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787 Possible Causes for Cerebellar Ataxia, Pediatric Disorder, Progressive Loss of Vision

  • Infantile Neuronal Ceroid Lipofuscinosis

    We suggest CLN genes should be considered in the molecular analyses of patients presenting with adult-onset autosomal recessive cerebellar ataxia.[] Research Article - Current Pediatric Research (2017) Volume 21, Issue 2 The Neuronal Ceroid-Lipofuscinoses (NCL) is a group of rare neurodegenerative disorders characterized[] […] degeneration of movement 0002333 Myoclonus 0001336 Progressive visual loss Progressive loss of vision Progressive vision loss Progressive visual impairment Slowly progressive[]

  • Leptomeningeal Metastasis

    A year thereafter, she was admitted again with confusion and ataxia, at which time T2-weighted images revealed an impression of widened cerebellar sulci ( Fig 2A ).[] Use of computer tablets or paper notes may be indicated if the patient has hearing loss; voice-activated computer or cell phone aids may help if the patient has vision loss[] […] signs or ataxia 15 to 25 Bowel or bladder dysfunction 15 to 20 Spells or seizures 16 Miscellaneous* 5 to 15 The brain is affected in approximately one half of patients with[]

  • MERRF Syndrome

    Abstract Myoclonic epilepsy and ragged-red fibers (MERRF) syndrome is a rare disorder characterized by myoclonus, muscle weakness, cerebellar ataxia, heart conduction block[] Skeletal muscle mitochondrial defects in nonspecific neurological disorders. Pediatr Neurol. 1999 ;21: 538 – 542. Google Scholar Crossref Medline ISI 5.[] Definition and clinical findings: A mitochondrial disorder that causes painless progressive loss of central vision.[]

  • Friedreich Ataxia

    Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia.[] Leigh syndrome (subacute necrotizing encephalomyopathy) is a rare, highly morbid and fatal pediatric disorder that results in severe neurological and neuromuscular dysfunction[] Friedreich ataxia (FRDA) is typically characterized by slowly progressive ataxia, depressed tendon reflexes, dysarthria, pyramidal signs, and loss of position and vibration[]

  • Gordon-Holmes Syndrome

    Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal[] […] inherited disorders and cancer genetics, and on other pediatric adrenal and pituitary disorders.[] Progressive loss of vision, dyschromatopsia, and photophobia are the primary ocular symptoms. Night blindness and constricted visual fields are noted by some patients.[]

  • Kearns-Sayre Syndrome

    In addition to the main clinical symptoms, at least one of the following is also often present: heart block, cerebellar ataxia, or cerebrospinal fluid (CSF) protein content[] […] symptoms in infants, children, and young adults through images of common and unusual presenting features for over 300 pediatric disorders.[] loss, or other neurological abnormalities) MELAS is a progressive neurodegenerative disorder with typical onset between the ages of 2 and 15, although it may occur in infancy[]

  • Refsum Disease

    Major diagnostic clinical findings include retinitis pigmentosa, peripheral polyneuropathy, cerebellar ataxia, increased cerebrospinal fluid protein without pleocytosis, nerve[] Daniel Hohl and Mary Williams, Mendelian Disorders of Cornification (MEDOC): The Ichthyoses, Harper's Textbook of Pediatric Dermatology, (121.1-121.70), (2011).[] Progressive vision loss from RP begins when harmful levels of phytanic acid collect beneath the retina.[]

  • Camurati-Engelmann Syndrome

    Rare signs include sensory loss, slurred speech, dysphagia, cerebellar ataxia, anorexia, decreased subcutaneous tissue, hyperhidrosis of the extremities, delayed dentition[] Pediatrics 1984 ; 74 : 399 –405. 3 Crisp AJ, Brenton DP. Engelmann's disease of bone—a systemic disorder?[] […] intracranial volume loss combined with elevated ICP. 18 , 19 , 81 , 82 All 5 patients experienced severe headaches and vision changes, 4 had progressive imbalance, 18 , 19[]

  • Von Hippel-Lindau Disease

    A 60-year-old woman presented with a cerebellar solid tumor manifesting as headache of 4 months, progressive vomiting, and ataxia of half a month.[] Praticò and Agata Polizzi, Neurocutaneous Disorders, Textbook of Pediatric Neurosurgery, 10.1007/978-3-319-31512-6_42-1, (1-49), (2018).[] , structural disruption of the retina and globe, and loss of the eye. 3 Treatment, especially at an early stage for a small RCH, may limit vision loss. 4, 5 Because RCHs may[]

  • Abetalipoproteinemia

    Clinical findings Cerebellar ataxia, peripheral neuropathy, retinitis pigmentosa, fat malabsorption, steatorrhoea, chronic diarrhoea, anaemia, failure to thrive.[] Adds five new chapters including "Screening and Surveillance of the GI Tract", "Congenital and Developmental Disorders of the GI Tract", "Pediatric Enteropathies of the GI[] Untreated individuals may develop atypical pigmentation of the retina that may present with progressive loss of night vision and/or color vision in adulthood.[]

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