Developmental and epileptic encephalopathy related to mutations in the SYNGAP1 gene (EED-SYNGAP1) is characterized by psychomotor delay and early-onset epilepsy. We present the first documented case in Ecuador, describing the clinical, electroencephalographic, therapeutic, and evolutionary characteristics of the patient. Genetic diagnosis revealed a de novo nonsense mutation in SYNGAP1. Treatment with valproic acid showed good control of epileptic seizures, although reflex seizures persisted during feeding. This case highlights the importance of genetic studies in the diagnosis of epileptic and developmental encephalopathies.
case report
Encefalopatía Epiléptica y del Neurodesarrollo por Mutación en SYNGAP1: Primer Caso Reportado en Ecuador. Developmental and Epileptic Encephalopathy due to SYNGAP1 Mutation: First Case Reported in Ecuador.
Palabras clave: Caso Clínico,
Encefalopatía epiléptica,
Epilepsia Refleja,
SYNGAP1,
Trastorno del Neurodesarrollo,
Síndrome de Fahr e hipoparatiroidismo. Fahr syndrome and hypoparathyroidism.
Introduction: Fahr’s disease is a rare pathology characterized by brain calcinosis syndrome, usually found incidentally and late in individuals with neurological and psychiatric symptoms, with these manifestations from an early age. It is a genetic disorder of unclear etiology of autosomal dominant behavior and can be a ssociated with metabolic, hereditary, or acquired etiology.
Objective: To present the case of a patient with Fahr’s disease treated in a second-level regional hospital in a rural area of central Andean Colombia.
Clinical case: This is a 54-year-old woman who consulted for the first seizure episode, with a significant pathological history of schizophrenia and a family history of maternal Alzheimer’s. Simple cerebral computed tomography was performed, which reported multiple periventricular calcifications and symmetric calcifications at the level of the basal ganglia with hypocalcemia and hypoparathyroidism.
Conclusions: Fahr’s disease is a rare entity, however, it is important to suspect and know about it early; Diagnostic images are essential for detection, and the search for differential diagnoses or associated metabolic causes is important for treating these patients in a timely and adequate manner.
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Palabras clave: calcificaciones,
Convulsiones,
hipoparatiroidismo,
reporte de caso,
Síndrome de Fahr,
From hypokinesia to hyperkinesia: An 86-year-old-woman with abnormal movements. De hipocinesia a hipercinesia: Mujer de 86 años con movimientos anormales
An 86-year-old woman presented with an acute onset of confusion, garbled speech, and decreased left arm movement. On exam, she had a forced right gaze, left homonymous hemianopsia, left hemiparesis, and left face and arm hypoesthesia. Forty-eight hours after successful revascularization therapies, the patient started complaining of abnormal involuntary movements. This manuscript discusses the phenomenology of these involuntary movements, their neuroanatomical correlates, management, and evolution. Neurologists should be mindful of post-stroke movement disorders, their latency period after stroke, and the functional-anatomic networks involved.
