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