Sociodemographic and clinical characteristics and access to health care in patients with spinal muscular atrophy in Argentina.

The FAME registry gathers the majority of patients with SMA in Argentina. From it, the clinical, sociodemographic and access to treatment characteristics were analyzed in 322 patients (range 8 months-61 years) included from 2008 to 2021. Important data were obtained for the planning of medical care of these patients such as: similar distribution of patient care in public and private hospitals, time gap between onset of symptoms and diagnoses, low level of completion of SMN2 copy count, estimate of 16 new diagnoses per year between 2014 and 2018, and 68% of patient in specific pharmacological treatment.

Clinical presentation of the first demyelinating event in pediatrics / [Presentación clínica de primer evento desmielinizante en pediatría.]

Introduction: Isolated Clinical Syndrome (ACS) refers to the first clinical event with characteristics suggestive of multiple sclerosis (MS). Clinical case: We report the case of a previously healthy 8-year-old male patient hospitalized for altered gait with suspicion of transverse myelitis. Spinal MRI was performed showing evidence of hyperintense D3-D5 lesion in T2. He receives treatment with intravenous corticosteroid therapy and with the result of oligoclonal bands in serum and CSF, a diagnosis of ACS is made. Conclusion: The objective is to describe a rare form of manifestation of demyelinating disease in pediatric age and to assess the importance of timely diagnosis and treatment.

Introducción: El síndrome Clínico Aislado (SCA) hace referencia al primer evento clínico con características sugestivas de esclerosis múltiple (EM). Caso clínico: Se comunica el caso de un paciente masculino de 8 años previamente sano internado por alteración de la marcha con sospecha de mielitis transversa. Se realiza RMN medular donde se evidencia lesión en D3-D5 hiperintensa en T2. Recibe tratamiento con corticoterapia endovenosa y con resultado de bandas oligoclonales en suero y LCR se realiza diagnóstico de SCA. Conclusión: El objetivo es describir una forma poco frecuente de manifestación de enfermedad desmielinizante en la edad pediátrica y valorar la importancia del diagnóstico y tratamiento oportuno.

Sindrome de Guillain-Barre variante axonal en pediatria: reporte de caso / Guillain-Barre Syndrome axonal variant in pediatrics: case report

RESUMEN El síndrome de Guillain-Barré es una polirradiculoneuropatía inflamatoria aguda, caracterizada por debilidad simétrica de carácter progresivo, de inicio distal asociado con arreflexia y síntomas sensitivos leves. La variante NMAA es una entidad poco frecuente en América Latina. Se reporta el caso de un paciente de sexo masculino, de seis años, previamente sano, con diagnóstico de síndrome de Guillain-Barré variante axonal, secundario a cuadro de vías aéreas superiores. La importancia del reporte radica en informar al pediatra y a otros profesionales de la salud acerca de la existencia de esta entidad y así aumentar la sospecha diagnóstica, considerando su baja incidencia. Se destaca también la posibilidad de encontrar variabilidad en las formas clínicas típicas de presentación, como lo fue el caso presentado, ya que es un subtipo de la enfermedad que está clásicamente caracterizada como grave, de evolución tórpida y con frecuentes secuelas.

SUMMARY Guillain-Barre syndrome is an acute inflammatory polyradiculoneuropathy characterized by progressive symmetric weakness of distal onset associated with areflexia and mild sensory symptoms. The AMAN variant is a rare entity in Latin America. The case of a 6-year-old male patient, previously healthy, with a diagnosis of Guillain-Barre Syndrome, axonal variant, secondary to upper airway symptoms, is reported. The importance of the report lies in informing the pediatrician and other health professionals about the existence of this entity and thus increasing the diagnostic suspicion considering its low incidence. We also highlight the possibility of finding variability in the typical clinical forms of presentation, as was the case presented, since it is a subtype of the disease that is classically characterized as severe and with torpid evolution. It is also associated with frequent sequelae.