Children with cataract and chronic diarrhoea: cerebrotendinous xanthomatosis.

Contains fulltext : 79979.pdf (publisher's version ) (Closed access

Neuro-ophthalmological emergencies: which ocular signs or symptoms for which diseases?

There are five possible ocular signs or complaints of a life or sight threatening neuro-ophthalmological condition: diplopia, isolated anisocoria, transient visual loss, severe pain in head or neck (with or without photophobia) and oscillopsia/nystagmus. In this review, the ocular signs and symptoms of neuro-ophthalmological emergencies are described together with their practical work-up and the risks associated with missing the diagnosis. Concerning diplopia, the associated signs pointing to a possible threatening condition are emphasized. Six focus points resuming core messages are displayed throughout this review.JOURNAL ARTICLESCOPUS: re.jinfo:eu-repo/semantics/publishe

Cerebrotendinous xanthomatosis: report of two Brazilian brothers.

Contains fulltext : 58819.pdf (publisher's version ) (Open Access)Cerebrotendinous xanthomatosis is a treatable rare autossomal recessive disease characterized by lipid storage secondary to a sterol 27-hydroxylase deficiency in the formation of cholic and chenodeoxycholic acids. We describe two Brazilian brothers with cognitive impairement and chronic diarrhea. One of them also presents bilateral cataracts. Neurological findings were progressive walking deficit, limb ataxia and pyramidal signs. Both patients had bilateral Achilles tendon xanthomata. Magnetic resonance image showed signal alterations in cerebellar hemispheres. We describe these cases with molecular genetic analysis confirming diagnosis and comparing with previous literature. The CYP27A1 gene study showed a C1187T mutation on exon 6