Create issue ticket

219 Possible Causes for Cerebellar Hypoplasia, Pediatric Disorder, Pendular Nystagmus

  • Dandy-Walker Syndrome

    NORD (National Organization for Rare Disorders). Retrieved 2020-01-06. Yüceer N, Mertol T, Arda N (2007).[] hypoplasia, hydrocephalus, and posterior fossa cyst formation.[] Vermian hypoplasia was present in 36 (88%) cases, while cerebellar hypoplasia was documented in 27 (59%) of these patients.[]

  • Dysequilibrium Syndrome

    Trumler, Evaluation of pediatric cataracts and systemic disorders, Current Opinion in Ophthalmology, 22, 5, (365), (2011). Luis E.[] From Wikipedia, the free encyclopedia Jump to navigation Jump to search VLDLR-associated cerebellar hypoplasia Other names Dysequilibrium syndrome, DES ; Nonprogressive cerebellar[] Deliver high-quality care to your younger patients with expanded pediatrics content.[]

  • Spasmus Nutans

    Ocular motility recordings revealed an unusual latent/manifest latent nystagmus, pendular nystagmus with characteristics of an acquired nystagmus, and uniocular saccades.[] A triad of ocular oscillations, head titubation, and torticollis characterizes spasmus nutans, a rare and idiopathic pediatric disorder.[] However, their development in a patient with cerebellar vermian hypoplasia has not been previously described.[]

  • Pelizaeus-Merzbacher Disease

    Magnetic search-coil oculography of three brothers with clinically diagnosed Pelizaeus-Merzbacher disease disclosed the presence of binocular elliptical pendular nystagmus[] The thoroughly updated Fourth Edition of this acclaimed reference describes and illustrates the full range of pediatric disorders diagnosable by modern neuroimaging.[] Hypoplasia (LCH), Polymicrogyria (PMG), Schizencephaly (SCH), Muscle-Eye-Brain (MEB) Disease, and Walker-Warburg syndrome (WWS), 17p13.3 deletion] Liver conditions (biliary[]

  • Septo-Optic Dysplasia

    Pendular nystagmus and impaired vision were common initial signs. All children had bilateral optic nerve hypoplasia. Neuroradiologic findings were variable.[] Although relatively rare, septo-optic-pituitary dysplasia complex is a highly relevant topic for pediatric neurologists, ophthalmologists, and pediatricians as the identification[] The brain had malformative features of septo-optic dysplasia combined with commissural dysplasia and cerebellar vermian hypoplasia.[]

  • Oculomotor Apraxia

    The older girl at 14 weeks of age showed fine pendular horizontal nystagmus more pronounced on lateral gaze, but despite investigation with cranial MRI no diagnosis was reached[] This book provides an update on pediatric neurological disorders with cerebellar involvement.[] In our personal series of 9 children we have found variable and nonspecific neuroradiological findings, including cerebellar hypoplasia, hypoplasia of corpus callosum and[]

  • Renpenning Syndrome

    Pendular and horizontal nystagmus, head turn, strabismus AD, AR, X-linked Numerous Multiple CONGENITAL STATIONARY NIGHT BLINDNESS Night blindness, myopia AD, AR, X-linked[] One typical immune reaction in infants and children is PANDAS, or Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infection, another disorder[] Associated Conditions: HEREDITARY NEURALGIC AMYOTROPHY HOLOPROSENCEPHALY MECKEL SYNDROME MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE[]

  • Leber Congenital Amaurosis

    Nystagmus (pendular type) and characteristic eye poking are frequently observed in the first months of life (digito-ocular sign of Franceschetti).[] Disorders, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA. 7 College of Veterinary Medicine and Mason Eye Institute, University of Missouri-Columbia, Columbia[] Our patients are the first familial LCA associated with cerebellar vermis hypoplasia, and the disease involving particular multiple systemic anomalies may represent a distinct[]

  • Hereditary Nystagmus

    Nystagmus may also be pendular or, when vision is very poor, of a searching type.[] Scientific articles pertaining to specific disorders are scattered throughout medical subspecialty journals.[] Differential diagnosis for the causes of pathological nystagmus [3] includes: In young kittens Cerebellar hypoplasia/atrophy Wobbly kitten syndrome Chediak-Higashi syndrome[]

  • Laurence Moon Syndrome

    Pediatr Nephrol. 2012 Jan;27(1):7-15.[] There is considerable variation in the extent and severity of the presentation, such as rapid loss of vision was reported by Batta et al [5]and pendular nystagmus reported[] In one specific case, patients of the same family were described to exhibit retinopathy, subaverage intellectual ability, first metacarpal hypoplasia, abnormal development[]

Similar symptoms