S B Sánchez Marco1, J López Pisón2, C Calvo Escribano3, I González Viejo4, M D Miramar Gallart5, P Samper Villagrasa6. 1. Unidad de Neurología Pediátrica, Servicio de Pediatría, Hospital Infantil Universitario Miguel Servet, Zaragoza, España. Electronic address: sbsanchez@salud.aragon.es. 2. Unidad de Neurología Pediátrica, Servicio de Pediatría, Hospital Infantil Universitario Miguel Servet, Zaragoza, España. 3. Unidad de Oncohematología Pediátrica, Servicio de Pediatría, Hospital Infantil Universitario Miguel Servet, Zaragoza, España. 4. Servicio de Oftalmología, Hospital Infantil Universitario Miguel Servet, Hospital Infantil Universitario Miguel Servet, Zaragoza, España. 5. Servicio de Genética Clínica, Hospital Universitario Miguel Servet, Zaragoza, España. 6. Departamento de Pediatría, Radiología y Medicina Física, Facultad de Medicina de Zaragoza, Universidad de Zaragoza, Zaragoza, España.
Abstract
INTRODUCTION: Neurofibromatosis type 1 (NF1) is a progressive multisystem disorder following an autosomal dominant inheritance pattern that presents with multiple neurological manifestations. METHODS: We reviewed medical histories of patients with NF1 followed up at our hospital's paediatric neurology department from May 1990 to 31 December 2018. We collected data on neurological symptoms. RESULTS: A total of 128 patients with NF1 were identified. Mean age (SD) at NF1 diagnosis was 4.43 (3.38) years (range, 0.5-14.5 years). There was a slight female predominance (53.1%). Macrocephaly (head circumference over 2 SDs above average for age) was present in 37.5% of cases. Attention-deficit/hyperactivity disorder was recorded in 28.9% of patients (37): combined type in 20 patients, predominantly inattentive in 15, and predominantly impulsive/hyperactive in 2. Other manifestations included headache (18.6%), cognitive impairment (7.8%), motor deficit (6.2%), and epilepsy (4.68%). Brain MRI was performed in 85 patients, revealing T2-weighted hyperintensities in the basal ganglia and/or cerebellum in 60 patients (70.5%), Chiari malformation type 1 in 4 cases, and arachnoid cysts in 3. Optic nerve gliomas were identified by MRI in 22 patients (25.8%). Other MRI findings included plexiform neurofibromas (9.3%) and central nervous system gliomas (3.1%). CONCLUSIONS: The neurological manifestations identified in our sample are consistent with those reported in the literature. Effective transfer strategies from paediatric neurology departments and subsequent clinical follow-up by adult neurology departments are needed to prevent loss to follow-up in adulthood.
INTRODUCTION:Neurofibromatosis type 1 (NF1) is a progressive multisystem disorder following an autosomal dominant inheritance pattern that presents with multiple neurological manifestations. METHODS: We reviewed medical histories of patients with NF1 followed up at our hospital's paediatric neurology department from May 1990 to 31 December 2018. We collected data on neurological symptoms. RESULTS: A total of 128 patients with NF1 were identified. Mean age (SD) at NF1 diagnosis was 4.43 (3.38) years (range, 0.5-14.5 years). There was a slight female predominance (53.1%). Macrocephaly (head circumference over 2 SDs above average for age) was present in 37.5% of cases. Attention-deficit/hyperactivity disorder was recorded in 28.9% of patients (37): combined type in 20 patients, predominantly inattentive in 15, and predominantly impulsive/hyperactive in 2. Other manifestations included headache (18.6%), cognitive impairment (7.8%), motor deficit (6.2%), and epilepsy (4.68%). Brain MRI was performed in 85 patients, revealing T2-weighted hyperintensities in the basal ganglia and/or cerebellum in 60 patients (70.5%), Chiari malformation type 1 in 4 cases, and arachnoid cysts in 3. Optic nerve gliomas were identified by MRI in 22 patients (25.8%). Other MRI findings included plexiform neurofibromas (9.3%) and central nervous system gliomas (3.1%). CONCLUSIONS: The neurological manifestations identified in our sample are consistent with those reported in the literature. Effective transfer strategies from paediatric neurology departments and subsequent clinical follow-up by adult neurology departments are needed to prevent loss to follow-up in adulthood.
Authors: Diogo Lisbôa Basto; Gustavo de Souza Vieira; Raquel M Andrade-Losso; Paula Nascimento Almeida; Vincent M Riccardi; Rafaela Elvira Rozza-de-Menezes; Karin Soares Cunha Journal: Orphanet J Rare Dis Date: 2022-09-05 Impact factor: 4.303