ABSTRACT
RESUMEN El síndrome de Sjögren es una entidad multisistémica de naturaleza autoinmune, clásicamente considerada una exocrinopatía debido a la alta frecuencia de síntomas secos (queratoconjuntivitis seca, xerostomía) como resultado de infiltración poliglandular por linfocitos autorreactivos. Sin embargo, menos del 10% de estos pacientes puede iniciar con manifestaciones extraglandulares severas, traducidas en peores desenlaces a largo plazo. Se presenta el caso de una gestante que inició con síndrome de debilidad aguda proximal relacionada con miositis con enfermedad mitocondrial e hipopotasemia severa, en el contexto de acidosis tubular renal distal, como manifestación extraglandular de síndrome de Sjögren primario. Se discuten brevemente manifestaciones neurológicas de esta entidad, incluyendo aquellas secundarias a trastornos metabólicos precipitados por compromiso autoinmune.
ABSTRACT Sjögren's syndrome is a multisystemic autoimmune disorder. It is classically considered as an exocrine disease, given the high frequency of dry symptoms (keratoconjunctivitis sicca, xerostomia) as a result of poly-glandular infiltration by autoreactive lymphocytes. However, less than 10% of these patients can onset with severe extra-glandular manifestations, resulting in worse long-term outcomes. The case of a pregnant woman is presented, who debuted with acute proximal weakness syndrome related to myositis with mitochondrial pathology and severe hypokalaemia in the context of distal renal tubular acidosis, as an extra-glandular manifestation of primary Sjögren's syndrome. Neurological manifestations of this condition are briefly discussed, including those secondary to metabolic disorders precipitated by autoimmune compromise.
Subject(s)
Humans , Female , Adult , Sjogren's Syndrome , Polymyositis , Giant Axonal Neuropathy , Biopsy , Hypokalemic Periodic Paralysis , DiagnosisABSTRACT
X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is an X-linked disorder characterized by early-onset sensorineural hearing impairment, peripheral neuropathy, and progressive optic atrophy. It is caused by a loss-of-function mutation in the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1), which encodes isoform I of phosphoribosyl pyrophosphate synthetase (PRS-I). A decreased activity leads to nonsyndromic sensorineural deafness (DFN2), CMTX5, and Arts syndrome depending upon residual PRS-I activity. Clinical and neurophysiological features of pediatric CMTX5 are poorly defined. We report two male siblings with peripheral neuropathy and prelingual sensorineural hearing loss who carried a novel c.319A>G (p.Ile107Val) PRPS1 missense mutation. They exhibited recurrent episodes of transient proximal muscle weakness, showing Gowers' sign and waddling gait after suffering from febrile illness. This transient weakness has not been previously reported in CMTX5. A patient with Arts syndrome was reported to have transient proximal weakness after febrile illness. The transient weakness presenting in both CMTX5 and Arts syndrome suggests an overlap of signs and a continuous spectrum of PRS-I hypoactivity disease. Children presenting with transient neurological signs should be evaluated for peripheral neuropathy and consider genetic analysis for PRPS1.
Subject(s)
Charcot-Marie-Tooth Disease/complications , Fever/complications , Genetic Diseases, X-Linked/complications , Muscle Weakness/etiology , Ribose-Phosphate Pyrophosphokinase/genetics , Charcot-Marie-Tooth Disease/genetics , Humans , Male , Muscle Weakness/genetics , Mutation, Missense , Pedigree , SiblingsABSTRACT
The differential diagnosis of acute weakness (AW) in emergency departments (ED) is broad and includes both neurological and medical reasons. We describe an 81-year-old female patient with cortical infarct presenting with sudden onset isolated foot drop, which to the best of our knowledge, was the third case in English literature. An 81-year-old female was admitted to our ED with a 12-hour history of left-sided foot drop. Her motor strength was normal throughout the upper and lower extremities, except for weakness in the left ankle and toe dorsiflexors. Other examination findings were unremarkable. Diffusion-weighted magnetic resonance imaging (DWI-MR) revealed a focal high intensity signal in the right precentral gyrus at high convexity with a cerebral infarct. Detailed physical examinations and histories are extremely important for exact diagnosis and differentials of patients with AW. This case reminds us that a small infarct area of central nervous system may mimic peripheral nerve lesions, especially in elderly patients. Although the presentation of such complaints may play a distracting role to emergency physicians, strokes must always be taught regarding elderly patients and, if necessary, infarct areas should be confirmed with DWI-MR.
ABSTRACT
Acute non-traumatic weakness may be life-threatening if it involves the respiratory muscles and/or is associated with autonomic dysfunction. Most patients presenting with acute muscle weakness have a worsening neurological disorder that requires a rapid, systematic evaluation and detailed neurological exam to localize the disorder. Urgent laboratory tests and neuroimaging are needed to confirm the diagnosis. Because acute weakness is a common presenting sign of neurological emergencies, it was chosen as an Emergency Neurological Life Support protocol. Causes of acute non-traumatic weakness are discussed here by both presenting clinical signs and anatomical location. For each diagnosis, key features of the history, examination, investigations, and treatment are outlined in the included tables or in the "Appendix".
Subject(s)
Airway Management/methods , Clinical Protocols , Emergency Medical Services/methods , Muscle Weakness , Nervous System Diseases , Neurology , Practice Guidelines as Topic , Resuscitation/methods , Airway Management/standards , Clinical Protocols/standards , Emergency Medical Services/standards , Humans , Muscle Weakness/diagnosis , Muscle Weakness/etiology , Muscle Weakness/therapy , Nervous System Diseases/complications , Nervous System Diseases/diagnosis , Nervous System Diseases/therapy , Neurology/education , Neurology/methods , Neurology/standards , Practice Guidelines as Topic/standards , Resuscitation/standardsABSTRACT
OBJECTIVES: This review article aimed to present a clinical approach, emphasizing the diagnostic investigation, to children and adolescents who present in the emergency room with acute-onset muscle weakness. SOURCES: A systematic search was performed in PubMed database during April and May 2017, using the following search terms in various combinations: "acute," "weakness," "motor deficit," "flaccid paralysis," "child," "pediatric," and "emergency". The articles chosen for this review were published over the past ten years, from 1997 through 2017. This study assessed the pediatric age range, from 0 to 18 years. SUMMARY OF THE DATA: Acute motor deficit is a fairly common presentation in the pediatric emergency room. Patients may be categorized as having localized or diffuse motor impairment, and a precise description of clinical features is essential in order to allow a complete differential diagnosis. The two most common causes of acute flaccid paralysis in the pediatric emergency room are Guillain-Barré syndrome and transverse myelitis; notwithstanding, other etiologies should be considered, such as acute disseminated encephalomyelitis, infectious myelitis, myasthenia gravis, stroke, alternating hemiplegia of childhood, periodic paralyses, brainstem encephalitis, and functional muscle weakness. Algorithms for acute localized or diffuse weakness investigation in the emergency setting are also presented. CONCLUSIONS: The clinical skills to obtain a complete history and to perform a detailed physical examination are emphasized. An organized, logical, and stepwise diagnostic and therapeutic management is essential to eventually restore patient's well-being and full health.
Subject(s)
Emergency Service, Hospital , Muscle Weakness/diagnosis , Muscle Weakness/etiology , Acute Disease , Child , Diagnosis, Differential , Humans , Physical ExaminationABSTRACT
The mitochondrial pyruvate dehydrogenase enzyme complex (PDHC) plays an important role in aerobic energy metabolism and acid-base equilibrium. PDHC contains of 5 enzymes, 3 catalytic (E1, E2, E3) and 2 regulatory, as well as 3 cofactors and an additional protein (E3-binding protein) encoded by nuclear genes. The clinical presentation of PDHC deficiency ranges from fatal neonatal lactic acidosis to chronic neurologic dysfunction without lactic acidosis. Paroxysmal neurologic problems such as intermittent ataxia, episodic weakness, exercise-induced dystonia and recurrent demyelination may also be seen although they are rare. Here, we present an 8-year-old boy complaining of acute proximal muscle weakness of upper and lower extremities with normal mental status. He had a history of Guillain-Barré-like syndrome at the age of 2 years. Electrophysiologic studies showed sensorial polyneuropathy findings in the first attack and sensorimotor axonal polyneuropathy findings in the last attack. The genetic analysis revealed a previously reported hemizygote novel mutation of the PDHA1 gene (p.A353T/c.1057G > A), which encodes the E1α subunit of PDHC. Thiamine was ordered (15 mg/kg/day), dietary carbohydrates were restricted and clinical findings improved in a few weeks. This rare phenotype of PDHC deficiency is discussed.
Subject(s)
Acidosis, Lactic/physiopathology , Extremities/physiopathology , Muscle Weakness/physiopathology , Pyruvate Dehydrogenase (Lipoamide)/deficiency , Acidosis, Lactic/complications , Child , Humans , Male , Muscle Weakness/etiologyABSTRACT
Abstract Objectives: This review article aimed to present a clinical approach, emphasizing the diagnostic investigation, to children and adolescents who present in the emergency room with acute-onset muscle weakness. Sources: A systematic search was performed in PubMed database during April and May 2017, using the following search terms in various combinations: "acute," "weakness," "motor deficit," "flaccid paralysis," "child," "pediatric," and "emergency". The articles chosen for this review were published over the past ten years, from 1997 through 2017. This study assessed the pediatric age range, from 0 to 18 years. Summary of the data: Acute motor deficit is a fairly common presentation in the pediatric emergency room. Patients may be categorized as having localized or diffuse motor impairment, and a precise description of clinical features is essential in order to allow a complete differential diagnosis. The two most common causes of acute flaccid paralysis in the pediatric emergency room are Guillain-Barré syndrome and transverse myelitis; notwithstanding, other etiologies should be considered, such as acute disseminated encephalomyelitis, infectious myelitis, myasthenia gravis, stroke, alternating hemiplegia of childhood, periodic paralyses, brainstem encephalitis, and functional muscle weakness. Algorithms for acute localized or diffuse weakness investigation in the emergency setting are also presented. Conclusions: The clinical skills to obtain a complete history and to perform a detailed physical examination are emphasized. An organized, logical, and stepwise diagnostic and therapeutic management is essential to eventually restore patient's well-being and full health.
Resumo Objetivos: Apresentar uma abordagem clínica, enfatizar a investigação diagnóstica, voltada para crianças e adolescentes no pronto-socorro com fraqueza muscular de surgimento agudo. Fontes: Foi feita uma pesquisa sistemática na base de dados PubMed entre abril e maio de 2017, com os seguintes termos de pesquisa em várias combinações: "agudo", "fraqueza", "déficit motor", "paralisia flácida", "criança", "pediátrico" e "emergência". Os trabalhos escolhidos para esta revisão foram publicados nos últimos dez anos, de 1997 a 2017. Este trabalho aborda a faixa etária pediátrica, até 18 anos. Resumo dos dados: O déficit motor agudo é uma causa razoavelmente comum para crianças e adolescentes procurarem o pronto-socorro. Os pacientes podem ser classificados como com deficiência motora localizada ou difusa e uma descrição precisa das características clínicas é essencial para possibilitar um diagnóstico diferenciado completo. As duas causas mais comuns de paralisia flácida aguda no pronto-socorro pediátrico são síndrome de Guillain-Barré e mielite transversa, independentemente de outras etiologias serem consideradas, como encefalomielite disseminada aguda, mielite infecciosa, miastenia grave, derrame, hemiplegia alternante da infância, paralisia periódica, encefalite do tronco encefálico e fraqueza muscular funcional. Os algoritmos da investigação de fraqueza aguda localizada ou difusa na configuração de emergência também são apresentados. Conclusões: São enfatizadas as habilidades clínicas para obter um histórico completo e fazer um exame físico detalhado. Um manejo diagnóstico e terapêutico organizado, lógico e por etapas é essencial para eventualmente restaurar o bem-estar e a saúde total do paciente.
Subject(s)
Humans , Child , Muscle Weakness/diagnosis , Muscle Weakness/etiology , Emergency Service, Hospital , Physical Examination , Acute Disease , Diagnosis, DifferentialABSTRACT
Weakness is a common complaint in the emergency department, and a most challenging one, because before the emergency physician can proceed with an evaluation, the complaint of weakness must be fully clarified to determine about what the patient is actually complaining. This article will focus on causes of acute generalized nontraumatic bilateral weakness. Evaluation begins with the history and physical examination, followed by diagnostic testing in some cases.
Subject(s)
Emergency Service, Hospital , Muscle Weakness/diagnosis , Acute Disease , Diagnosis, Differential , Humans , Muscle Weakness/etiology , Muscle Weakness/therapy , Physical ExaminationABSTRACT
Acute non-traumatic weakness may be life threatening if it involves the respiratory muscles or is associated with autonomic dysfunction. Most patients presenting with acute muscle weakness have a worsening neurological disorder that requires a rapid, systematic evaluation, and detailed neurological exam to localize the disorder. Urgent laboratory tests and neuroimaging are needed in many patients to make the diagnosis. Because acute weakness is a common presenting sign of neurological emergencies, it was chosen as an Emergency Neurological Life Support protocol. Causes of acute non-traumatic weakness are discussed by both presenting clinical signs and anatomical location. For each diagnosis, key features of the history, examination, investigations, and treatment are outlined in the included tables.
