Le démence infantile es un término clásico en neurología pediátrica, que ha tratado de hacerse más operativo a través del concepto de PIND (progressive intellectual and neurological deterioration, deterioro intelectual y neurológico progresivo), con el que se trata de englobar todos los síndromes neurodegenerativos de la infancia. Este concepto incluye:
- Presencia de regresión del desarrollo (pérdida de las capacidades intelectuales y aprendizajes ya establecidos),.
- Progresiva (no se autolimita en el tiempo sino que es persistente hasta que el niño pierde todas sus habilidades, hasta las más básicas, como la deambulación o la continencia de esfínteres).
- Generalizada (no afecta a un único dominio cognitivo o del desarrollo).
- Aparición de síntomas y signos neurológicos asociados, evidenciables a través de la exploración clínica (trastorno oculomotor, piramidalismo, ataxia, trastornos del movimiento, epilepsia).
Existen tests de screening dirigido para descartar algunas de estas enfermedades, con el objetivo de obtener un diagnóstico temprano y anticiparse a la evolución catastrófica que presentan.
Critères diagnostiques PIND
Définition de cas – détérioration intellectuelle et neurologique progressive (registre UK PIND).
| Tout enfant (moins de 16 ans au début des symptômes) qui remplit l'ensemble des trois critères suivants : Détérioration progressive depuis plus de 3 mois ; Perte de capacités intellectuelles ou développementales déjà acquises ; et Développement de signes neurologiques anormaux |
| Sauf |
| Perte intellectuelle statique (par exemple après une encéphalite, un traumatisme crânien ou une quasi-noyade) |
| y compris |
| Enfants qui répondent à la définition de cas, même si des diagnostics neurologiques spécifiques ont été posés |
| Troubles métaboliques entraînant une détérioration neurologique |
| Troubles convulsifs s’ils sont associés à une détérioration progressive |
| Enfants chez qui on a diagnostiqué des troubles neurodégénératifs et qui n’ont pas encore développé de symptômes |
| Déclaration limitée aux cas observés au cours du mois dernier, mais incluant ceux dont l'état a commencé plus tôt (c'est-à-dire incluant les « anciens cas » d'enfants suivis s'ils ont été observés au cours de ce mois) |
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1.
Verity C, Baker E, Maunder P, Pal S, Winstone AM. Differential diagnosis of progressive intellectual and neurological deterioration in children. Dev Med Child Neurol [Internet]. 2021 Mar [cited 2022 Oct 15];63(3):287–94. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7891454/
Pseudorégression.
Il est nécessaire de différencier la vraie régression de la pseudorégression.
- Pseudorregresión en las encefalopatías estáticas: Evolución natural de las encefalopatías estáticas, que pueden presentar un empeoramiento relacionado con la etapa del desarrollo postpuberal, como consecuencia de los cambios biológicos que acontecen en el organismo con la llegada de la edad adulta (empeoramiento de la espasticidad).
- Regresión autista. Es característica en los niños con TEA, aparece entre los 18 y los 24 meses, afecta principalmente al lenguaje, pero no presenta una progresión posterior.
- Pseudorregresión psicógena. Se trata de aquella pérdida de hitos del desarrollos ya adquiridos (como el control de esfínteres) habitual en niños pequeños, como consecuencia de cambios en el entorno (nacimiento de un hermano, etc.), transitoria y con un desencadenante emocional identificable.
Maladies causant le PIND
Enfermedades lisosomales.
Enfermedades lisosomales que afectan al transporte y metabolismo de los lípidos.
• Carence combinée en saposine (prosaposine)
• Maladie de Farber
• Maladie de Gaucher (type 2)
• Maladie de Gaucher (type 3)
• Leucodystrophie à cellules globoïdes (maladie de Krabbe)
• Gangliosidose GM1 (types 1 et 2)
• Gangliosidose GM2 – variante AB
• Gangliosidose GM2 (maladie de Tay Sachs)
• Gangliosidose GM2 (maladie de Sandhoff)
• Leucodystrophie métachromatique
• Déficit multiple en sulfatase
• Maladie de Niemann-Pick de type A
• Maladie de Niemann-Pick de type C
• Carence en saposine A
• Carence en saposine B
• Carence en saposine C
Glucoproteinosis.
• Alpha-mannosidose
• Déficit en α-N-acétylgalactosaminidase (maladie de Schindler (type I))
• Aspartylglucosaminurie (AGU)
• Bêta-mannosidose
• Fucosidose (types I et II)
• Galactosialidose (mutation de la cathepsine A)
• Mucolipidose de type I (sialidose de type II)
• Mucolipidose de type II (maladie des cellules I)
• Mucolipidose de type IV
• MPS I (syndrome de Hurler)
• MPS II (syndrome de Hunter)
• MPS III (syndrome de Sanfilippo)
• MPS VII (syndrome de Sly)
Otras enfermedades lisosomales.
• Neuronal ceroid lipofuscinoses (NCLs or Batten disease); 14 subtypes (except those that are adult onset CLN 4, 11, 13 )
• Maladie de stockage de l'acide sialique
Metabolismo de los lípidos.
• Abétalipoprotéinémie
• Cerebrotendinous xanthomatosis
Aminoacidopatías y enfermedades de los ácidos orgánicos.
• Maladie de Canavan
• Déficit en glutathion synthétisé
• Encéphalopathie à la glycine/hyperglycinémie non cétosique
• Déficit en holocarboxylase synthétase
• Déficit en sulfite oxydase
Diagnostic différentiel.
Según los síntomas neurológicos.
Polioencéphalopathies.
Leucoencéphalopathies.
Corencefalopatías.
Espinocerebelopatías.
Según la edad de comienzo.
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1.
Mishra S. Approach to Neurodegenerative Disease in Children: A Short Review. PAPN [Internet]. 2018 July 17 [cited 2021 July 21];1(5). Available from: https://www.lupinepublishers.com/pediatrics-neonatal-journal/fulltext/openaccess-approach-to-neurodegenerative-disease-in-children-a-short-review.ID.000121.php
Informations de sensibilisation.
Démence infantile est un site Internet dédié à la diffusion et à la sensibilisation à ces maladies, dans le but de sensibiliser la population et les autorités sanitaires à l'importance de l'investissement dans la recherche pour faire progresser les traitements de ces maladies dévastatrices.