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Article ; Online: Pseudotumor cerebri in the paediatric population: clinical features, treatment and prognosis.

Labella Álvarez, F / Fernández-Ramos, J A / Camino León, R / Ibarra de la Rosa, E / López Laso, E

2024 Volume 39, Issue 2, Page(s) 105–116

Abstract: Introduction: Pseudotumor cerebri (PC) in prepubertal patients displays certain characteristics that differentiate it from its presentation at the postpubertal stage. The aim of this study is to describe the characteristics of paediatric patients ... ...

Abstract	Introduction: Pseudotumor cerebri (PC) in prepubertal patients displays certain characteristics that differentiate it from its presentation at the postpubertal stage. The aim of this study is to describe the characteristics of paediatric patients diagnosed with PC at our centre and to compare them according to their pubertal status. Patients and methods: We included patients aged between 1 and 18 years who were diagnosed with PC in a tertiary-level hospital between 2006 and 2019 and who met the updated diagnostic criteria for PC. They were classified according to body weight and pubertal status. Subsequently, we analysed results from lumbar punctures, neuroimaging studies, ophthalmological assessments, and treatments received during follow-up. Results: We included 28 patients, of whom 22 were of prepubertal age and 6 were of postpubertal age. The mean age (standard deviation) was 9.04 (2.86) years. Among the postpubertal patients, 83.3% were boys, 66.7% of whom presented overweight/obesity. In the group of prepubertal patients, 27% were boys, 31.8% of whom were overweight. The most frequent symptoms were headache (89.9%) and blurred vision (42.9%). All patients presented papilloedema, and 21.4% manifested sixth nerve palsy. Possible triggers were identified in 28.6% of cases. Nineteen percent of patients presented clinical recurrence, all of whom were prepubertal patients. Complete clinical resolution was achieved in 55.6% of patients. Conclusion: Prepubertal patients with PC show lower prevalence of obesity, higher prevalence of secondary aetiologies, and higher recurrence rates than postpubertal patients.
MeSH term(s)	Male ; Humans ; Child ; Infant ; Child, Preschool ; Adolescent ; Female ; Pseudotumor Cerebri/diagnosis ; Pseudotumor Cerebri/epidemiology ; Overweight/complications ; Retrospective Studies ; Prognosis ; Obesity/complications
Language	English
Publishing date	2024-01-23
Publishing country	Spain
Document type	Journal Article
ZDB-ID	2654369-2
ISSN	2173-5808 ; 2173-5808
ISSN (online)	2173-5808
ISSN	2173-5808
DOI	10.1016/j.nrleng.2024.01.004
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Article ; Online: Pseudotumor cerebri in the paediatric population: clinical features, treatment and prognosis.

Labella Álvarez, F / Fernández-Ramos, J A / Camino León, R / Ibarra de la Rosa, E / López Laso, E

Neurologia

2021

Title translation	Síndrome de pseudotumor cerebri en la población pediátrica: características clínicas, tratamiento y pronóstico.
Abstract	Introduction: Pseudotumor cerebri (PC) in prepubertal patients displays certain characteristics that differentiate it from its presentation at the postpubertal stage. The aim of this study is to describe the characteristics of paediatric patients diagnosed with PC at our centre and to compare them according to their pubertal status. Patients and methods: We included patients aged between 1 and 18 years who were diagnosed with PC in a tertiary-level hospital between 2006 and 2019 and who met the updated diagnostic criteria for PC. They were classified according to body weight and pubertal status. Subsequently, we analysed results from lumbar punctures, neuroimaging studies, ophthalmological assessments, and treatments received during follow-up. Results: We included 28 patients, of whom 22 were of prepubertal age and 6 were of postpubertal age. The mean age (standard deviation) was 9.04 (2.86) years. Among the postpubertal patients, 83.3% were boys, 66.7% of whom presented overweight/obesity. In the group of prepubertal patients, 27% were boys, 31.8% of whom were overweight. The most frequent symptoms were headache (89.9%) and blurred vision (42.9%). All patients presented papilloedema, and 21.4% manifested sixth nerve palsy. Possible triggers were identified in 28.6% of cases. Nineteen percent of patients presented clinical recurrence, all of whom were prepubertal patients. Complete clinical resolution was achieved in 55.6% of patients. Conclusion: Prepubertal patients with PC show lower prevalence of obesity, higher prevalence of secondary aetiologies, and higher recurrence rates than postpubertal patients.
Language	Spanish
Publishing date	2021-05-31
Publishing country	Spain
Document type	Journal Article
ZDB-ID	2654369-2
ISSN	2173-5808 ; 2173-5808
ISSN (online)	2173-5808
ISSN	2173-5808
DOI	10.1016/j.nrl.2021.04.013
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Article ; Online: Microcefalia primaria hereditaria de tipo 5. No todo es virus del Zika.

Gascon-Jimenez, F J / Gallardo-Hernandez, F L / Fernandez-Ramos, J A / Aguilar-Quintero, M / Camino-Leon, R / Lopez-Laso, E

Revista de neurologia

2018 Volume 66, Issue 3, Page(s) 101–102

Title translation	Hereditary primary microcephaly type 5. Not everything is Zika virus.
MeSH term(s)	Diagnosis, Differential ; Humans ; Infant, Newborn ; Male ; Microcephaly/diagnosis ; Zika Virus Infection/diagnosis
Language	Spanish
Publishing date	2018-01-09
Publishing country	Spain
Document type	Case Reports ; Letter
ZDB-ID	1468278-3
ISSN	1576-6578 ; 0210-0010
ISSN (online)	1576-6578
ISSN	0210-0010
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Article ; Online: Neuropatia craneal multiple: descripcion de tres pacientes pediatricos.

Sancho-Montero, N / Fernandez-Ramos, J A / Caballero-Rodriguez, C / Camino-Leon, R / Lopez-Laso, E

Revista de neurologia

2018 Volume 67, Issue 8, Page(s) 321–323

Title translation	Multiple cranial neuropathy: a case report of three paediatric patients.
MeSH term(s)	Child ; Cranial Nerve Diseases/diagnosis ; Female ; Humans ; Male
Language	Spanish
Publishing date	2018-10-19
Publishing country	Spain
Document type	Case Reports ; Letter
ZDB-ID	1468278-3
ISSN	1576-6578 ; 0210-0010
ISSN (online)	1576-6578
ISSN	0210-0010
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Article ; Online: Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes.

Fernández-Ramos, Joaquín A / De la Torre-Aguilar, María José / Quintáns, Beatriz / Pérez-Navero, Juan Luis / Beyer, Katrin / López-Laso, Eduardo

Parkinsonism & related disorders

2021 Volume 94, Page(s) 67–78

Abstract: Introduction: In 2009, we described a possible founder effect of autosomal dominant Segawa disease in Córdoba (Spain) due to mutation c.265C>T (p. Q89*) in the GCH1 gene. We present a retrospective multicentre study aimed at improving our knowledge of ... ...

Abstract	Introduction: In 2009, we described a possible founder effect of autosomal dominant Segawa disease in Córdoba (Spain) due to mutation c.265C>T (p. Q89) in the GCH1 gene. We present a retrospective multicentre study aimed at improving our knowledge of Segawa disease in Spain and providing a detailed phenotypic-genotypic description of patients. Methods:* Clinical-genetic information were obtained from standardized questionnaires that were completed by the neurologists attending children and/or adults from 16 Spanish hospitals. Results: Eighty subjects belonging to 24 pedigrees had heterozygous mutations in GCH1. Seven genetic variants have been described only in our cohort of patients, 5 of which are novel mutations. Five families not previously described with p. Q89* were detected in Andalusia due to a possible founder effect. The median latency to diagnosis was 5 years (IQR 0-16). The most frequent signs and/or symptoms were lower limb dystonia (38/56, 67.8%, p = 0.008) and diurnal fluctuations (38/56, 67.8%, p = 0.008). Diurnal fluctuations were not present in the phenotypes other than dystonia. Fifty-three of 56 symptomatic patients were treated with a levodopa/decarboxylase inhibitor for (mean ± SD) 12.4 ± 8.12 years, with 81% at doses lower than 350 mg/day (≤5 mg/kg/d in children). Eleven of 53 (20%) patients had nonresponsive symptoms that affected daily life activities. Dyskinesias (4 subjects) were the most prominent adverse effects. Conclusion: This study identifies 5 novel mutations and supports the hypothesis of a founder effect of p. Q89* in Andalusia. New insights are provided for the phenotypes and long-term treatment responses, which may improve early recognition and therapeutic management.
MeSH term(s)	Dystonic Disorders/genetics ; GTP Cyclohydrolase/genetics ; Humans ; Levodopa/therapeutic use ; Retrospective Studies ; Spain ; Treatment Outcome
Chemical Substances	Levodopa (46627O600J) ; GTP Cyclohydrolase (EC 3.5.4.16)
Language	English
Publishing date	2021-11-25
Publishing country	England
Document type	Journal Article ; Multicenter Study
ZDB-ID	1311489-x
ISSN	1873-5126 ; 1353-8020
ISSN (online)	1873-5126
ISSN	1353-8020
DOI	10.1016/j.parkreldis.2021.11.014
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Zs.A 4553: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency.

Pata, Silvia / Flores-Rojas, Katherine / Gil, Angel / López-Laso, Eduardo / Marti-Sánchez, Laura / Baide-Mairena, Heydi / Pérez-Dueñas, Belén / Gil-Campos, Mercedes

Orphanet journal of rare diseases

2022 Volume 17, Issue 1, Page(s) 340

Abstract: Background: Enoyl-CoA hydratase short-chain 1 (ECHS1) is a key mitochondrial enzyme that is involved in valine catabolism and fatty acid beta-oxidation. Mutations in the ECHS1 gene lead to enzymatic deficiency, resulting in the accumulation of certain ... ...

Abstract	Background: Enoyl-CoA hydratase short-chain 1 (ECHS1) is a key mitochondrial enzyme that is involved in valine catabolism and fatty acid beta-oxidation. Mutations in the ECHS1 gene lead to enzymatic deficiency, resulting in the accumulation of certain intermediates from the valine catabolism pathway. This disrupts the pyruvate dehydrogenase complex and the mitochondrial respiratory chain, with consequent cellular damage. Patients present with a variable age of onset and a wide spectrum of clinical features. The Leigh syndrome phenotype is the most frequently reported form of the disease. Herein, we report a case of a male with ECHS1 deficiency who was diagnosed at 8 years of age. He presented severe dystonia, hyperlordosis, moderate to severe kyphoscoliosis, great difficulty in walking, and severe dysarthria. A valine-restricted and total fat-restricted diet was considered as a therapeutic option after the genetic diagnosis. An available formula that restricted branched-chain amino acids and especially restricted valine was used. We also restricted animal protein intake and provided a low-fat diet that was particularly low in dairy fat. Results: This protein- and fat-restricted diet was initiated with adequate tolerance and adherence. After three years, the patient noticed an improvement in dystonia, especially in walking. He currently requires minimal support to walk or stand. Therefore, he has enhanced his autonomy to go to school or establish a career for himself. His quality of life and motivation for treatment have greatly increased. Conclusions: There is still a substantial lack of knowledge about this rare disorder, especially knowledge about future effective treatments. However, early diagnosis and treatment with a valine- and fat-restricted diet, particularly dairy fat-restricted diet, appeared to limit disease progression in this patient with ECHS1 deficiency.
MeSH term(s)	Animals ; Diet, Fat-Restricted ; Dystonia ; Enoyl-CoA Hydratase/genetics ; Enoyl-CoA Hydratase/metabolism ; Humans ; Male ; Quality of Life ; Valine
Chemical Substances	Enoyl-CoA Hydratase (EC 4.2.1.17) ; Valine (HG18B9YRS7)
Language	English
Publishing date	2022-09-05
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2225857-7
ISSN	1750-1172 ; 1750-1172
ISSN (online)	1750-1172
ISSN	1750-1172
DOI	10.1186/s13023-022-02468-6
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Article ; Online: First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.

Rodríguez-García, María Elena / Cotrina-Vinagre, Francisco Javier / Bellusci, Marcello / Hernández-Sánchez, Laura / de Aragón, Ana Martínez / López-Laso, Eduardo / Martín-Hernández, Elena / Martínez-Azorín, Francisco

Human mutation

2022 Volume 43, Issue 10, Page(s) 1361–1367

Abstract: We report the clinical and genetic features of a Caucasian girl who presented a severe neurodevelopmental disorder with drug-resistant epilepsy, hypotonia, severe gastro-esophageal reflux and brain magnetic resonance imaging anomalies. WES uncovered a ... ...

Abstract	We report the clinical and genetic features of a Caucasian girl who presented a severe neurodevelopmental disorder with drug-resistant epilepsy, hypotonia, severe gastro-esophageal reflux and brain magnetic resonance imaging anomalies. WES uncovered a novel variant in homozygosis (g.197092814_197092824delinsC) in HECW2 gene that encodes the E3 ubiquitin-protein ligase HECW2. This protein induces ubiquitination and is implicated in the regulation of several important pathways involved in neurodevelopment and neurogenesis. Furthermore, de novo heterozygous missense variants in this gene have been associated with neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL). The homozygous variant of our patient disrupts the splice donor site of intron 22 and causes the elimination of exon 22 (r.3766_3917+1del) leading to an in-frame deletion of the protein (p.Leu1256_Trp1306del). Functional studies showed a twofold increase of its RNA expression, while the protein expression level was reduced by 60%, suggesting a partial loss-of-function mechanism of pathogenesis. Thus, this is the first patient with NDHSAL caused by an autosomal recessive splicing variant in HECW2.
MeSH term(s)	Brain Diseases ; Female ; Humans ; Muscle Hypotonia/genetics ; Neurodevelopmental Disorders/genetics ; RNA Splicing ; Seizures ; Ubiquitin-Protein Ligases/genetics ; Ubiquitination
Chemical Substances	HECW2 protein, human (EC 2.3.2.26) ; Ubiquitin-Protein Ligases (EC 2.3.2.27)
Language	English
Publishing date	2022-07-01
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1126646-6
ISSN	1098-1004 ; 1059-7794
ISSN (online)	1098-1004
ISSN	1059-7794
DOI	10.1002/humu.24426
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Article ; Online: Response to everolimus of a progressive plexiform neurofibroma in Neurofibromatosis type 1.

Mateos, Maria Elena / López-Laso, Eduardo / Vicente, Josefina / Ortega, Rosa / Vázquez, Fernando / Pérez-Navero, Juan Luis

Pediatrics international : official journal of the Japan Pediatric Society

2020 Volume 62, Issue 7, Page(s) 857–859

MeSH term(s)	Antineoplastic Agents/therapeutic use ; Child ; Everolimus/therapeutic use ; Female ; Humans ; Magnetic Resonance Imaging/methods ; Neurofibroma, Plexiform/complications ; Neurofibroma, Plexiform/drug therapy ; Neurofibromatosis 1/complications ; Neurofibromatosis 1/drug therapy ; TOR Serine-Threonine Kinases/metabolism ; Treatment Outcome
Chemical Substances	Antineoplastic Agents ; Everolimus (9HW64Q8G6G) ; TOR Serine-Threonine Kinases (EC 2.7.1.1)
Language	English
Publishing date	2020-07-06
Publishing country	Australia
Document type	Case Reports ; Journal Article
ZDB-ID	1470376-2
ISSN	1442-200X ; 1328-8067
ISSN (online)	1442-200X
ISSN	1328-8067
DOI	10.1111/ped.14183
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Zs.A 848: Show issues

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Article ; Online: Mielopatía aguda: importancia del diagnóstico precoz.

Priego Ruiz, María Pilar / López Laso, Eduardo / Muñoz Sánchez, Raquel / Pérez Navero, Juan L

Anales de pediatria (Barcelona, Spain : 2003)

2016 Volume 84, Issue 6, Page(s) 348–349

Title translation	Acute myelopathy: importance of early diagnosis.
MeSH term(s)	Acute Disease ; Early Diagnosis ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Spinal Cord Diseases/diagnostic imaging
Language	Spanish
Publishing date	2016-06
Publishing country	Spain
Document type	Case Reports ; Journal Article
ISSN	1695-9531
ISSN (online)	1695-9531
DOI	10.1016/j.anpedi.2015.06.013
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Article ; Online: The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.

Sánchez-Lijarcio, Obdulia / Yubero, Delia / Leal, Fátima / Couce, María L / González Gutiérrez-Solana, Luis / López-Laso, Eduardo / García-Cazorla, Àngels / Pías-Peleteiro, Leticia / de Azua Brea, Begoña / Ibáñez-Micó, Salvador / Mateo-Martínez, Gonzalo / Troncoso-Schifferli, Monica / Witting-Enriquez, Scarlet / Ugarte, Magdalena / Artuch, Rafael / Pérez, Belén

Clinical genetics

2022 Volume 102, Issue 1, Page(s) 40–55

Abstract: Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by SLC2A1) leading to defective glucose transport across the blood-brain barrier. This work describes ... ...

Abstract	Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by SLC2A1) leading to defective glucose transport across the blood-brain barrier. This work describes the genetic analysis of 56 patients with clinical or biochemical GLUT1DS hallmarks. 55.4% of these patients had a pathogenic variant of SLC2A1, and 23.2% had a variant in one of 13 different genes. No pathogenic variant was identified for the remaining patients. Expression analysis of SLC2A1 indicated a reduction in SLC2A1 mRNA in patients with pathogenic variants of this gene, as well as in one patient with a pathogenic variant in SLC9A6, and in three for whom no candidate variant was identified. Thus, the clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
MeSH term(s)	Carbohydrate Metabolism, Inborn Errors/genetics ; Genetic Testing ; Glucose Transporter Type 1/genetics ; Humans ; Monosaccharide Transport Proteins/deficiency ; Monosaccharide Transport Proteins/genetics
Chemical Substances	Glucose Transporter Type 1 ; Monosaccharide Transport Proteins ; SLC2A1 protein, human
Language	English
Publishing date	2022-04-15
Publishing country	Denmark
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.14138
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