RESUMEN
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL, which encodes VLCAD. The clinical presentation of VLCAD deficiency is heterogeneous, and either a delayed diagnosis or a misdiagnosis may sometimes occur. We herein describe a difficult-to-diagnose case of the muscle form of adult-onset VLCAD deficiency with compound heterozygous ACADVL mutations including c.790A>G (p.K264E) and c.1246G>A (p.A416T).
Asunto(s)
Acil-CoA Deshidrogenasa de Cadena Larga/deficiencia , Acil-CoA Deshidrogenasa de Cadena Larga/genética , Síndromes Congénitos de Insuficiencia de la Médula Ósea/genética , Síndromes Congénitos de Insuficiencia de la Médula Ósea/fisiopatología , Síndromes Congénitos de Insuficiencia de la Médula Ósea/terapia , Rabdomiólisis/fisiopatología , Rabdomiólisis/terapia , Adulto , Síndromes Congénitos de Insuficiencia de la Médula Ósea/diagnóstico , Variación Genética , Humanos , Japón , Masculino , Mutación , Rabdomiólisis/diagnóstico , Rabdomiólisis/etiologíaRESUMEN
A 43-year-old man presented with severe, saw-tooth pattern pain around the right eye that started with conjunctival injection, lacrimation and nasal discharge, lasting for about 1 hour, 4 months after the initial onset of lancinating pain in the same area. The patient was diagnosed with SUNCT (short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing) according to the International Classification of Headache Disorders 3rd edition (beta version). The symptoms improved in 2 months but recurred 6 months later. He developed a toxic eruption after receiving a variety of antiepileptic agents including lamotrigine, which suggested refractory SUNCT. Head magnetic resonance imaging (MRI) showed neurovascular compression (NVC) involving the right trigeminal nerve. Microvascular decompression (MVD) was performed, and the pain was relieved postoperatively. MVD should be considered when treating refractory SUNCT because NVC may be involved in some cases. (Received February 29, 2016; Accepted April 4, 2016; Published August 1, 2016).
Asunto(s)
Cefalea/cirugía , Cirugía para Descompresión Microvascular , Nervio Trigémino/cirugía , Adulto , Cefalea/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , MasculinoRESUMEN
A 51-year-old man complained of continuous pain lasting about 3 weeks around his forehead and left orbit-locations where pain may indicate conjunctival injection and lacrimation. Upon arrival to our hospital, his neurological examination was normal, and brain MRI showed no abnormality. The headache disappeared with indomethacin treatment (75 mg/day), and a diagnosis of hemicrania continua (HC) was established according to the International Classification of Headache Disorders, 2nd Edition. The headache returned after reducing the dose of indomethacin. After adding pregabalin (150 mg/day) to his treatment regimen, we could reduce the dose of indomethacin from 75 mg/day to 25 mg/day, which the patient tolerated well. Although HC is one of the indomethacin-responsive headaches, continuous administration can cause side effects including gastrointestinal disorders. Such side effects can decrease the tolerability of indomethacin, and may eventually lead to its reduction or discontinuation. Pregabalin can be an alternative to indomethacin for treating HC.