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OBJECTIVE: Corticosteroids and adrenocorticotropic hormone (ACTH) are the therapy of choice to treat infantile spasms. However, systematic studies about their use in other types of childhood epilepsies remain rare and ACTH can have serious side effects. This study compares the interictal epileptic activity (IEA) burden (% of electroencephalography (EEG) time with IEDs) in children with genetic drug-resistant epilepsy before and after a standardized treatment with pulsatile corticoid therapy (PCT). METHODS: Children with drug-resistant epilepsy underwent a standardized protocol for PCT with cycles of high-dose dexamethasone (20 mg/m2 body surface) intravenously. Patients were hospitalized for 3 days per PCT cycle and EEGs were obtained before initiation of treatment (baseline) and during the hospitalization around the time of every second cycle. EEG recordings during sleep and wakefulness were obtained. IEA burden was compared before and after PCT. Secondary outcome measures included the sleep spindle rate, the seizure frequency and subjective evaluation in a standardized interview. RESULTS: In the cohort of 24 children (10 female, 6.2 ± 3.4 years), IEA burden was lower in the EEG after PCT compared to the baseline (baseline: 5.4% [0.7-97.3] vs. after PCT: 1.5% [0-96.9], p = 0.001, d = -0.41). Sleep physiology expressed by sleep spindles improved after PCT with enhanced fast spindle rates (0.8/min [0-2.2] vs. 1.5/min [0.2-3.4], p = 0.045, d = 0.36). Seizure frequency was decreased in 17 of the 24 patients (70.8%) with one patient achieving seizure freedom. The majority of patients improved in quality of life (79.2%), and sleep (81.3%). No serious adverse effects were documented. SIGNIFICANCE: This study systematically assessed the effect of PCT in children with genetic / suspected genetic drug-resistant epilepsy. PCT was found to not only reduce the IEA burden but also increase sleep spindle rates, which are important for cognitive functioning. PLAIN LANGUAGE SUMMARY: In this study, children with a form of epilepsy, which is resistant against antiseizure medication, received a systematic treatment with corticosteroids over multiple cycles in the hospital. It was found that not only the epileptic activity was reduced but also the sleep of the patients was improved after the treatment. These findings could provide the basis for extending the use of corticosteroids in children with epilepsy.
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Dexametasona , Epilepsia Refractaria , Electroencefalografía , Humanos , Femenino , Masculino , Epilepsia Refractaria/tratamiento farmacológico , Niño , Dexametasona/uso terapéutico , Preescolar , Corticoesteroides/uso terapéutico , Corticoesteroides/administración & dosificación , Resultado del Tratamiento , Anticonvulsivantes/uso terapéuticoRESUMEN
Headache is a frequent comorbidity in patients with epilepsy. Data are sparse regarding the distribution of headache types in children with epilepsy (CWE). We aimed to assess the prevalence of primary headache types and their influence on health-related quality of life (QoL) in CWE. CWE filled out a validated headache questionnaire to assess migraine (MIG), tension-type headache (TTH), trigeminal-autonomic cephalalgia (TAC), or, if the criteria were not fulfilled, non-classifiable headache (NCH). QoL was measured using both patient and parent versions of a validated questionnaire. Of 119 CWE (59 female; 11.5 ± 3.1 y), headache was found in 46 (38.7%). Sixteen (34.8%) patients showed MIG, 9 (19.6%) patients TTH, and 21 (45.7%) patients described NCH. More girls reported headache (χ2 = 5.4, p = 0.02) when compared to boys. Overall, QoL was reduced in patients with headache from both the patients' and parents' points of view (70.8% [39.6; 87.5] vs. 77.0% [46.9; 95.8], p = 0.002; 71,9% [33.3; 87.5] vs. 78,1% [54.2; 95.8], p = 0.003). Headache is common among CWE with MIG as the most prevalent primary headache type and higher rates in female patients. Importantly, patients and their parents perceive a reduced overall QoL when suffering from headache.
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BACKGROUND: Headache is among the most common comorbidities in epilepsy. This study examined the distribution of different primary headache disorders in a large cohort of patients with diagnosed epilepsy. Headache types were analysed with regard to gender, type of epilepsy and antiepileptic drugs (AEDs). METHODS: In this prospective single-centre study, 500 patients with epilepsy (250 female, mean age: 45.52 ± 17.26 years) were evaluated with regards to primary headache types using a validated German headache questionnaire categorizing for migraine (MIG), tension-type headache (TTH) or trigeminal autonomic cephalalgias (TAC), their combinations and unclassifiable headache. Data regarding type of epilepsy, seizure-associated headache, AED treatment and seizure freedom were collected. RESULTS: Of 500 patients with epilepsy, 163 (32.6%) patients (108 female and 55 male) reported suffering from headaches at least 1 day per month. MIG (without aura, with aura) and TTH were the most frequent headache type (MIG 33.1%, TTH 33.1%). Female epilepsy patients reported headaches significantly more often than male patients (x2 = 8.20, p = 0.0042). In contrast, the type of epilepsy did not significantly affect headache distribution. Of 163 patients with headache, 66 (40.5%) patients reported seizure-associated headache and AEDs were used by 157 patients. Of importance, patients with AED monotherapy suffered from MIG less often when compared to patients on polytherapy (x2 = 4.79, p = 0.028). CONCLUSION: MIG and TTH are the most common headache types in epilepsy patients and headache is more frequent among female epilepsy patients. Monotherapy in AEDs might have a beneficial effect on the frequency of headache compared to polytherapy.
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Epilepsia , Trastornos Migrañosos , Humanos , Adulto , Masculino , Femenino , Persona de Mediana Edad , Estudios Prospectivos , Cefalea/epidemiología , Cefalea/complicaciones , Cefalea/diagnóstico , Epilepsia/complicaciones , Epilepsia/tratamiento farmacológico , Epilepsia/epidemiología , Trastornos Migrañosos/complicaciones , Trastornos Migrañosos/diagnóstico , Trastornos Migrañosos/epidemiología , ComorbilidadRESUMEN
OBJECTIVE: To assess the diagnostic and prognostic potential of serum neurofilament light chain (sNfL) in children with first acquired demyelinating syndrome (ADS). METHODS: We selected 129 children with first ADS including 19 children with myelin oligodendrocyte glycoprotein (MOG)-antibody associated disease (MOGAD), 36 MOG/AQP4-seronegative ADS, and 74 with multiple sclerosis (MS) from the BIOMARKER study cohort. All children had a complete set of clinical, radiological, laboratory data and serum for NfL measurement using a highly sensitive digital ELISA (SIMOA). A control group of 35 children with non-inflammatory neurological diseases was included. sNfL levels were compared across patient groups according to clinical, laboratory, neuroradiological features and outcome after 2 years. RESULTS: sNfL levels were significantly increased in MOGAD, seronegative ADS and MS compared to controls (p-value < 0.001), in particular in children with an acute disseminated encephalomyelitis (ADEM)-like magnetic resonance imaging (MRI) pattern (p < 0.001) or longitudinally extensive myelitis (p < 0.01). In pediatric MS, elevated sNfL levels were significantly associated with higher numbers of cerebral (p < 0.001) and presence of spinal (p < 0.05) MRI lesions at baseline and predicted a higher number of relapses (p < 0.05). CONCLUSION: sNfL levels are significantly elevated in all three studied pediatric ADS subtypes indicating neuroaxonal injury. In pediatric MS high levels of sNfL are associated with risk factors for disease progression.
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Encefalomielitis Aguda Diseminada , Filamentos Intermedios , Esclerosis Múltiple , Proteínas de Neurofilamentos , Autoanticuerpos , Niño , Enfermedades Desmielinizantes/diagnóstico , Encefalomielitis Aguda Diseminada/diagnóstico , Humanos , Esclerosis Múltiple/diagnóstico , Glicoproteína Mielina-Oligodendrócito , Proteínas de Neurofilamentos/sangreRESUMEN
Ketogenic diet (KD) and pulsatile dexamethasone therapy (PDT) are commonly used in the treatment of children with drug resistant epilepsy. Potential side effects of the KD are hypoglycemia, whereas PDT might lead to hyperglycemia. One practical option to measure glucose concentrations regularly is the flash glucose monitoring system (FGM). In this single-center study in Germany, two pediatric patients with epilepsy (age: 6.0 and 6.8 years) received FGM from the beginning of the KD over six months, in the year 2020, and one patient (9.8 years) was observed for one month on PDT and switched to the KD thereafter. Glucose concentrations were measured by using an FGM system and capillary blood measurement. Seizure frequency, changes in cognition, motor performance, social behavior, and sleep quality were evaluated. The mean hypoglycemia rate per day (65 mg/dL and lower) declined significantly in patient 1 and 2 after three months. Patient 3 showed in total seven hyperglycemic events during PDT. Patient 1 became seizure free. Improvement of attention and memory performance were reported. FGM during the KD as a treatment for drug resistant epilepsies in childhood is a practical option to explore and to avoid hypoglycemia during the KD and hyperglycemia during PDT.
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Cerebral palsy (CP) represents the most common motor impairment in childhood. The presence of sleep problems has not yet been investigated with an instrument specifically designed for this population. In this hospital-based, prospective study, N = 100 children (M = 7.9, range: 2-18 years) with CP were included. All patients underwent pediatric neurologists' screening incorporating instruments (Data Collection Form; Gross Motor Functions Classification System, GMFCS; Bimanual Fine Motor Function, BFMF) recommended by the "Surveillance of Cerebral Palsy in Europe (SCPE)". Parents completed the "Sleep Questionnaire for Children with Severe Psychomotor Impairment (SNAKE)". Children's sleep behavior was increasingly conspicuous, with greater gross motor (SNAKE scales: disturbances remaining asleep, daytime sleepiness) and fine motor (additionally SNAKE scale arousal and breathing problems) functional impairment. Overall, a proportion of children showed sleep behavior outside the SNAKE's normal range. No relevant sleep differences were identified between different CP subtypes and comorbidities. Applying a population-specific questionnaire, children's functional impairment seems to be more relevant to their sleep behavior than the CP subtype or CP comorbidities.
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Pediatric inflammatory multisystem syndrome temporally associated with SARS Cov2 (PIMS-TS) is a newly encountered disease in children sharing clinical features with Kawasaki disease, toxic shock syndrome, or macrophage-activating syndrome. Pathogenically, it is associated with immune-mediated post-infectious hyperinflammation leading to short-term myocardial injury with yet unknown long-term outcome. We herein present three cases of PIMS-TS treated in our institution with divided doses of immunoglobulins and high dose acetyl salicylic acid, according to existing Kawasaki disease guidelines. Due to greater weight in adolescents affected and concerns of rheological sequelae following possible hyperviscosity, doses of immunoglobulins were divided and given 24 h apart with good tolerability. All patients recovered rapidly with normalization of previously encountered cardiac manifestations. As diagnosis of PIMS-TS should be made promptly, timing of therapy is of paramount importance for a favorable outcome. To date, no randomized controlled trial data exist concerning treatment recommendations. 1.8% (95% CI: 1.7% to 2.0%) of all children and adolescents in the county district of Ostallgäu were tested positive for SARS CoV-2, incidence of PIMS-TS was 1.7% (95% CI: 0.9% to 3.1%) among SARS CoV-2 positive tested earlier. As the pandemic is still ongoing, rising numbers of PIMS-TS in children might be expected.
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OBJECTIVE: The aim of this study was to examine a possible association of HbA1c, quality of life (QoL), fitness, and electrophysiological parameters in children with type 1 diabetes mellitus (T1DM). METHODS: The study population (n = 34) consisted of patients with T1DM (n = 17) and an age-, sex-, and BMI-matched healthy control group (n = 17). HbA1c was obtained from patients with T1DM at time of diagnosis (T0), at 6 months (T6), at 12 months (T12), and at time of study inclusion (Tstudy). QoL was determined with a standardized questionnaire (KINDL-R). All children completed a 6-min walk test (6MWT) to evaluate their fitness level. Electrodiagnostic studies established upper and lower limb motor and sensory nerve conduction velocities (NCV). RESULTS: Higher HbA1c (Tstudy) was associated with lower QoL showing in the subscales self-esteem, friends, and school. Higher HbA1c at (T6) and (T12) was associated with lower QoL in the subscale self-esteem. Based on various subscales, perceived problem areas differed significantly between children and their parents. No differences in fitness level and NCV were found between patients and controls except for a significantly slower median motor NCV in patients. HbA1c was not associated with NCVs at this early stage of disease. CONCLUSIONS: Good metabolic control reflected by adequate HbA1c values seems to be important for a good QoL in children with T1DM. Early HbA1c might be associated with QoL during follow-up.
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In December 2019 a novel coronavirus was firstly encountered in Wuhan/China with a massive outbreak of fatal pneumonia leading to a pandemic declared by the World Health Organization in March 2020 (WHO Dashboard COVID-19. [WHO web site]. Available from: https://www.who.int/emergencies/diseases/novel-coronavirus-2019), affecting mainly elderly adults with underlying co-morbidities. Clinical course in children below the age of 10 years is considered to be mild or even with subclinical signs (Sinha IP, Ha et al. The Lancet Respiratory medicine 2020;27;S2213-2600(20) 30152-1). We describe a 4 month old infant with co-infection of SARS CoV-2 and influenza A virus.
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Coinfección/virología , Infecciones por Coronavirus/diagnóstico , Gripe Humana/diagnóstico , Neumonía Viral/diagnóstico , Betacoronavirus , COVID-19 , Alemania , Humanos , Lactante , Pandemias , SARS-CoV-2RESUMEN
PURPOSE: To investigate the effects of various progestins in combined oral contraceptives (COCs) on lamotrigine (LTG) serum concentrations and, vice versa, the potential impact of LTG on progestin serum levels during the menstrual cycle. METHODS: Twenty women with epilepsy (WWE) undergoing LTG monotherapy and COC (LTG group; mean ± SD [median; range] age 24.2 ± 4.6 [23.0; 18-37] years) as well as fourteen controls on COC (24.9 ± 5.6 [22.5; 20-39] years) were assessed for eligibility and all agreed to participate in the study and remained for data analyses. RESULTS: LTG levels differed significantly between phases of inactive pill and active pill use (p= 0.004), particularly with drospirenon (p= 0.018) and levonorgestrel (p= 0.068) as progestogen component but not with gestoden (p= 0.593). Furthermore, the LTG group showed significantly lower progestin levels during inactive pill when compared to active pill use with respect to levonorgestrel (p= 0.042) and drospirenon (p= 0.018) but not to gestoden (p= 0.109). Progestin concentrations did not differ between patients and controls (p> 0.05). CONCLUSIONS: The findings suggest that drospirenon and levonorgestrel but not gestoden seem to reduce LTG serum concentrations when being co-administered in WWE which might be of importance concerning seizure risk. Vice versa, no effect of LTG on several progestins could be demonstrated, arguing against a potential loss of contraception safety with LTG.
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Anticonvulsivantes/sangre , Anticonceptivos Hormonales Orales/sangre , Epilepsia/sangre , Epilepsia/tratamiento farmacológico , Lamotrigina/sangre , Progestinas/sangre , Adolescente , Adulto , Anticonvulsivantes/administración & dosificación , Estudios de Cohortes , Anticonceptivos Hormonales Orales/administración & dosificación , Estudios Transversales , Interacciones Farmacológicas/fisiología , Quimioterapia Combinada , Femenino , Humanos , Lamotrigina/administración & dosificación , Proyectos Piloto , Estudios Prospectivos , Adulto JovenRESUMEN
We herein report the case of a 3-year-old girl with severe myoclonic epilepsy of infancy known as Dravet syndrome (DS) on a ketogenic diet (KD) whose glucose concentrations were controlled by using a flash glucose monitoring system. Two-hundred ninety-three events of moderate hypoglycemia with a minimum of 45 mg/dL, not related to day or night, were recorded during the observational period. Hypoglycemia rate declined from 24.5% of all measurements to 11.8% over time; one hypoglycemia-associated seizure and one seizure due to ketone concentrations below the therapeutic range were observed. In summary, this case report broadens our understanding of hypoglycemia risk in patients with DS on a KD. Especially in childhood, the painless and easy detection of low glucose concentrations might lead to improved cognitive performance, and the reduction of hypoglycemia-induced seizures.
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Glucemia/análisis , Epilepsias Mioclónicas/sangre , Epilepsias Mioclónicas/dietoterapia , Hipoglucemia/sangre , Cetonas/sangre , Preescolar , Dieta Cetogénica , Femenino , Humanos , Monitoreo FisiológicoRESUMEN
OBJECTIVES: Vaccine-preventable diseases remain a major cause of morbidity and mortality in solid-organ transplant candidates and recipients. Newer recommendations include vaccination of all household members to create a herd immunity around the transplant recipient. This study evaluated the vaccination status of pediatric solid-organ transplant recipients and their household members. MATERIALS AND METHODS: We evaluated 30 pediatric solid-organ transplant recipients (14 kidney, 13 liver, 3 heart) and their household members (26 siblings, 30 parents) at time of transplant. RESULTS: Fourteen recipients (47%) received scheduled vaccinations before solid-organ transplant and were up to date for their age with their diphtheria, tetanus, pertussis; hepatitis B virus; poliomyelitis; Haemophilus influenzae type B; Streptococcus pneumoniae conjugate vaccine; and measles, mumps, and rubella vaccinations. Another 7 recipients (23%) had partially completed their schedules, only missing the second dose of the measles, mumps, and rubella vaccine. Fifteen siblings (58%) had either completed (n = 13, 50%) or partially completed (n = 2, 8%) their vaccinations. All 30 parents were either unaware of their vaccination status (n = 10, 33%) or had only incomplete vaccination records (n = 20, 67%). CONCLUSIONS: We found that most pediatric solid-organ transplant recipients to be appropriately vaccinated. However, vaccination status in household members, especially in parents, was disappointing.
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Control de Infecciones/métodos , Trasplante de Órganos/efectos adversos , Padres , Hermanos , Vacunación , Enfermedades Prevenibles por Vacunación/prevención & control , Adolescente , Adulto , Niño , Preescolar , Humanos , Inmunidad Colectiva , Esquemas de Inmunización , Huésped Inmunocomprometido , Inmunosupresores/efectos adversos , Lactante , Masculino , Persona de Mediana Edad , Trasplante de Órganos/mortalidad , Factores Protectores , Estudios Retrospectivos , Factores de Riesgo , Enfermedades Prevenibles por Vacunación/inmunología , Enfermedades Prevenibles por Vacunación/mortalidad , Enfermedades Prevenibles por Vacunación/transmisión , Adulto JovenRESUMEN
Maxillary osteomyelitis is a rare disease, especially in the pediatric population. We present a case of maxillary osteomyelitis in an eight-year-old girl with favorable outcome. Diagnosis was based on magnetic resonance imaging as well as on direct inspection intra operatively. Treatment should be based primarily on clinical signs (e.g. loose teeth). Teeth should not been extracted if healthy.
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Maxilar , Osteomielitis , Niño , Femenino , Humanos , Imagen por Resonancia Magnética , Maxilar/diagnóstico por imagen , Osteomielitis/diagnóstico , Osteomielitis/terapiaRESUMEN
BACKGROUND: The 6-minute walk test (6MWT) in children can be performed in the conventional way, or by using a measuring wheel. This study aimed to compare these test modalities and to determine influencing factors. METHODS: The study included 317 healthy children (172 boys) between 6 and 15 years from elementary schools and high schools, who were randomly assigned to perform a 6MWT either with or without a measuring wheel according to the guidelines of the American Thoracic Society. The 6-minute walk distance (6MWD) was compared between the two measuring modalities as well as different school types. RESULTS: The use of a measuring wheel during the 6MWT led to a significantly greater 6MWD compared to conventional walking. Students of sports schools walked substantially farther than those attending general high schools, irrespective of test modality. In multivariate regression analysis height, post-test heart rate, male sex and the measuring wheel itself were all independently associated with greater 6MWD. CONCLUSIONS: The use of a measuring wheel during a 6MWT reflects physical performance in children and adolescents more accurately as it includes the stretch of way around the cones during lap turns. Test modalities and sports background should be taken into account, especially when performing longitudinal monitoring and multicenter studies.
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Frecuencia Cardíaca/fisiología , Instituciones Académicas , Prueba de Paso/métodos , Caminata/fisiología , Adolescente , Niño , Femenino , Humanos , Masculino , Guías de Práctica Clínica como Asunto , Factores SexualesRESUMEN
BACKGROUND AND OBJECTIVE: Melkersson Rosenthal syndrome (MRS) is a rare disorder of unknown etiology and comprises the triad: orofacial edema, recurrent facial paralysis and lingua plicata. In the current literature confusing heterogeneity exists, mixing together the historically grown terms cheilitis granulomatosa or granulomatous cheilitis, Melkersson Rosenthal syndrome and the umbrella term Orofacial Granulomatosis (OFG). METHODS: We provide a systematic review comprising all three disease entities of orofacial granulomatosis using the computerized database "Pubmed Medline" entering the keywords "orofacial granulomatosis" (141 references), "Melkersson-Rosenthal syndrome" (207 references), "granulomatous cheilitis" or "cheilitis granulomatosa" (102 references) back to 1956. Full-text journals and case studies were included, and data synthesis was performed individually. RESULTS: Etiology remains unclear for all three disease entities. Etiological relatedness to chronic inflammatory bowel disease is under discussion and effectiveness was found for different treatments, e.g. local triamcinolone injections, antibiotics, surgical interventions, TNF alpha blockers or exclusive enteral nutrition. No randomized controlled trial concerning the therapy of orofacial granulomatosis was found. As a consequence, the therapeutic conclusion is drawn mainly from small case series, thus limiting the evidence of therapeutic interventions. CONCLUSION: OFG with the sub-entities MRS and cheilitis granulomatosa is an etiological obscure disease process with various possible therapeutic interventions potentially alleviating the disease course but to broaden treatment knowledge further study in randomized controlled trials is needed.
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Granulomatosis Orofacial/diagnóstico , Síndrome de Melkersson-Rosenthal/diagnóstico , Adolescente , Adulto , Anciano , Niño , Preescolar , Femenino , Granulomatosis Orofacial/terapia , Humanos , Masculino , Síndrome de Melkersson-Rosenthal/terapia , Persona de Mediana Edad , Adulto JovenRESUMEN
Objective The objective of this study was to evaluate the correlation between fitness and health-related quality of life (HRQoL) in children with idiopathic epilepsy compared with a healthy matched control group. Methods In this study, 107 children conducted a 6-minute walk test, anthropometric parameters were measured, and HRQoL was assessed using a standardized questionnaire (KINDL-R). Children were divided into two groups: (1) the patient group (n = 48) and (2) the healthy control group (n = 59). Results HRQoL of children with focal epilepsy was greater when compared with healthy children and children with generalized epilepsy. A significant association could be demonstrated for the 6-minute walk distance and mental wellbeing in children with epilepsy but not in healthy children. Furthermore, a negative correlation between the HRQoL and the amount of time spent in front of TV and computer in children with epilepsy and healthy children was seen. In children with focal epilepsy, a significant negative correlation could be shown between school sport and mental wellbeing as well as between school sport and self-esteem. Conclusion HRQoL in children with idiopathic epilepsy is significantly associated with physical fitness and might be positively influenced by an adequate education of patients and parents, a reduction of consumption of computer and TV in combination with age- and disease-adapted physical activity and sports.
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Epilepsia/fisiopatología , Epilepsia/psicología , Aptitud Física/psicología , Calidad de Vida , Adolescente , Antropometría , Niño , Estudios de Cohortes , Estudios Transversales , Femenino , Humanos , Masculino , Deportes , Encuestas y Cuestionarios , Prueba de PasoRESUMEN
Primary 5-oxoprolinuria (pyroglutamic aciduria) is caused by a genetic defect in the γ-glutamyl cycle, affecting either glutathione synthetase or 5-oxoprolinase. While several dozens of patients with glutathione synthetase deficiency have been reported, with hemolytic anemia representing the clinical key feature, 5-oxoprolinase deficiency due to OPLAH mutations is less frequent and so far has not attracted much attention. This has prompted us to investigate the clinical phenotype as well as the underlying genotype in patients from 14 families of various ethnic backgrounds who underwent diagnostic mutation analysis following the detection of 5-oxoprolinuria. In all patients with 5-oxoprolinuria studied, bi-allelic mutations in OPLAH were indicated. An autosomal recessive mode of inheritance for 5-oxoprolinase deficiency is further supported by the identification of a single mutation in all 9/14 parent sample sets investigated (except for the father of one patient whose result suggests homozygosity), and the absence of 5-oxoprolinuria in all tested heterozygotes. It is remarkable, that all 20 mutations identified were novel and private to the respective families. Clinical features were highly variable and in several sib pairs, did not segregate with 5-oxoprolinuria. Although a pathogenic role of 5-oxoprolinase deficiency remains possible, this is not supported by our findings. Additional patient ascertainment and long-term follow-up is needed to establish the benign nature of this inborn error of metabolism. It is important that all symptomatic patients with persistently elevated levels of 5-oxoproline and no obvious explanation are investigated for the genetic etiology.
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Errores Innatos del Metabolismo de los Aminoácidos/genética , Glutatión Sintasa/deficiencia , Piroglutamato Hidrolasa/deficiencia , Piroglutamato Hidrolasa/genética , Ácido Pirrolidona Carboxílico/metabolismo , Adolescente , Alelos , Errores Innatos del Metabolismo de los Aminoácidos/enzimología , Errores Innatos del Metabolismo de los Aminoácidos/fisiopatología , Niño , Preescolar , Femenino , Glutatión/metabolismo , Glutatión Sintasa/genética , Heterocigoto , Homocigoto , Humanos , Lactante , Masculino , MutaciónRESUMEN
We report a girl with autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) who presented with asymmetric gait impairment, foot drop, and action myotonia on fast handgrip. Electrophysiological studies showed symmetrical axonal motor greater than sensory neuropathy, and neuromyotonic discharges on needle electromyography. ARAN-NM was confirmed by molecular genetic testing, which revealed a novel homozygous missense variant c.100G > A [p.(Glu34Lys)] in HINT1. This case shows that the diagnosis of ARAN-NM, as a new entity, has to be considered in the differential diagnosis of polyneuropathy in combination with neuromyotonia/action myotonia in children, even with asymmetric clinical presentation.
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Neuropatía Hereditaria Motora y Sensorial/diagnóstico , Síndrome de Isaacs/diagnóstico , Síndrome de Isaacs/genética , Mutación Missense , Proteínas del Tejido Nervioso/genética , Niño , Electromiografía , Femenino , Genes Recesivos , Humanos , Síndrome de Isaacs/fisiopatología , Músculo Esquelético/fisiopatología , Conducción Nerviosa , Examen NeurológicoRESUMEN
UNLABELLED: The 6-min walk test is a simple and accurate method to measure functional exercise capacity in children. We provide smooth reference curves for the modified 6-min walk test in 696 healthy children and adolescents aged 4-19 years, enabling calculation of sex-, age-, and height-specific Z-scores. CONCLUSION: These reference curves will allow more accurate grading of mobility and exercise capacity in sick or disabled children and monitoring the effects of intervention or treatment.