Der Demenz im Kindesalter 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.
PIND-Diagnosekriterien
Falldefinition – fortschreitender intellektueller und neurologischer Verfall (britisches PIND-Register).
| Jedes Kind (unter 16 Jahren bei Auftreten der Symptome), das alle der folgenden drei Kriterien erfüllt: Fortschreitende Verschlechterung seit mehr als 3 Monaten; Verlust bereits erreichter intellektueller oder entwicklungsbezogener Fähigkeiten; und Entwicklung abnormaler neurologischer Symptome |
| Ausschließlich |
| Statischer geistiger Verlust (z. B. nach Enzephalitis, Kopfverletzung oder Beinahe-Ertrinken) |
| einschließlich |
| Kinder, die die Falldefinition erfüllen, auch wenn spezifische neurologische Diagnosen gestellt wurden |
| Stoffwechselstörungen, die zu einer neurologischen Verschlechterung führen |
| Anfallsleiden bei fortschreitender Verschlechterung |
| Kinder, bei denen neurodegenerative Erkrankungen diagnostiziert wurden und die noch keine Symptome entwickelt haben |
| Die Meldung ist auf Fälle beschränkt, die im letzten Monat aufgetreten sind, umfasst aber auch Fälle, deren Zustand früher begonnen hat (d. h. einschließlich „alter Fälle“ von Kindern in der Nachbeobachtung, wenn sie in diesem Monat aufgetreten sind). |
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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/
Pseudoregression.
Es ist notwendig, echte Regression von Pseudoregression zu unterscheiden.
- 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.
Krankheiten, die PIND verursachen
Enfermedades lisosomales.
Enfermedades lisosomales que afectan al transporte y metabolismo de los lípidos.
• Kombinierter Saposin-(Prosaposin-)Mangel
• Farber-Krankheit
• Morbus Gaucher (Typ 2)
• Morbus Gaucher (Typ 3)
• Globoidzell-Leukodystrophie (Krabbe-Krankheit)
• GM1-Gangliosidose (Typ 1 und 2)
• GM2-Gangliosidose – AB-Variante
• GM2-Gangliosidose (Tay-Sachs-Krankheit)
• GM2-Gangliosidose (Sandhoff-Krankheit)
• Metachromatische Leukodystrophie
• Multipler Sulfatasemangel
• Niemann-Pick-Krankheit Typ A
• Niemann-Pick-Krankheit Typ C
• Saposin-A-Mangel
• Saposin B-Mangel
• Saposin-C-Mangel
Glucoproteinosis.
• Alpha-Mannosidose
• α-N-Acetylgalactosaminidase-Mangel (Schindler-Krankheit (Typ I))
• Aspartylglucosaminurie (AGU)
• Beta-Mannosidose
• Fucosidose (Typ I und II)
• Galaktosialidose (Cathepsin A-Mutation)
• Mukolipidose Typ I (Sialidose Typ II)
• Mukolipidose Typ II (I-Zell-Krankheit)
• Mukolipidose Typ IV
• MPS I (Hurler-Syndrom)
• MPS II (Hunter-Syndrom)
• MPS III (Sanfilippo-Syndrom)
• MPS VII (Sly-Syndrom)
Otras enfermedades lisosomales.
• Neuronal ceroid lipofuscinoses (NCLs or Batten disease); 14 subtypes (except those that are adult onset CLN 4, 11, 13 )
• Sialinsäure-Speicherkrankheit
Metabolismo de los lípidos.
• Abetalipoproteinämie
• Zerebrotendinöse Xanthomatose
Aminoacidopatías y enfermedades de los ácidos orgánicos.
• Canavan-Krankheit
• Glutathion-Synthetase-Mangel
• Glycin-Enzephalopathie/nichtketotische Hyperglycinämie
• Holocarboxylase-Synthetase-Mangel
• Sulfitoxidase-Mangel
Differentialdiagnose.
Según los síntomas neurológicos.
Polioenzephalopathien.
Leukenzephalopathien.
Corencefalopatías.
Espinocerebelopatías.
Según la edad de comienzo.
19955111
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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
Aufklärungsinformationen.
Demenz im Kindesalter ist eine Website, die sich der Verbreitung und Sensibilisierung dieser Krankheiten widmet, mit dem Ziel, das Bewusstsein der Bevölkerung und der Gesundheitsbehörden für die Bedeutung von Investitionen in die Forschung für den Fortschritt der Behandlung dieser verheerenden Krankheiten zu schärfen.