introduction: behcet's disease is a chronic disease with multisystem involvement characterized clinically by oral and genital aphthae, cutaneous lesions and ophthalmologic, neurologic and gastrointestinal manifestation. nervous system involvement occurs in 5.3 – 30% of patients, mostly in brain stem and basal ganglia. the common manifestations are pyramidal signs, central nervous plegia, p...

PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome is a rare early-onset autoinflammatory disease associated with various hematologic findings, including chronic neutropenia and pancytopenia. We report unique case of PAMI in toddler transfusion-dependent hemolytic anemia, hepatosplenomegaly, failure to thrive, developmental delay, multiple malformations. Because acute i...

Joubert syndrome (JS) is an autosomal recessive disorder that is described in patients with cerebellar ataxia, mental retardation, hypotonia, and neonatal respiratory dysregulation. Kidney involvement (nephronophthisis or cystic renal dysplasia) is associated with JS in one fourth of known cases. Mutations in three genes--AHI1, NPHP1, and NPHP6--have been identified in patients with JS. However...

in pott’s disease (tuberculous spondylitis), involvement of two separate levels of spine is rare. attention to stability of spine prevents delayed progressive kyphosis. a 12-year-old girl presented with neck pain, tenderness and swelling imaging showed cl—c2 and t9-t10 and destruction. mild spastic paraparesis was noticed. preoperative diagnosis was metastasis. t9, t10 and t11 laminectomy and c...

the hereditary ataxias comprise a wide spectrum of heterogeneous disorders that share three features: ataxia, involvement of cerebellum or its connections, and heritability. in many hereditary ataxias, the underlying gene mutations have been identified. knowledge of the causative mutations allows a rational classification of hereditary ataxias as autosomal recessive, autosomal dominant or mater...

Introduction: Although multiple neurologic manifestations associated with SARS-CoV-2 infection have been described in adults, there is little information about those presented children. Here, we COVID-19 the pediatric population. Methods: Retrospective case series report. We included patients younger than 18 years, admitted confirmed and at our hospital Santiago, Chile. Demographics, clinical p...

purpose: to report three cases of classic cranial syndromes with involvement of the third and sixth nerves with comparison of their clinical and radiological findings and results of treatment. case report: three patients were referred to labbafinejad strabismus clinic because of diplopia and eye deviation after an attack of eclampsia (one case) and head trauma (two cases). they had extraocular ...

Background Juvenile Systemic Lupus Erythematosus (SLE) is an autoimmune disease with variable clinical features. Neurologic and psychiatric symptoms are reported to occur in 10 to 80 percent of patients either prior to the diagnosis of systemic lupus erythematosus, or during the course of their illness. The neuropsychiatric manifestations of SLE are varied, and may be classified as primary neur...

Paraneoplastic neurologic syndromes (PNSs) occur with increased frequency in patients with cancer and almost always antedate its diagnosis. These syndromes comprise a heterogeneous group of cancer‐related neurologic diseases, and they may affect any part of the nervous system. The simultaneous involvement of different areas of the nervous system by the paraneoplastic process is not unusual. Unt...

Myopathies are a heterogeneous group of disorders that can be challenging to diagnose. This review provides a diagnostic approach based predominantly on the clinical history and neurologic examination. Laboratory testing that can be used to confirm the suspected diagnosis based on this pattern recognition approach is also discussed. Careful consideration of the distribution of muscle weakness a...