89 research outputs found
When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center
No full textHaliloglu G, Vezir E, Baydar L, Onol S, Sivri S, Coskun T, Topcu M. When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center. Turk J Pediatr 2012; 54: 52-58
Ullrich Congenital Muscular Dystrophy
No full textObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenitalmuscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in theWestern world mostly seen with de novo dominant mutations in the collagenVI genes. Milder form of the condition is the Bethlem myopathy. There may beoverlap forms in the clinic resembling the Ehler-Danlos syndrome. There hasbeen some radical efforts for cure especially through the apoptosis cascades.Key words: Ullrich congenital muscular dystrophy, collgen VI genes, Bethlemmyopathy, autophagy
Diagnosis of Duchenne muscular dystrophy in Italy in the last decade: Critical issues and areas for improvements
No full textClinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients
No full textA new form of congenital muscular dystrophy (CMD) with multisystem involvement and characteristic mitochondrial structural changes, due to choline kinase beta (CHKB) gene defects has been characterized by intellectual disability, autistic features, ichthyosis-like skin changes, and dilated cardiomyopathy. We define the clinical characteristics in 15 patients, from 14 unrelated families with so-called 'megaconial CMD', all having mutations in CHKB. Core clinical phenotype included global developmental delay prominent in gross-motor and language domains, severe intellectual disability (ID), and/or muscle weakness in all cases. Muscle biopsies were equivocally 'megaconial' in all. Other peculiarities were: ichthyosis-like skin changes (n = 11), increased serum CK levels (n = 12), microcephaly (n = 6), dysmorphic facial features (n = 7), neonatal hypotonia (n = 3), seizures (n = 3), epileptiform activity without clinically overt seizures (n = 2), dilated cardiomyopathy (n = 2), decreased left ventricular systolic function (n = 2), congenital heart defects (n = 3), sensorineural (n = 1), and conductive hearing loss (n = 1). Ten patients had cranial neuroimaging (MRI-MRS) study, which was notably normal in all, other than one patient having a decreased choline: creatine peak. Intra-familial variability in clinical expression of the disease is noted in four families. Two siblings from the same family, one presenting with global developmental delay and dilated cardiomyopathy, and the other with ichthyosis, ID and proximal weakness without cardiomyopathy died at the ages of 2 years 1 month, and 7 years 4 months respectively. Evolution was progressive (n = 13) and static (n = 2)
Practices of pediatric emergency physicians on the first febrile and afebrile seizures: a research in European Pediatric Emergency Medicine Survey Study
No full textNervous system complications of varicella-zoster virus infections: A tertiary center experience
No full textBenign monomelic amyotrophy in a 7-year-old girl with proximal upper limb involvement: case report
No full textMonomelic amyotrophy (MMA) is a benign motor neuron disease characterized by neurogenic amyotrophy, which usually affects one of the upper or lower extremities. Progression is slow and symptoms are clinically stable. Symptoms are seen in the second or third decades of life. In this study, we present a seven-year-old girl who was diagnosed and directed to the Physiotherapy Department at the age of 5 years and had unilateral proximal upper limb involvement. Family history of the case was recorded. Neurologic evaluation was performed. Range of joint motion, muscle shortness and strength, posture, extremity lengths, gait, timed performance, arm function, and motor and mental maturation were assessed. The physiotherapy program was designed progressively as strengthening and resistive exercises. Motor and mental developmental milestones were normal. There was no limitation in active or passive motion of all joints. She had more flexible joints, scapula alata, asymmetry between shoulder levels, and weakness on proximal muscles of the right upper extremity. In the follow-up assessment at eight months, there was no asymmetry between shoulder levels and scapular symmetry began to improve. Female gender and involvement restricted to one proximal upper limb are rare in the literature. This patient demonstrates the positive effects of physical therapy with early diagnosis of MMA. The rapid recovery of muscle weakness shows the importance of strengthening and resistive exercises applied to specific muscles in the treatment
Risk factors for seizure recurrence in a pediatric observation unit
No full textBackground: Most patients present with seizures to pediatric emergency department (PED) are observed for extended periods for the risk of possible acute recurrence
Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience
No full textUp to 15% of Duchenne's muscular dystrophy (DMD) is caused by nonsense mutations (nm-DMD). In this study, we aimed to evaluate the age at diagnosis, presentations, and diagnostic approach in 43 nm-DMD boys. The mean age at presentation and diagnosis was 3 years and 4 years, respectively. Presenting signs or symptoms were asymptomatic creatine kinase (CK) elevation (40%), muscle weakness (30%), motor delay (18%), and walking difficulties (12%). Multiplex polymerase chain reaction (PCR) of the most commonly deleted exons were negative (n = 17), and muscle biopsy was consistent with dystrophinopathy (n = 24). In all patients, multiplex ligation-dependent probe amplification (MLPA) followed by direct sequencing of all exons, revealed nm-DMD. Mean age at genetic diagnosis was 6 years 8 months. Patients were evaluated in twotime periods, between 2006 and 2011 (Group I: n = 10) and 2011 and 2017 (Group II: n = 33). The mean age at diagnosis/genetic confirmation in Group I and in Group 0 was 3 years 9 months/10 years, and 4 years 1 month/5 years 9 months, respectively. Most frequently performed first step diagnostic tests in Group I and Group II were muscle biopsy and MLPA
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