نتایج جستجو برای: central hypotonia
تعداد نتایج: 471786 فیلتر نتایج به سال:
Neonatal hypotonia is extremely challenging to diagnose because numerous disorders present similar clinical manifestations. Two panels for diagnosing neonatal hypotonia were developed, which enriches 35 genes corresponding to 61 neonatal hypotonia-related disorders. A cohort of 214 neonates with hypotonia was recruited from 2012 to 2014 in China for this study. Of these subjects, twenty-eight n...
Numerous genetic syndromes present with hypotonia during the neonatal period, including Prader-Willi syndrome, myotonic dystrophy, spinal muscular atrophy, congenital muscular dystrophies, nemaline myopathy, congenital hypomyelinating neuropathy, congenital disorders of glycosylation, and Pompe disease. This article reviews neonatal presentations and appropriate diagnostic tests and examination...
Case presentation: D.H.S., male, 23 months, non-consanguineous parents, born at term, pregnancy and delivery without complications, healthy 7-year-old brother, no cases of epilepsy or developmental delay in the family. From birth he had difficulty breastfeeding hypotonia, 3 months started episodes behavioral arrest, 9 lip cyanosis, hypertonia four limbs lasting less than one minute post-ictal w...
A 33 month old male with a history of prematurity, developmental delay, intractable epilepsy, chronic lung disease, pulmonary hypertension, tracheotomy, hypotonia, VP shunt, and ECMO in infancy presents for resection of a hepatic mass. He arrives to the operating room with a cuffed tracheostomy tube in place (mechanically ventilated on 30% FiO2), and a tunneled left internal jugular single lume...
The term congenital myopathy is applied to muscle disorders presenting with generalized muscle weakness and hypotonia from early infancy with delayed developmental milestones. The congenital myopathies have been classified into various categories based on morphological findings on muscle biopsy. Although the clinical symptoms may seem homogenous, the genetic basis is remarkably variable. This r...
A 6 year old boy presented with mental retardation, hypotonia, abnormal facies, impaired hearing, protuberant eyes, visual impairment, short stature, Axenfeld-Rieger anomaly, a bicuspid aortic valve, and bilateral sensorineural deafness. CT scan of head suggested dysmyelination of the subcortical and periventricular white matter. FISH revealed a subtelomeric microdeletion encompassing both FOXC...
In order to evaluate the incidence and frequency of clinical and laboratory findings in newborns with polycythemia in Tehran a retrospective study was carried out in newborns who were admitted in newborn service in Ali Asghar Children Hospital between years 1988-1995 . During this period 3086 newborns were admitted and 32 patients had central hematocrit above 65% (1.03%) . Of the polycythemic i...
There are currently no objective criteria to evaluate pediatric hypotonia. The purpose of this pilot study was to identify diagnostic criteria for assessing hypotonia in children with neurofibromatosis type 1. Fifty-five subjects between the ages of 1 and 7 years with a diagnosis of neurofibromatosis type 1 were evaluated. A physical therapist recorded a subjective tone assessment and objective...
INTRODUCTION Clostridium botulinum is known to cause descending paralysis in infants throughout the world. METHODOLOGY The subject of this study was a three-month-old Costa Rican boy who was hospitalized because of poor suction and feeding, hypotonia, and constipation. Clinical history and physical examination findings suggested infant botulism. Samples were sent to the Winnipeg Public Health...
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