Myoclonus epilepsy with ragged-red fibers
Jun. 10, 2021
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This article includes discussion of Fejerman syndrome, benign myoclonus of early infancy, and benign nonepileptic infantile spasms. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.
Benign myoclonus of early infancy, named Fejerman syndrome, is a nonepileptic disorder that mainly affects normal infants aged 3 to 8 months. It manifests with frequent or repeated jerks of the neck or upper limb muscles and leads to abrupt flexion or rotation of the head and extension with abduction of the limbs without changes in consciousness. In some patients, a brief tonic or nonepileptic spasm with flexion of the upper limbs is observed. A small group of infants may present with head drops or loss of tone in the trunk, suggestive of nonepileptic atonia or a negative myoclonus. In a significant number of patients the movements are described as shuddering of the head, shoulders, or upper limbs. Fejerman syndrome is an entirely benign condition that usually remits by the age of 2 years. There is no need for treatment other than reassuring the parents. The problem with Fejerman syndrome is that it maybe misdiagnosed as epileptic spasms. In this updated article, the author details this condition and provides clues for differentiating it from other epileptic and nonepileptic disorders of infancy.
• Fejerman syndrome is a nonepileptic paroxystic disease in infants with a broad motor-clinical spectrum and a benign course.
• West syndrome and epileptic spams in clusters without hypsarrhythmia are the most important differential diagnosis.
• The etiology of Fejerman syndrome is not well known; however, a genetic etiology should be considered.
In 1976, Fejerman presented as benign myoclonus of early infancy 10 infants with fits somehow resembling infantile spasms but with clinical and EEG features and an evolution that allowed clear differentiation from West syndrome (11; 12; 12). These cases were later included in another report by Lombroso and Fejerman, and 8 new personal cases were added to the series by 1984 (Lombroso and 12; 13). Fejerman and Caraballo expanded their personal series to 41 patients who were followed between 2 and 34 years up to 2002 (15). Brief series of cases were reported throughout the world (19; 10; 06; 24; 26; Pachatz et al 2002; 25; 17). Regarding the mechanisms underlying these paroxysmal movements in infants, several brief series of patients were reported, including video-EEG recordings to support the nonepileptic nature of the condition (19; 10; 26; 20; 25; 28). Caraballo and colleagues analyzed the clinical spectrum of 102 patients, and Dalla Bernardina in an editorial on this last paper, proposed to name the entity Fejerman syndrome in honor of the significant contribution of Dr. Fejerman to the identification of the syndrome over many years (02; 07).
A case carrying a PRRT2 mutation and with benign infantile epilepsy presenting with an episode of focal status epilepticus has been published. During follow-up the patient developed benign myoclonus of early infancy or Fejerman syndrome (23). At our center, we studied 4 patients with benign infantile epilepsy associated with Fejerman Syndrome. Genetic studies were not performed in these 4 patients.
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