Progressive encephalomyelitis with rigidity and myoclonus: a pediatric case report and literature review.
BMC Pediatr
; 24(1): 427, 2024 Jul 03.
Article
em En
| MEDLINE
| ID: mdl-38961420
ABSTRACT
BACKGROUND:
Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare and life-threatening autoimmune disease of the central nervous system. So far, only ten cases of PERM have been reported in children worldwide, including the one in this study. CASE PRESENTATION We report a case of an 11-year-old boy with PERM with an initial presentation of abdominal pain, skin itching, dysuria, urinary retention, truncal and limb rigidity, spasms of the trunk and limbs during sleep, deep and peripheral sensory disturbances, and dysphagia. A tissue-based assay using peripheral blood was positive, demonstrated by fluorescent staining of mouse cerebellar sections. He showed gradual and persistent clinical improvement after immunotherapy with intravenous immunoglobulin, steroids, plasmapheresis and rituximab.CONCLUSIONS:
We summarized the diagnosis and treatment of a patient with PERM and performed a literature review of pediatric PERM to raise awareness among pediatric neurologists. A better comprehension of this disease is required to improve its early diagnosis, treatment, and prognosis.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Encefalomielite
/
Rigidez Muscular
/
Mioclonia
Limite:
Child
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article