Cockayne syndrome

Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.

Peripheral neuropathy

Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.

Total: 4

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PMID (PMCID)
29422660	MALE	Infant
	Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome.
	Schalk A, Greff G, Drouot N, Obringer C, Dollfus H, Laugel V, Chelly J, Calmels N. Eur J Hum Genet. 2018;26(4):527-536.
	Cockayne syndrome is an autosomal recessive multisystem disorder characterized by intellectual disability, microcephaly, severe growth failure, sensory impairment, peripheral neuropathy, and cutaneous sensitivity.
1659795	MALE	Infant
	[Peripheral neuropathy as a presenting form of Cockayne syndrome].
	Campistol Plana J, Riverola de Veciana A, Poo Arguelles P, Colomer Oferil J, Moreno Hernandez J. Arch Neurobiol (Madr). 1991;54(4):141-5.
	[Peripheral neuropathy as a presenting form of Cockayne syndrome].
1659795	MALE	Infant
	[Peripheral neuropathy as a presenting form of Cockayne syndrome].
	Campistol Plana J, Riverola de Veciana A, Poo Arguelles P, Colomer Oferil J, Moreno Hernandez J. Arch Neurobiol (Madr). 1991;54(4):141-5.
	We report a clinical observation of an infant aged 5 months with Cockayne syndrome whose symptomatology included failure to thrive, microcephaly, peripheral neuropathy and elevated level of protein in CSF.
4031953	MIXED_SAMPLE	Child
	Cockayne syndrome: clinicopathologic and tissue culture studies of affected siblings.
	Leech RW, Brumback RA, Miller RH, Otsuka F, Tarone RE, Robbins JH. J Neuropathol Exp Neurol. 1985;44(5):507-19.
	Two siblings with Cockayne syndrome (CS) had extremely severe and early onset cachectic dwarfism, developmental delay, cataracts, microcephaly, peripheral neuropathy, and spastic quadriplegia.