LUCIA INES MACEDO DE SOUZA
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
12 resultados
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- Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature(2020) INUZUKA, Luciana Midori; MACEDO-SOUZA, Lucia Ines; DELLA-RIPA, Bruno; CABRAL, Katiane S. S.; MONTEIRO, Fabiola; KITAJIMA, Joao Paulo; GODOY, Luis Filipe de Souza; DELGADO, Daniel de Souza; KOK, Fernando; GARZON, ElianaSCN3A was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy. We present two additional patients with a novel de novo SCN3A pathogenic variant, and a review of all published cases of de novo variants. In one of our patients brain magnetic resonance imaging (MRI) disclosed a severe polymicrogyria and in the other it was normal. The clinical phenotype was characterized by a severe developmental delay and refractory epilepsy in the patient with polymicrogyria and intellectual disability with autistic features and pharmacoresponsive epilepsy in the subject with normal MRI. Polymicrogyria, a disorder of progenitor cells proliferation and migration, is an unanticipated finding for an ion channel dysfunction.
- Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings(2023) PAIVA, Anderson Rodrigues Brandao de; PESSOA, Andre Luiz Santos; NOBREGA, Paulo Ribeiro; MORENO, Cristiane Araujo Martins; LYNCH, David S.; TANIGUTI, Lucas Mitsuo; KITAJIMA, Joao Paulo; FREUA, Fernando; DELLA-RIPA, Bruno; CUNHA, Paulina; BARCELOS, Isabella Peixoto de; MACEDO-SOUZA, Lucia Ines; TAKEUCHI, Carlos Augusto; GARCIA, Antonio Milton Silva; NARDES, Flavia; FONTAO, Ramiro; ANTONIUK, Sergio Antonio; TRONCOSO, Monica; SPECOLA, Norma; DURAND, Consuelo; MADEIRO, Bianca de Aguiar Coelho Silva; DORIQUI, Maria Juliana Rodovalho; VERGARA, Diane; HOULDEN, Henry; KOK, Fernando
- NERVE CONDUCTION STUDIES IN SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (SPOAN) SYNDROME(2014) AMORIM, Simone; HEISE, Carlos Otto; SANTOS, Silvana; MACEDO-SOUZA, Lucia Ines; ZATZ, Mayana; KOK, FernandoIntroduction: SPOAN (spastic paraplegia, optic atrophy, and neuropathy) syndrome is an autosomal recessive neurodegenerative disorder identified in a large consanguineous Brazilian family. Methods: Twenty-seven patients with SPOAN syndrome (20 women), aged 4-58 years, underwent nerve conduction studies (NCS) of the median, ulnar, tibial, and fibular nerves, and sensory NCS of the median, ulnar, radial, sural, and superficial fibular nerves. Results: Sensory nerve action potentials were absent in the lower limbs and absent in >80% of upper limbs. Motor NCS had reduced amplitudes and borderline velocities in the upper limbs and absent compound muscle action potentials (CMAPs) in the lower limbs. Conclusions: The neuropathy in SPOAN syndrome is a severe, early-onset sensory-motor axonal polyneuropathy. Normal NCS seem to rule-out this condition. Muscle Nerve49: 131-133, 2014
- MECP2-related conditions in males: A systematic literature review and 8 additional cases(2021) INUZUKA, Luciana Midori; GUERRA-PEIXE, Matheus; MACEDO-SOUZA, Lucia Ines; PEDREIRA, Christiane Cobas; GURGEL-GIANNETTI, Juliana; MONTEIRO, Fabiola Paoli; RAMOS, Luiza; COSTA, Larissa Athayde; CRIPPA, Ana Chrystina de Souza; LOURENCO, Charles Marques; PACHITO, Daniela Viana; SUKYS-CLAUDINO, Lucia; GASPAR, Leonardo Salvador; ANTONIUK, Sergio Antonio; DUTRA, Luis Paulo de Souza; DINIZ, Sabrina Stephanie Lana; PIRES, Rafaelle Batistella; GARZON, Eliana; KOK, FernandoObjective: To present a cohort of 8 males and perform a systematic review of all published cases with a single copy of MECP2 carrying a pathogenic variant. Methods: We reviewed medical records of males with a single copy of MECP2 carrying a pathogenic variant. We searched in Medline (Pubmed) and Embase to collect all articles which included well characterized males with a single copy of MECP2 carrying a pathogenic or likely pathogenic variant in MECP2 (1999-2020). Results: The literature search yielded a total of 3,185 publications, of which 58 were included in our systematic review. We were able to collect information on 27 published patients with severe neonatal encephalopathy, 47 individuals with isolated or familial mental retardation X-linked 13 (XLMR13), as well as 24 individuals with isolated or familial Pyramidal signs, parkinsonism, and macroorchidism (PPM-X). In our cohort, we met eight individuals aged 4 to 19-year-old at the last evaluation. Three MECP2- associated phenotypes were seen in male carriers of a single copy of the gene: severe neonatal encephalopathy (n = 5); X-linked intellectual deficiency 13 (n = 2); and pyramidal signs, parkinsonism, and macroorchidism (PPM-X) (n = 1). Two novel de novo variants [p.(Gly252Argfs*7) and p.(Tyr132Cys)] were detected. Conclusion: In males, the MECP2 pathogenic variants can be associated with different phenotypes, including neonatal severe encephalopathy, intellectual deficiency, or late-onset parkinsonism and spasticity. The typical RS phenotype is not expected in males, except in those with Klinefelter syndrome or somatic mosaicism for MECP2.
- Parental germline mosaicism in SCN3A-related severe developmental disorder(2021) INUZUKA, Luciana Midori; MACEDO-SOUZA, Lucia Ines; GUERRA-PEIXE, Matheus; PEDREIRA, Christiane Cobas; DELLA-RIPA, Bruno; DELGADO, Daniel Souza; MONTEIRO, Fabiola; KITAJIMA, Joao Paulo; GARZON, Eliana; KOK, Fernando
- Leukodystrophy with premature ovarian failure: think on vanishing white matter disease (VWMD)(2015) FREUA, Fernando; PARMERA, Jacy Bezerra; DORIA, Denise de Oliveira; PAIVA, Anderson Rodrigues Brandao de; MACEDO-SOUZA, Lucia Ines; KOK, Fernando
- Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: Two new cases and review of the literature (vol 42, pg 211, 2020)(2021) INUZUKA, Luciana Midori; MACEDO-SOUZA, Lucia Ines; DELLA-RIPA, Bruno; CABRAL, Katiane S. S.; MONTEIRO, Fabiola; KITAJIMA, Joao Paulo; GODOY, Luis Filipe de Souza; DELGADO, Daniel de Souza; KOK, Fernando; GARZON, Eliana
- Brain or Spinal Cord MRI in the Investigation of Hereditary Spastic Paraplegia? Brain First!(2020) FREUA, F.; RIPA, B. D.; IMACEDO-SOUZA, L.; PAIVA, A. R. B.; KOK, F.
- Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy(2020) INUZUKA, Luciana Midori; MACEDO-SOUZA, Lucia Ines; DELLA-RIPA, Bruno; MONTEIRO, Fabiola Paoli; RAMOS, Luiza; KITAJIMA, Joao Paulo; GARZON, Eliana; KOK, FernandoIntroduction: KCNT2 was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy. Case report: We present an additional observation of a 16-year-old male patient with a novel de novo KCNT2 likely pathogenic variant and review the five previously reported cases of de novo variants in this gene. Discussion: Whole exome sequencing identified the missense variant c.725C > A p.(Thr242Asn), which was confirmed by Sanger sequencing. Our patient has a refractory stereotyped and monomorphic type of hyperkinetic focal motor seizure, similar to what is seen in frontal lobe epilepsy, occurring only during sleep. This type of seizure is not usually seen in epileptic encephalopathies.
- Apraxia of Eyelid Opening and Blepharospasm in Two Spinocerebellar Ataxia Type 3 Patients(2022) GUIMARAES, Thiago G.; MONTANHA, Lucas R.; FREUA, Fernando; PAIVA, Anderson R. B.; I, Lucia Macedo-Souza; KOK, FernandoBackground: Neuroophthalmological phenotypical particularities of SCA3. Phenomenology: Eyelid opening apraxia and asymmetrical blepharospasm. Educational Value: To illustrate the phenomenology for purposes of education.