Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain
Aim To examine the long‐term consequences of glycogen storage in the central nervous system (CNS) for classic infantile Pompe disease using enzyme replacement therapy. Method Using neuropsychological tests and brain magnetic resonance imaging (MRI), we prospectively assessed a cohort of 11 classic i...
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| Published in: | Developmental medicine and child neurology 2018-06, Vol.60 (6), p.579-586 |
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| Main Authors: | , , , , , , , , , |
| Format: | Article |
| Language: | eng |
| Online Access: | Request full text |
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| Summary: | Aim
To examine the long‐term consequences of glycogen storage in the central nervous system (CNS) for classic infantile Pompe disease using enzyme replacement therapy.
Method
Using neuropsychological tests and brain magnetic resonance imaging (MRI), we prospectively assessed a cohort of 11 classic infantile Pompe patients aged up to 17 years.
Results
From approximately age 2 years onwards, brain MRI showed involvement of the periventricular white matter and centrum semiovale. After 8 years of age, additional white‐matter abnormalities occurred in the corpus callosum, internal and external capsule, and subcortical areas. From 11 years of age, white‐matter abnormalities were also found in the brainstem. Although there seemed to be a characteristic pattern of involvement over time, there were considerable variations between patients, reflected by variations in neuropsychological development. Cognitive development ranged from stable and normal to declines that lead to intellectual disabilities.
Interpretation
As treatment enables patients with classic infantile Pompe disease to reach adulthood, white‐matter abnormalities are becoming increasingly evident, affecting the neuropsychological development. Therefore, we advise follow‐up programs are expanded to capture CNS involvement in larger, international patient cohorts, to incorporate our findings in the counselling of parents before the start of treatment, and to include the brain as an additional target in the development of next‐generation therapeutic strategies for classic infantile Pompe disease.
What this paper adds
In our long‐term survivors treated intravenously with enzyme replacement therapy, we found slowly progressive symmetric white‐matter abnormalities.
Cognitive development varied from stable and normal to declines towards intellectual disabilities.
Resumen
Pacientes con la enfermedad de Pompe infantil clásico aproximándose a la adultez: un estudio de cohorte acerca de las consecuencias para el cerebro
Objetivo
Examinar las consecuencias a largo plazo del depósito de glucógeno en el sistema nervioso central (SNC) por la enfermedad de Pompe infantil clásico usando terapia de reemplazo enzimático.
Método
Usando test neuropsicológicos y resonancia nuclear magnética (RMN) de cerebro, nosotros valoramos prospectivamente una cohorte de 11 pacientes con Pompe infantil clásico de hasta 17 años de edad.
Resultados
Desde aproximadamente los dos años de edad en adelante, la RMN de cerebro mostró compromiso |
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| ISSN: | 0012-1622 1469-8749 |