- The possible differential diagnoses for children presenting with kyphoscoliosis, skeletal deformities and ophthalmoplegia are diverse. We present 11-year-old identical twins with these symptoms, with interesting etiological concern for those practicing in the fields of neurology, pediatrics, spine surgery and related specialties. A new presentation for a rare genetic condition was the final diagnosis for our patients. In this movement disorder round we describe our approach to this clinical constellation and discuss clinical significance of this genetic condition.
- To confirm that there is a diagnostic delay in Parkin-related Parkinson Disease and to explore possible factors causing such a delay.
- Beta-propeller protein associated neurodegeneration (BPAN) is classified among the neurodegeneration with brain iron accumulation (NBIA) diseases. It is the only one with an X-linked dominant mode of inheritance resulting from mutations in the WDR45 gene at Xp11.23 [1,2]. Most patients are females and to date all detected mutations have been de novo .
- Oculogyric crises (OGCs) are categorized among the dystonias and present with episodes of tonic eye and neck deviation. These paroxysmal movements usually last a few minutes to hours . There is a long list of etiologies for OGCs, which can be categorized into 3 major groups, i.e., drugs, structural brain lesions and neurometabolic and neurodegenerative diseases [1,2]. Disorders classified as neurodegeneration with brain iron accumulation (NBIA) are a rare cause of OGCs [3,4]. Herein we report a patient with PLA2G6 associated neurodegeneration (PLAN) due to a homozygous mutation in PLA2G6 who developed OGCs.