of disorders characterized by loss of adipose tissue. Here, we report on clinical spectra of neuromuscular manifestations of Turkish patients with lipodystrophy. Seventy-four patients with lipodystrophy and 20 healthy controls were included. Peripheral sensorimotor neuropathy was a common finding (67.4%) in lipodystrophic patients with diabetes. Neuropathic foot ulcers were observed in 4 patients. Drop foot developed in 1 patient with congenital generalized lipodystrophy type 1. Muscle symptoms and hypertrophy were consistent findings in congenital generalized lipodystrophy (21/21) and familial partial lipodystrophy (25/34); on the other hand, overt myopathy with elevated creatine kinase activity was a distinctive characteristic of congenital generalized lipodystrophy type 4. Muscle biopsies revealed myopathic changes at different levels. Accumulation of triglycerides was observed which contributes to insulin resistance. All patients with congenital generalized lipodystrophy suffered from tight Achilles tendons at various levels. Scoliosis was observed in congenital generalized lipodystrophy type 4 (2/2) and familial partial lipodystrophy type 2 (2/17). Atlantoaxial instability was unique to congenital generalized lipodystrophy type 4 (2/2). Bone cysts were detected in congenital generalized lipodystrophy type 1 (7/10) and congenital generalized lipodystrophy type 2 (2/8). Our study suggests that lipodystrophies are associated with a wide spectrum of neuromuscular abnormalities.
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Tecido Adiposo/patologia , Lipodistrofia Generalizada Congênita/patologia , Lipodistrofia Parcial Familiar/patologia , Doenças Musculares/patologia , Adolescente , Adulto , Feminino , Humanos , Resistência à Insulina/fisiologia , Lipodistrofia Generalizada Congênita/diagnóstico , Lipodistrofia Generalizada Congênita/terapia , Lipodistrofia Parcial Familiar/diagnóstico , Lipodistrofia Parcial Familiar/terapia , Masculino , Pessoa de Meia-Idade , Músculos/patologia , Triglicerídeos/metabolismo , Adulto JovemRESUMO
PURPOSE: We aimed to investigate residual adipose tissue with whole-body magnetic resonance imaging to differentiate between subtypes of lipodystrophy. METHODS: A total of 32 patients (12 with congenital generalized lipodystrophy [CGL], 1 with acquired generalized lipodystrophy [AGL], 12 with familial partial lipodystrophy [FPLD], and 7 with acquired partial lipodystrophy [APL]) were included. RESULTS: Despite generalized loss of metabolically active adipose tissue, patients with CGL1 caused by AGPAT2 mutations had a significant amount of residual adipose tissue in the scalp, earlobes, retro-orbital region, and palms and soles. No residual adipose tissue was noted particularly in the head and neck, palms and soles in CGL2 caused by BSCL2 mutations. CGL4 caused by mutations in the PTRF gene was characterized with well-preserved retro-orbital and bone marrow fat in the absence of any visible residual adipose tissue in other areas. No residual adipose tissue was observed in AGL. Despite loss of subcutaneous fat, periarticular adipose tissue was preserved in the lower limbs of patients with FPLD. Retro-orbital adipose tissue was surprisingly preserved in APL, although they lacked head and neck fat. CONCLUSION: Lipodystrophies are a heterogeneous group of disorders characterized by generalized or partial loss of adipose tissue, which can be congenital or acquired. Our results suggest that residual adipose tissue characteristics can help distinguish different subtypes of lipodystrophy.