Neuronal Ceroid Lipofuscinosis (Neuronall Intranuclear Inclusion Disease; NIID) 8
General: Probably autosomal recessive.
Ocular: Nystagmus; sluggish pupi 414d34e l reaction; restricted ocular movements; optic disk pallor; loss of nerve fiber around macula; loss of pigment; widespread loss of photoreceptor function with abnormal electroretinogram.
Clinical: Slurred speech; extrapyramidal and lower motor neuron abnormalities; atrophy of skeletal muscles; bronchopneumonia; cerebral deterioration.
Haltia M, et al. Neuronal intranuclear inclusion disease. Acta Ophthalmol (Copenh) 1986; 64:637-643.
Michand J, Gilbert JJ. Multiple systems atrophy with neuronal intranuclear hyaline inclusions: report of a case with light and electron microscopic studies. Acta Ophthalmol (Copenh) 1981; 54: 113-l18.
Patel H, et al. Multiple system atrophy with neuronal intranuclear hyaline inclusions. J Neurol Sci 1985; 67:57-65.
Weleber RG. Retinitis pigmentosa and allied disorders. In: Ryan SJ. ed. Retina. vol. 1. St. Louis: CV Mosby, 1989.
Sturge-Weber Syndrome (Meningocutaneous Syndrome; Vascular Encephalotrigeminal Syndrome; Neuro-Oculocutaneous Angiomatosis; Encephalofacial Angioma [...] |
Progressive Intracranial Arterial Occlusion Syndrome (Taveras Syndrome) General: Children and young adults [...] |
Scheie Syndrome (Mucopolysaccharidosis IS; MPS IS; MPS V; Mucopolysaccharidosis V) General: Autosomal recessive; chondroitin sulfat [...] |
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