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1.
Andes Pediatr ; 93(4): 458-469, 2022 Aug.
Artigo em Espanhol | MEDLINE | ID: mdl-37906843

RESUMO

Hypotonia of the newborn or infant is defined as decreased resistance to passive movement and is a frequent diagnostic challenge in pediatric practice. The hypotonic syndrome is a working diagnosis and its etiology must be identified to determine associated morbidities, prognosis, and management. Rapid advances in bioinformatics and molecular genetic testing allow for early accurate diagnoses in the diagnostic process. Therefore, it is necessary to carry out an updated review on this topic. The objective of this non-systematic narrative review is to describe the diagnostic approach to hypotonic syndrome and its main etiologies. A review of the literature from PubMed and Scielo databases was carried out, including relevant articles in English and Spanish published in the last 15 years. We emphasize the value of the clinical examination and history in locating the cause of hypotonia (cen tral or peripheral) as the first step toward the etiological diagnosis. Systemic diseases such as sepsis, hypoxic-ischemic encephalopathy, heart failure, and metabolic and electrolyte abnormalities are still common causes of central hypotonia. Peripheral hypotonia involves disorders of the anterior horn of the spinal cord, peripheral nerve, neuromuscular junction and muscle, of inherited and acquired origin. The use of images of the central nervous system and muscle and genetic panels and exome, constitute the most recent contributions to the diagnosis of hypotonic syndrome. This article propo ses an initial approach based on the main clinical clues leading to a certain diagnosis. Its therapy is supportive, except for some conditions that require specific treatment.


Assuntos
Hipotonia Muscular , Recém-Nascido , Humanos , Lactente , Criança , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/etiologia , Prognóstico
2.
Rev. chil. pediatr ; 91(6): 941-946, dic. 2020. ilus
Artigo em Espanhol | LILACS | ID: biblio-1508051

RESUMO

INTRODUCCIÓN: La encefalopatía necrotizante aguda (ENA) es una patología rara, caracterizada por compromiso de conciencia y presencia de múltiples lesiones encefálicas simétricas localizadas principalmente en tá lamo. Se asocia a alta letalidad e importantes secuelas. OBJETIVO: Describir el caso de un paciente escolar con ENA asociada a influenza-A con evolución favorable. CASO CLÍNICO: Paciente de 6 años de edad, con historia de 3 días de evolución de síntomas respiratorios altos asociados a fiebre (39 °C). Veinticuatro horas previo a la consulta destacaba compromiso de conciencia cualicuantitativo. Se realizó punción lumbar con proteinorraquia leve. En resonancia magnética (RM) se identificó focos de restricción a la difusión bilaterales de distribución simétrica, talámicos, en cuerpos mamila res, periacueductales, de tegmento pontino, hipocampales y en ambas cápsulas externas, asociado a componente hemorrágico y edema vasogénico, sugerente de ENA. Recibió tratamiento empírico con metilprednisolona y oseltamivir. Posteriormente, se recibió resultado positivo para virus influenza- AH1. Dado diagnóstico, se decidió administrar inmunoglobulina, evolucionando lento pero favora blemente. Al alta levemente bradipsíquico, con disminución de agudeza visual, lenguaje espontáneo y marcha con apoyo. A los 6 meses de seguimiento presentaba lenguaje y marcha normales, persis tiendo alteración visual a derecha. CONCLUSIÓN: Nuestro paciente presentó una ENA cuyo diagnóstico y manejo oportunos se asociaron a una favorable evolución neurológica en el largo plazo. Si bien la ENA es una patología infrecuente, la morbimortalidad asociada es altísima, por lo que resulta de gran importancia tener un alto grado de sospecha, a fin de solicitar estudio imagenológico dirigido, buscar causas infecciosas relacionadas e iniciar un manejo oportuno.


INTRODUCTION: Acute necrotizing encephalopathy of childhood (ANEC) is a rare disease characterized by alteration of consciousness and multiple symmetric brain lesions mainly involving the thalamus. It presents a high mortality rate and severe sequelae. OBJECTIVE: To describe a school-age patient with influenza A-related ANEC with favorable evolution. CLINICAL CASE: Six-year-old boy with 3 days history of upper respiratory symptoms and fever (39 °C). One day previous to admission, he presented altered state of consciousness. A lumbar puncture was performed, showing a mild increase of protein level in CSF. MRI showed bilateral foci of symmetric restricted signal in the thalamus, mammillary bodies, periaqueductal gray, ventral tegmentum, hippocampus, and in both external capsules, which was compatible with ANEC. The patient received empirical treatment with methylprednisolone and oseltamivir. Subsequently, a positive result was received for influenza. Considering diagnosis and severity of illness, it was decided to administer immunoglobulin. The patient got better slowly but favorably. At discharge, he still was mildly bradypsychic with decreased visual acuity, spontaneous speech and walking with assistance. At 6 months of follow-up, the patient presented normal speech and gait, with persistent visual impairment in the right eye. CONCLUSIONS: Our patient presented ANEC, whose timely diagnosis and management were associated with a favorable neurological evolution in the long term. Although ANEC is an infrequent pathology, it has very high morbidity and mortality rates, so it is very important to have a high degree of suspicion in order to request a targeted imaging study, search for related infectious causes, and start proper treatment.


Assuntos
Humanos , Masculino , Criança , Metilprednisolona/administração & dosagem , Leucoencefalite Hemorrágica Aguda/diagnóstico , Influenza Humana/complicações , Oseltamivir/administração & dosagem , Antivirais/administração & dosagem , Vírus da Influenza A/isolamento & purificação , Imageamento por Ressonância Magnética , Seguimentos , Leucoencefalite Hemorrágica Aguda/tratamento farmacológico , Leucoencefalite Hemorrágica Aguda/virologia , Influenza Humana/diagnóstico , Influenza Humana/tratamento farmacológico , Glucocorticoides/administração & dosagem
3.
Rev Chil Pediatr ; 91(1): 85-93, 2020 Feb.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-32730417

RESUMO

INTRODUCTION: Sciatic neuropathy is rare and difficult to diagnose in pediatrics, and its long-term course has not been completely understood. OBJECTIVE: To analyze the clinical presentation and evolution of a group of pediatric patients with sciatic neuropathy. PATIENTS AND METHOD: Retrospective anal ysis of the clinical characteristics of pediatric patients with sciatic neuropathy treated in two hospitals of Santiago between 2014 and 2018. Locomotor examination, muscle trophism, deep tendon reflexes, gait, sensation, and pain were assessed. Sciatic nerve conduction study and electromyography (EMG) were performed, and magnetic resonance imaging (MRI) in three patients. RESULTS: Six patients were included with an average age of 11.8 years. The etiologies were traumatic (N = 2), by compression (N = 2), vascular (N = 1), and tumor (N = 1). All of the 6 patients presented foot drop and Achilles tendon hyporeflexia/areflexia, and 5 patients presented severe neuropathic pain. The EMG showed involvement of the sciatic nerve rami and dependent muscles. In two patients, a pelvic girdle and lower limbs MRI was performed, showing selective muscle involvement in sciatic territory. One patient underwent a lumbosacral plexus MRI, and subsequently histological study showing a benign neural tumor. Out of the three patients who were followed-up longer than one year presented motor sequelae and gait disorder. CONCLUSION: Sciatic neuropathy in the study group was secondary to different causes, predominantly traumatic and compressive etiologies. The three patients that were ina long-term follow-up presented significant motor sequelae. In most of the cases, neural injury wasassoci- ated with preventable causes, such as accidents and positioning in unconscious children, which is crucial in the prevention of a pathology with a high sequelae degree.


Assuntos
Neuropatia Ciática/diagnóstico , Adolescente , Criança , Pré-Escolar , Eletromiografia , Feminino , Seguimentos , Humanos , Imageamento por Ressonância Magnética , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Neuropatia Ciática/etiologia , Neuropatia Ciática/fisiopatologia , Neuropatia Ciática/terapia
4.
Rev Chil Pediatr ; 91(1): 105-110, 2020 Feb.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-32730420

RESUMO

INTRODUCTION: Guillain-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 bet ter neurological recovery and avoid potentially lethal complications.


Assuntos
Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/etiologia , Hidrocefalia/diagnóstico , Hidrocefalia/etiologia , Síndrome de Wiskott-Aldrich/complicações , Humanos , Lactente , Masculino
5.
Neuromuscul Disord ; 30(7): 554-561, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32593548

RESUMO

Non-dystrophic myotonias are a group of rare neuromuscular diseases linked to SCN4A or CLCN1. Among the subtypes, myotonia permanens, associated with the Gly1306Glu variant of SCN4A, is a relatively less frequent but more severe form. Most reports of non-dystrophic myotonias describe European populations. Therefore, to expand the genetic and phenotypic spectrum of this disorder, we evaluated 30 Chilean patients with non-dystrophic myotonias for associated variants and clinical characteristics. SCN4A variants were observed in 28 (93%) of patients, including 25 (83%) with myotonia permanens due to the Gly1306Glu variant. Myotonia permanens was inherited in 24 (96%) patients; the mean age of onset was 6 months, and the initial symptoms were orbicularis oculi myotonia in 17 (74%) patients and larynx myotonia in 12 (52%) patients. The extraocular muscles were involved in 11 (44%) patients, upper limbs in 20 (80%), and lower limbs in 21 (84%). Thirteen (52%) patients experienced recurrent pain and 10 (40%) patients reported limitations in daily life activities. Carbamazepine reduced myotonia in eight treated patients. The high frequency of the Gly1306Glu variant in SCN4A in Chilean patients suggests a founder effect and expands its phenotypic spectrum.


Assuntos
Miotonia/genética , Canal de Sódio Disparado por Voltagem NAV1.4/genética , Adolescente , Adulto , Criança , Chile , Estudos de Coortes , Feminino , Efeito Fundador , Humanos , Lactente , Masculino , Mutação , Transtornos Miotônicos/genética , Adulto Jovem
6.
Rev. chil. pediatr ; 91(1): 85-93, feb. 2020. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1092791

RESUMO

Resumen: Introducción: La neuropatía ciática es una entidad infrecuente y de difícil diagnóstico en Pediatría. Su evolución a largo plazo no ha sido claramente definida. Objetivo: Analizar la presentación clínica y evolución de un grupo de niños con neuropatía ciática. Pacientes y Método: Análisis retrospectivo de las características clínicas de pacientes pediátricos con neuropatía ciática atendidos en 2 hospitales de Santiago, entre 2014-2018. Se evaluó examen motor, trofismo muscular, reflejos osteotendíneos, marcha, sensibilidad y dolor. Se estudió neuroconducción de nervio ciático, electromiografía (EMG) y en 3 pacientes, Resonancia Magnética (RM). Resultados: Se incluyeron 6 pacientes, edad promedio 11,8 años. Hubo 2 causas traumáticas, 2 compresivas, 1 vascular y 1 tumoral. Los 6 pa cientes debutaron con pie caído e hiporreflexia/arreflexia aquiliana; 5 pacientes presentaron dolor neuropático severo. La EMG mostró en todos los casos compromiso en nervios y musculatura de pendientes del nervio ciático. En 2 casos se realizó RM de cintura pélvica y extremidades inferiores, mostrando compromiso muscular selectivo en pierna en territorio ciático. En 1 caso, se realizó RM de plexo lumbosacro, y luego estudio histológico, que concluyeron un tumor neural benigno. En los 3 pacientes que tuvieron seguimiento mayor a un año, se observaron secuelas motoras, con marcha alterada. Conclusión: La neuropatía ciática en este grupo fue secundaria a diversas etiologías, predominando las traumático-compresivas. En los 3 casos que tuvieron seguimiento a largo plazo se observaron secuelas motoras significativas. En la mayoría la lesión se asoció a causas prevenibles como accidentes y posicionamiento en niños con compromiso de conciencia, lo que resulta fundamental en la prevención de una patología con alto grado de secuelas.


Abstract: Introduction: Sciatic neuropathy is rare and difficult to diagnose in pediatrics, and its long-term course has not been completely understood. Objective: To analyze the clinical presentation and evolution of a group of pediatric patients with sciatic neuropathy. Patients and Method: Retrospective anal ysis of the clinical characteristics of pediatric patients with sciatic neuropathy treated in two hospitals of Santiago between 2014 and 2018. Locomotor examination, muscle trophism, deep tendon reflexes, gait, sensation, and pain were assessed. Sciatic nerve conduction study and electromyography (EMG) were performed, and magnetic resonance imaging (MRI) in three patients. Results: Six patients were included with an average age of 11.8 years. The etiologies were traumatic (N = 2), by compression (N = 2), vascular (N = 1), and tumor (N = 1). All of the 6 patients presented foot drop and Achilles tendon hyporeflexia/areflexia, and 5 patients presented severe neuropathic pain. The EMG showed involvement of the sciatic nerve rami and dependent muscles. In two patients, a pelvic girdle and lower limbs MRI was performed, showing selective muscle involvement in sciatic territory. One patient underwent a lumbosacral plexus MRI, and subsequently histological study showing a benign neural tumor. Out of the three patients who were followed-up longer than one year presented motor sequelae and gait disorder. Conclusion: Sciatic neuropathy in the study group was secondary to different causes, predominantly traumatic and compressive etiologies. The three patients that were ina long-term follow-up presented significant motor sequelae. In most of the cases, neural injury wasassoci- ated with preventable causes, such as accidents and positioning in unconscious children, which is crucial in the prevention of a pathology with a high sequelae degree.


Assuntos
Humanos , Feminino , Pré-Escolar , Criança , Adolescente , Neuropatia Ciática/diagnóstico , Prognóstico , Imageamento por Ressonância Magnética , Estudos Retrospectivos , Fatores de Risco , Seguimentos , Neuropatia Ciática/etiologia , Neuropatia Ciática/fisiopatologia , Neuropatia Ciática/terapia , Eletromiografia
7.
Rev. chil. pediatr ; 91(1): 105-110, feb. 2020. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1092794

RESUMO

Resumen: Introducción: El Síndrome de Guillain-Barré (SGB) es raramente diagnosticado en lactantes menores de 1 año. Su asociación con el Síndrome de Wiskott Aldrich (SWA), es aún menos frecuente, y ha sido previa mente reportada sólo en dos pacientes a nuestro conocimiento. La hidrocefalia, es una complicación conocida, pero infrecuente del SGB. Objetivo: presentar el caso clínico de un lactante en el que se asocian las patologías de SGB, SWA e hidrocefalia. Caso Clínico: varon de 9 meses, portador de SWA hospitalizado en unidad de cuidados intensivos por hipotonía aguda y compromiso del estado gene ral. Evolucionó con parálisis fláccida, falla ventilatoria y arreflexia generalizada. Una punción lumbar mostró disociación albuminocitológica, y el estudio electrofisiológico mostró signos de polineuropatía desmielinizante severa. Se trató con inmunoglobulina, evolucionando en forma satisfactoria. Por bradicardia intermitente, se realizó tomografla axial computada cerebral (TAC), que mostró signos de una hidrocefalia aguda, manejada mediante válvula derivativa ventrículo peritoneal con favorable respuesta. En el largo plazo, se sometió a trasplante de médula ósea y debió ser reintervenido por complicaciones valvulares, sin embargo, su desarrollo psicomotor es normal sin secuelas neurológi cas evidentes hasta los 3 años. Conclusión: Presentamos el tercer caso de SGB en un paciente porta dor de SWA, destacando ser el primero de ellos en un lactante menor de 1 año. Adicionalmente, este niño presentó una hidrocefalia aguda como complicación del SGB. Consideramos relevante tener presente estas comorbilidades, debido a que su pronto diagnóstico y manejo oportuno, permiten una mejor recuperación neurológica y evitan complicaciones potencialmente letales.


Abstract: Introduction: Guillain-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 bet ter neurological recovery and avoid potentially lethal complications.


Assuntos
Humanos , Masculino , Lactente , Síndrome de Wiskott-Aldrich/complicações , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/etiologia , Hidrocefalia/diagnóstico , Hidrocefalia/etiologia
8.
Rev Chil Pediatr ; 91(6): 941-946, 2020 Dec.
Artigo em Espanhol | MEDLINE | ID: mdl-33861832

RESUMO

INTRODUCTION: Acute necrotizing encephalopathy of childhood (ANEC) is a rare disease characterized by alteration of consciousness and multiple symmetric brain lesions mainly involving the thalamus. It presents a high mortality rate and severe sequelae. OBJECTIVE: To describe a school-age patient with influenza A-related ANEC with favorable evolution. CLINICAL CASE: Six-year-old boy with 3 days history of upper respiratory symptoms and fever (39 °C). One day previous to admission, he presented altered state of consciousness. A lumbar puncture was performed, showing a mild increase of protein level in CSF. MRI showed bilateral foci of symmetric restricted signal in the thalamus, mammillary bodies, periaqueductal gray, ventral tegmentum, hippocampus, and in both external capsules, which was compatible with ANEC. The patient received empirical treatment with methylprednisolone and oseltamivir. Subsequently, a positive result was received for influenza. Considering diagnosis and severity of illness, it was decided to administer immunoglobulin. The patient got better slowly but favorably. At discharge, he still was mildly bradypsychic with decreased visual acuity, spontaneous speech and walking with assistance. At 6 months of follow-up, the patient presented normal speech and gait, with persistent visual impairment in the right eye. CONCLUSIONS: Our patient presented ANEC, whose timely diagnosis and management were associated with a favorable neurological evolution in the long term. Although ANEC is an infrequent pathology, it has very high morbidity and mortality rates, so it is very important to have a high degree of suspicion in order to request a targeted imaging study, search for related infectious causes, and start proper treatment.


Assuntos
Influenza Humana/complicações , Leucoencefalite Hemorrágica Aguda/diagnóstico , Metilprednisolona/administração & dosagem , Oseltamivir/administração & dosagem , Antivirais/administração & dosagem , Criança , Seguimentos , Glucocorticoides/administração & dosagem , Humanos , Vírus da Influenza A/isolamento & purificação , Influenza Humana/diagnóstico , Influenza Humana/tratamento farmacológico , Leucoencefalite Hemorrágica Aguda/tratamento farmacológico , Leucoencefalite Hemorrágica Aguda/virologia , Imageamento por Ressonância Magnética , Masculino
9.
Rev Med Chil ; 147(3): 384-389, 2019 Mar.
Artigo em Espanhol | MEDLINE | ID: mdl-31344178

RESUMO

Fibrodysplasia 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.


Assuntos
Miosite Ossificante/diagnóstico por imagem , Anti-Inflamatórios/uso terapêutico , Criança , Chile , Feminino , Humanos , Imageamento por Ressonância Magnética , Miosite Ossificante/tratamento farmacológico , Miosite Ossificante/genética , Ossificação Heterotópica/diagnóstico por imagem , Ossificação Heterotópica/tratamento farmacológico , Ossificação Heterotópica/genética , Prednisona/uso terapêutico
10.
Rev. méd. Chile ; 147(3): 384-389, mar. 2019. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1004361

RESUMO

Fibrodysplasia 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.


Assuntos
Humanos , Feminino , Criança , Miosite Ossificante/diagnóstico por imagem , Prednisona/uso terapêutico , Imageamento por Ressonância Magnética , Chile , Ossificação Heterotópica/genética , Ossificação Heterotópica/tratamento farmacológico , Ossificação Heterotópica/diagnóstico por imagem , Anti-Inflamatórios/uso terapêutico , Miosite Ossificante/genética , Miosite Ossificante/tratamento farmacológico
11.
J Med Case Rep ; 12(1): 249, 2018 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-30149802

RESUMO

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.


Assuntos
Carnitina O-Palmitoiltransferase/deficiência , Doenças Musculares/genética , Adolescente , Carnitina O-Palmitoiltransferase/genética , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Doenças Musculares/diagnóstico , Doenças Musculares/patologia , Mutação , Estudos Retrospectivos , Rabdomiólise/diagnóstico , Rabdomiólise/genética , Rabdomiólise/patologia , Adulto Jovem
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