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Neuronal ceroid lipofuscinosis (neuronal intranuclear inclusion disease; niid) 8


Neuronal Ceroid Lipofuscinosis (Neuronall Intranuclear Inclusion Disease; NIID) 8

General: Probably autosomal recessive.

Ocular: Nystagmus; sluggish pupil 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.




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