ABSTRACT
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a rare metabolic disease caused by a specific mutation in the HADHA gene, which leads to an alteration in the metabolic pathway of fatty acids. Its most frequent form of presentation at the ophthalmological level is retinitis pigmentosa, and in some cases the ophthalmologist could be the first one to alert the other paediatric specialties to carry out a multidisciplinary approach to the case. The case is presented of a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficit detected in neonatal screening, and which clinically debuted as pigmentary retinosis with no alteration in visual acuity as observed in the fundus images and optical coherence tomography of the retina provided. Finally, a review of the literature of this potentially lethal pathology is presented, and the main pathological and clinical features are highlighted.
Subject(s)
Mitochondrial Myopathies , Nervous System Diseases , Retinitis Pigmentosa , 3-Hydroxyacyl CoA Dehydrogenases , Cardiomyopathies , Child , Humans , Infant, Newborn , Lipid Metabolism, Inborn Errors , Mitochondrial Trifunctional Protein/deficiency , Retinitis Pigmentosa/diagnosis , RhabdomyolysisABSTRACT
El síndrome de Haberland o lipomatosis encefalocraneocutánea es un síndrome muy infrecuente caracterizado por la tríada clásica de afectación cutánea, ocular y del sistema nervioso central. Fue descrito por primera vez en 1970 por Haberland y Perou, habiéndose descrito unos 60 casos desde entonces. Presentamos un caso de un varón de 14 semanas diagnosticado de síndrome de Haberland con afectación ocular bilateral en forma de coloboma palpebral y coristomas
Haberland syndrome or encephalocutaneous lipomatosis is a very uncommon syndrome that is characterised by changes in the skin, eye, and central nervous system. It was first described in 1970 by Haberland and Perou, with about 60 cases having been reported since then. A case is reported of a 14-week-old male diagnosed with Haberland syndrome with bilateral ocular involvement in the form of palpebral coloboma and choristomas
Subject(s)
Humans , Male , Infant, Newborn , Eye Abnormalities/genetics , Cleft Lip/genetics , Congenital Abnormalities/genetics , Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive/genetics , Eye Abnormalities/diagnosis , Cleft Lip/diagnosis , Chromosome Disorders/diagnosis , Chromosome Disorders/genetics , Diagnosis, Differential , Ectodermal Dysplasia/diagnosis , Ectodermal Dysplasia/geneticsABSTRACT
Haberland syndrome or encephalocutaneous lipomatosis is a very uncommon syndrome that is characterised by changes in the skin, eye, and central nervous system. It was first described in 1970 by Haberland and Perou, with about 60 cases having been reported since then. A case is reported of a 14-week-old male diagnosed with Haberland syndrome with bilateral ocular involvement in the form of palpebral coloboma and choristomas.
ABSTRACT
No disponible
Subject(s)
Humans , Male , Infant , Retinal Hemorrhage/diagnostic imaging , Shaken Baby Syndrome/diagnostic imagingABSTRACT
No disponible
Subject(s)
Humans , Female , Child , Antibiotics, Antineoplastic/administration & dosage , Bleomycin/administration & dosage , Lymphangioma/drug therapy , Orbital Neoplasms/drug therapy , Injections, Intralesional , Lymphangioma/diagnostic imaging , Orbital Neoplasms/diagnostic imagingABSTRACT
No disponible
Subject(s)
Humans , Child , Brain Diseases/complications , Vision Disorders/etiology , Vision Disorders/diagnosis , Vision Disorders/therapyABSTRACT
OBJECTIVE: To prepare a protocol for the treatment of retinopathy of prematurity (ROP) agreed by the majority of Spanish ophthalmologists dedicated to this topic. MATERIAL AND METHOD: A draft of the protocol was produced taking into account the experience of the participants and up to date publications. This draft was corrected by all the ophthalmologists participating in the project, and the final document was agreed by all of them. RESULTS: We present general guidelines as an aid for the treatment of ROP, including treatment criteria, treatment methods, a calendar of action, and follow-up. CONCLUSIONS: It is important to have a common working protocol for the treatment of ROP to improve care and to avoid mistakes. Although individual Hospitals may adapt the protocol to their daily activity, it is recommended that there is a minimal working protocol agreed by most of professionals dedicated to pediatric ophthalmology in Spain.
Subject(s)
Retinopathy of Prematurity/therapy , Clinical Protocols , Humans , Practice Guidelines as Topic , SpainABSTRACT
Objetivo: Realizar un protocolo de tratamiento de la retinopatía del prematuro (ROP) consensuado por la mayor parte de oftalmólogos españoles dedicados al tema. Material y método: Se realizó un borrador del protocolo según la experiencia de los participantes y las publicaciones actualizadas. Este borrador fue corregido por los participantes en el protocolo y se llegó al documento final consensuado por todos los participantes. Resultados: Se presentan las directrices generales para realizar el tratamiento de la ROP, incluyendo criterios de tratamiento, metodología de actuación, calendario de actuación y seguimiento. Conclusiones: Es importante disponer de un protocolo de actuación común en el tratamiento de la ROP para mejorar la actuación y evitar errores. Aunque cada centro hospitalario deba adaptar el protocolo a su actividad clínica, es recomendable que existan un mínimo de procedimientos consensuados por todos los oftalmólogos dedicados a la ROP (AU)
Objective: To prepare a protocol for the treatment of retinopathy of prematurity (ROP) agreed by the majority of Spanish ophthalmologists dedicated to this topic. Material and method: A draft of the protocol was produced taking into account the experience of the participants and up to date publications. This draft was corrected by all the ophthalmologists participating in the project, and the final document was agreed by all of them. Results: We present general guidelines as an aid for the treatment of ROP, including treatment criteria, treatment methods, a calendar of action, and follow-up. Conclusions: It is important to have a common working protocol for the treatment of ROP to improve care and to avoid mistakes. Although individual Hospitals may adapt the protocol to their daily activity, it is recommended that there is a minimal working protocol agreed by most of professionals dedicated to pediatric ophthalmology in Spain (AU)
Subject(s)
Humans , Male , Female , Infant, Newborn , Retinopathy of Prematurity/therapy , Retinal Neovascularization/therapy , Retinal Detachment/prevention & control , Clinical Protocols , Practice Patterns, Physicians'ABSTRACT
Objetivo: Realizar un protocolo de cribado de la retinopatía del prematuro (ROP), consensuado por la mayor parte de oftalmólogos españoles dedicados al tema. Material y método: Se realizó un borrador del protocolo según la experiencia de los participantes y las publicaciones actualizadas. Este borrador fue corregido por los participantes en el protocolo y se llegó al documento final consensuado por todos los participantes. Resultados: Se presentan las directrices generales para realizar el cribado de la ROP, incluyendo criterios de inclusión y exclusión, metodología de exploración y calendario de actuación. Conclusiones: Es importante disponer de un protocolo de actuación común en el cribado de la ROP para mejorar la actuación y evitar errores. Aunque cada centro hospitalario deba adaptar el protocolo a su actividad clínica es recomendable que existan un mínimo de procedimientos consensuados por todos los oftalmólogos dedicados a la ROP (AU)
Objective: To prepare a retinopathy of prematurity (ROP) screening program as agreed by most of Spanish ophthalmologists dedicated to this topic. Material and method: A draft of the protocol was produced taking into account the experience of the participants and current publications. This draft was corrected by all the ophthalmologists participating in the project and the final document produced was agreed by all of them. Results: We present general guidelines to help in the screening of ROP, including treatment criteria, treatment methods, and a calendar of action. Conclusions: It is important to have a common working protocol in the screening of ROP to improve the action and to avoid mistakes. Although individual Hospitals may adapt the protocol to their daily activity, it is recommended that there is a minimal working protocol agreed by most of professionals dedicated to pediatric ophthalmology in Spain (AU)
Subject(s)
Humans , Male , Female , Infant, Newborn , Neonatal Screening/methods , Retinopathy of Prematurity/epidemiology , Guideline Adherence , Practice Patterns, Physicians'ABSTRACT
OBJECTIVE: To prepare a retinopathy of prematurity (ROP) screening program as agreed by most of Spanish ophthalmologists dedicated to this topic. MATERIALS AND METHODS: A draft of the protocol was produced taking into account the experience of the participants and current publications. This draft was corrected by all the ophthalmologists participating in the project and the final document produced was agreed by all of them. RESULTS: We present general guidelines to help in the screening of ROP, including treatment criteria, treatment methods, and a calendar of action. CONCLUSIONS: It is important to have a common working protocol in the screening of ROP to improve the action and to avoid mistakes. Although individual Hospitals may adapt the protocol to their daily activity, it is recommended that there is a minimal working protocol agreed by most of professionals dedicated to pediatric ophthalmology in Spain.
