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Orthopaedics and musculoskeletal system
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
14.28. A boy aged 2 years presents with a history of delayed milestones, muscular hypotonia and depressed tendon reflexes. Which of the following statements is/are true?A normal serum creatine kinase level (no technical error) excludes the possibility of Duchenne type muscular dystrophy.Muscular hypotonia excludes the possibility of cerebral palsy.Fascicuiation of the tongue would suggest peripheral neuropathy.Spinal muscular atrophy is a possible diagnosis.Electromyography would be more useful in diagnosing a lower motor neurone cause than a cerebral cause for his problem.
Mitochondrial Pathologies and Their Neuromuscular Manifestations
Published in Shamim I. Ahmad, Handbook of Mitochondrial Dysfunction, 2019
Carlos Ortez, Andrés Nascimento
Myopathy with lactic acidosis and sideroblastic anemia (MLASA) may be caused by two genes affecting protein translation, YARS2 associated with an earlier age of onset (infancy–childhood)75 than the one generally reported for PUS1 (childhood–adolescence)76. Severity is variable even within affected families, with additional features like delayed milestones, mental retardation, ptosis, short stature, dysphagia, and respiratory failure. Muscle biopsy shows RC defect and histological mitochondrial changes only in YARS2 involvement77.
Neuroimaging
Published in Sarah McWilliams, Practical Radiological Anatomy, 2011
An infant presents with fits and delayed milestones. An MRI is requested. MRI is superior in the investigation of congenital and paediatric abnormalities and avoids radiation. Infants may not need a general anaesthetic if recently fed.
Investigation of CEP290 genotype-phenotype correlations in a patient with retinitis pigmentosa, infertility, end-stage renal disease, and a novel mutation
Published in Ophthalmic Genetics, 2020
Madeline Williamson, Elias Traboulsi, Meghan DeBenedictis
He also had a history of juvenile nephronophthisis which had progressed to end stage renal disease resulting in a left kidney transplant at age 14 years. Other health history included cholecystectomy at age 15 years. His clinical diagnosis was revised from Leber congenital amaurosis to Senior Loken syndrome at that time. By age 19 he had lost the entirety of his peripheral vision. At age 20, he was diagnosed with new-onset juvenile myoclonic seizures that have since been well-controlled with anticonvulsants. Around the time of onset of his seizures, visual acuity was 20/100 in the right eye and 20/170 in the left eye, and his fundus exam findings included mild optic nerve pallor in both eyes and stable pigmentary changes without evidence of cystoid macular edema. Developmentally, the patient had never exhibited signs of delayed milestones or intellectual disability. He graduated from high school, attended college, and was able to work until his vision deficits advanced. An MRI done at the time of his seizure onset was unremarkable and did not show evidence of a molar tooth sign or other abnormalities. At age 28 he required surgical retrieval and reattachment of a slipped right medial rectus muscle.
Neuropsychological Risk Factors to Consider When Assessing for Sexually Abusive Youth
Published in Journal of Child Sexual Abuse, 2018
Trisha M. Karsten, Rachyll Dempsey
After conducting a thorough record review, interview, collateral interviews, and mental status exam, clinicians and supervisors should be aware of several factors, including: (a) developmental history (e.g., in utero exposure to substances or toxins, prenatal or postnatal trauma, and delayed milestones); (b) childhood history of abuse, trauma, or neglect; (c) history of special education, failure to meet educational milestones, or school failure; (d) head injuries, losses of consciousness, or major illnesses/diseases that can affect development; (e) discrepancies between records, interview, and collateral sources; (f) behavioral observations that would suggest forgetfulness, poor attention/distractibility, impairment in abstract thinking/reasoning, impulsivity, and labile emotions; and (g) lower scores found on screening measures. These factors are consistent with potential neuropsychological deficits identified in sexual offending youth described herein. If any combination of the aforementioned factors is present, specialized testing would be beneficial to further assess sexually abusive youth.
Vision Impairment among Children in South India: Results from a Large-Scale School Eye Screening
Published in Ophthalmic Epidemiology, 2023
Subhiksha Rangavittal, Sruthi Sree Krishnamurthy, Ambika Chandrasekar, Anuradha Narayanan
Causes of VI were classified based on refractive errors and other ocular conditions. Ocular conditions were further categorized according to the location of disorders. Corneal scar, opacity, ulcers, dystrophies, corneal tear repair, and kerataconus suspects were classified under corneal problems. Lens opacity or cataract, post-operative lens-related abnormalities, aphakia were classified under cataract and related complications. Ocular prosthesis, chalazion, stye, ptosis, lid and lashes related infections, and abnormalities were classified under oculoplasty and ocular prosthesis. Retinal scar, vitreous floaters, and known case of retinal problems, anisocoria, nystagmus, and Relative Afferent Pupillary Defects were classified under retina and neuro-related problems. Microcornea, coloboma and micropthalmus were classified under anatomical developmental disorders. Other classification includes known cases of glaucoma and glaucoma suspects due to injury-related secondary causes. Known cases of uvea-related conditions like occlusio-pupillae were classified under inflammatory conditions and children with delayed milestones were classified as children with disability. Other classifications included vernal kerato conjunctivitis and high myopia. Amblyopia was defined as the BCVA less than 6/9 in any eye and a 2 line difference between the two eyes.16,17It was further classified as strabismic amblyopia if the child presented with strabismus13and refractive amblyopia, in the presence of high refractive error or anisometropia. If no reason could be attributed for poor vision they were grouped under ‘unidentified cause’.