Alberto Alcantud – Page 21 – Neuropediatoolkit

Rare neurological diseases diagnosable by simple means.

Cholesterol, HDL, LDL, triglycerides: Tangier disease. Abetalipoproteinemia. Smith-Lemli-Opitz, Cerebrotendinous Xanthomatosis and other disorders of cholesterol synthesis. Alpha-fetoprotein: Ataxia-telangiectasia, Ataxia with oculomotor apraxia type 1 and type 2. Uric acid: Lesch-Nyhan. MCV: X-linked alpha-thalassemia mental retardation syndrome. Ferritin. Neuroferritinopathies. TSH, FT4, FT3. Allan-Herndon-Dudley. Benign hereditary chorea. Peripheral blood smear: Acanthocytes: Neuroacanthocytosis. …

Continue reading «Enfermedades raras neurológicas diagnosticables por medios sencillos.»

Exon deletion tool.

This is an online calculator to determine whether a specific intragenic deletion is a candidate for exon-skipping therapy.

Deep intronic mutations.

Massive exome sequencing, as the most cost-efficient strategy in the genetic diagnosis of monogenetic Mendelian diseases, has a limitation imposed by its own design: it does not include the sequencing of intronic regions. It is already possible to carry out massive sequencing of the entire genome, but nevertheless, bioinformatics technologies and scientific accumulation…

Continue reading «Mutaciones intrónicas profundas.»

Gross deletions intragenic (exon-level deletions).

Pediatric myelin oligodendrocyte glycoprotein antibody-associated encephalomyelitis (anti-MOG).

https://pubs.rsna.org/doi/full/10.1148/rg.2020200032

Pulling the rope. What to do when a diagnosis is not reached.

We are evaluating a child with a neurodevelopmental disorder in whom we suspect a genetic cause because they present suggestive findings (e.g., associated multiple congenital malformations). We performed an aCGH which was normal. We also performed a clinical exome (mendeliome) which did not provide information …

Continue reading «Estirando de la cuerda. Cuando el diagnóstico no llega a la primera.»