Browsing by Author "Avila Smirnow, Daniela"
Now showing 1 - 9 of 9
Results Per Page
Sort Options
- ItemCarnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports(2018) Avila Smirnow, Daniela; Beytía Reyes, María de Los Ángeles; Contreras Olea, Oscar; Gejman Enríquez, Roger; Escobar Henríquez, Raúl; Förster Mujica, Jorge.; Boutron, Audrey.; Caicedo Feijoo, Alfredo.Abstract Background The myopathic form of carnitine palmitoyltransferase type II deficiency is an inherited autosomal recessive metabolic myopathy usually starting in childhood. Most reports have been on European and Japanese populations, and no Native South American patients have been reported to date. The p.Ser113Leu mutation is the most frequent in the European population. Only lower-leg magnetic resonance imaging findings have been reported, with gluteus maximus involvement in one case and normal imaging in other patients. Case presentation Two Native South American siblings, a boy and a girl, presented to our neuromuscular clinic with recurrent rhabdomyolysis associated with transient muscle weakness after prolonged exercise. During episodes, their creatine kinase concentrations were markedly increased, up to 148,000 (1.48 × 105) IU/L in the boy and 18,000 (1.8 × 104) IU/L in the girl. The results of electroneuromyography and histopathology suggested a nonspecific myopathy. CPT2 gene sequencing showed two heterozygous mutations: the p.Ser113Leu variant and a novel one (predicted to be deleterious by in silico analysis), the p.Ser373Pro variant. The patients’ parents were asymptomatic carriers. Whole-body magnetic resonance imaging showed mild selective involvement in the thoracic extensors and pelvic girdle in both siblings, and in the thighs and lower legs in one of them. Dietary and bezafibrate treatment was started, and symptomatic relief was observed. Conclusions To the best of our knowledge, this is the first reported Native South American family with a CPT2 deficiency carrying a novel mutation and particular features visualized by whole-body magnetic resonance imaging.
- ItemCongenital muscular dystrophies(2013) Quijano-Roy, Susana; Avila Smirnow, Daniela; Carlier, Robert-Yves; Willis, Tracey A.; Straub, Volker; Wattjes, Mike P.; Fischer, Dirk
- ItemDiagnosis and Management of Carpal Tunnel Syndrome in Children with Mucopolysaccharidosis : A 10 Year Experience(2020) Dabaj, I.; Gitiaux, C.; Avila Smirnow, Daniela; Ropers, J.; Desguerre, I.; Salon, A.; Pannier, S.; Tebani, A.; Valayannopoulos, V.; Quijano Roy, S.
- ItemEarly onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly(2021) Avila Smirnow, Daniela; Durán Saavedra, Gloria Patricia; Ovalle Besa, P.; Gejman Enríquez, Roger
- ItemFibrodisplasia osificante progresiva plus por una variante patogénica del gen ACVR1: caso clínico(2019) Contreras Olea, Oscar; Goecke Hochberger, C.; Rumié Carmi, Hana Karime; Lobo Avilés, R.; Mellado Sagredo, Cecilia Ximena; Avila Smirnow, DanielaFibrodysplasia ossificans progressiva (FOP) or myositis ossificans, is a genetic disease, with a prevalence of 1 in 2.000.000. It is caused by pathogenic variants in ACVR1 gene and characterized by soft tissue heterotopic ossification, starting in the second decade of life. It is associated to early mortality caused by respiratory complications. It evolves in flare-ups, triggered by soft tissue injuries; therapy is symptomatic, using analgesia, steroids and diphosphonates. We report a 12-year-old female with left renal agenesis, hallux valgus and intellectual disability, presenting with a six months history of thoracic kyphosis, tender nodules in the thorax, and rigidity of right elbow and left knee. Clinical examination revealed dysmorphic facial features. A magnetic resonance showed heterotopic ossification nodules, which was confirmed with spinal radiography. These findings prompted the diagnosis of FOP. Pain treatment was started, and prednisone was used during flare-ups. The ACVR1 gene was analyzed and a pathogenic variant, p. Arg206His, was found, confirming the diagnosis of FOP.
- ItemGuillain-Barre Syndrome and Hydrocephalus in an infant with Wiskott-Aldrich Syndrome(SOC CHILENA PEDIATRIA, 2020) Avila Smirnow, Daniela; Cordova Aguilera, Marcela; Cantillano Malone, Christian; Arriaza Ortiz, Manuel; Wegner Araya, AdrianaGuillain-Barre Syndrome (GBS) is rarely diagnosed in the first year of life. The association of GBS with Wiskott-Aldrich syndrome (WAS) is even less frequent and has been previously reported in only two children to our knowledge. Hydrocephalus is a known but rare complication of GBS. Objective: To describe the case of an infant in which GBS, WAS and hydrocephalus appear clinically associated. Clinical Case: A nine-months-old male infant with a history of WAS was admitted to our ICU with acute hypotonia and poor general condition. He developed flaccid paralysis, absent deep tendon reflexes, and respiratory failure. A lumbar puncture showed albuminocytologic dissociation. GBS was suspected and an electromyography was performed, showing a demyelinating polyneuropathy. He was successfully treated with intravenous immunoglobulins. During hospitalization, he presented intermittent bradycardia, so a brain CT scan was performed, showing acute hydrocephalus which was managed through an external ventricular drain achieving favorable response. In the long term, the patient underwent bone marrow transplant and had to be reoperated due to valve-related complications. However, his psychomotor development is normal, with no obvious neurological sequelae. Conclusion: We present the third case of GBS in a patient with WAS, which is the first infant younger than one year. Additionally, he presented acute hydrocephalus as a complication of GBS. We suggest considering these three comorbidities since their early diagnosis and prompt management allow better neurological recovery and avoid potentially lethal complications.
- ItemNeuropatía ciática en pediatría : presentación clínica y seguimiento a largo plazo(2020) Jaque Almendras, C.; Escobar Henríquez, Raúl; Caicedo Feijoo, A.; Beytía Reyes, María de Los Ángeles; Correa Pérez, S.; Gejman Enríquez, Roger; Cruz, Juan Pablo; Contreras Olea, Oscar; Avila Smirnow, Daniela
- ItemNon-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant(2020) Avila Smirnow, Daniela; Vargas Leal, C. P.; Beytía Reyes, María de Los Ángeles; Cortés Zepeda, R.; Escobar Henríquez, Raúl; Kleinsteuber Saa, K.; Lagos Lucero, Sonia Marcela; Avaria Benapres, M. D.; Padilla Pérez, O.; Casar Leturia, Juan Carlos; Mellado Sagredo, C.; Sternberg, D.
- ItemWhole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern(2015) Hankiewicz, K.; Carlier, R.; Lazaro, L.; Linzoain, J.; Barnerias, C.; Gomez, D.; Avila Smirnow, Daniela; Ferreiro, A.; Estournet, B.; Guicheney, P.; Germain, D.; Richard, P.; Bulacio, S.; Mompoint, D.; Quijano-Roy, S.