Lipofuscinosis neuronal ceroidea: algoritmo diagnóstico y descripción clínica de las variantes infantil tardía finlandesa (CLN5) y turca (CLN7) / Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the variants late infantile Finnish (CLN5) and Turkish (CLN7) Introduction. The neuronal ceroid lipofuscinosis

Introducción. Las lipofuscinosis neuronales ceroideas (LNC) se clasifican, según la edad de inicio de la sintomatología, en cuatro formas clínicas principales en la infancia: infantil, infantil tardía, juvenil y congénita (CLN1, CLN2, CLN3 y CLN10).Las formas variantes infantiles tardías (CLN5, CLN6, CLN7 y CLN8) se caracterizan por una gran variabilidad fenotípica y la mayoría de los pacientes proceden de Finlandia y Turquía (variante finlandesa, CLN5, y turca, CLN7). Casos clínicos. Se describen tres pacientes con la variante finlandesa y un cuarto paciente con la variante turca, procedentes de diferentes familias. Se propone un algoritmo que facilite el diagnóstico de este grupo de enfermedades poco prevalentes. Las pacientes con la variante finlandesa iniciaron un trastorno de conducta entre los 2,6 y 4,6 años seguido de dificultades de aprendizaje y déficit visual a los 6 años de edad. Las crisis epilépticas generalizadas y mioclonoatónicas aparecieron a los 7 años con sacudidas mioclónicas posteriormente. Las pacientes desarrollaron ataxia y ceguera a los 9años, y manifestaron una importante discapacidad a los 11 años de edad. El paciente con la variante turca presentó epilepsia refractaria desde los 2 años de edad seguido de un rápido deterioro con ataxia, pérdida de la deambulación en los dos a tres años siguientes y estado vegetativo a los 11 años.Conclusiones. El espectro de las formas variantes de LNC presenta una distribución geográfica cada vez más amplia. Nuestro estudio aporta tres nuevas mutaciones en el gen CLN5 y propone un protocolo de diagnóstico que facilite los estudios de correlación genotipo-fenotipo (AU)

Introduction. The neuronal ceroid lipofuscinosis are classified based on age at onset into four main clinical forms in childhood: infantile, late infantile, juvenile and congenital (CLN1, CLN2, CLN3 and CLN10). The variant late infantile forms (CLN5, CLN6, CLN7 and CLN8) are characterized by a wide variability of the clinical phenotypes and the most patients are originated from Finland and Turkey (Finnish, CLN5, and Turkish, CLN7 variants). Case reports. We describe three unrelated patients with Finnish variant and another patient with Turkish variant. We describe an algorithm to facility the diagnosis of these low prevalence diseases. Patients with Finnish variant started withbehaviour disorder between 2.6 and 4.6 years of age followed by learning difficulties and visual failure at an age of 6 years. Generalised tonic-clonic and myoclonic seizures were observed at 7 years of age with myoclonic jerks later on. Patients developed ataxia and blindness within 9 years and increasingly disability at 11 years of age. The patient with Turkish variant started with refractory epilepsy at age of 2, followed by a severe neurodegeneration manifested by ataxia,loss of walking ability within 2-3 years and vegetative state at 11 years of age.Conclusions. The clinical spectrum of the variant late infantile forms shows a wide geographical distribution. We report three novel mutations in the CLN5 gene and a diagnostic algorithm to facility the correlation genotype-phenotype studies (AU)

[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile]. / Lipofuscinosis neuronal ceroidea: algoritmo diagnóstico y descripción clínica de las variantes infantil tardía finlandesa (CLN5) y turca (CLN7).

INTRODUCTION: The neuronal ceroid lipofuscinosis are classified based on age at onset into four main clinical forms in child-hood: infantile, late infantile, juvenile and congenital (CLN1, CLN2, CLN3 and CLN10). The variant late infantile forms (CLN5, CLN6, CLN7 and CLN8) are characterized by a wide variability of the clinical phenotypes and the most patients are originated from Finland and Turkey (Finnish, CLN5, and Turkish, CLN7 variants). CASE REPORTS: We describe three unrelated patients with Finnish variant and another patient with Turkish variant. We describe an algorithm to facility the diagnosis of these low prevalence diseases. Patients with Finnish variant started with behaviour disorder between 2.6 and 4.6 years of age followed by learning difficulties and visual failure at an age of 6 years. Generalised tonic-clonic and myoclonic seizures were observed at 7 years of age with myoclonic jerks later on. Patients developed ataxia and blindness within 9 years and increasingly disability at 11 years of age. The patient with Turkish variant started with refractory epilepsy at age of 2, followed by a severe neurodegeneration manifested by ataxia, loss of walking ability within 2-3 years and vegetative state at 11 years of age. CONCLUSIONS: The clinical spectrum of the variant late infantile forms shows a wide geographical distribution. We report three novel mutations in the CLN5 gene and a diagnostic algorithm to facility the correlation genotype-phenotype studies.