- 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.
- Freezing of gait (FOG) in Parkinson's disease (PD) is disabling and frequently treatment-resistant . Cueing is initially effective but requires training, special devices and may paradoxically elicit FOG . Turning is the most common FOG trigger , however, few studies have focused on strategies specifically targeting FOG while turning (turning-FOG) [4,5]. Here, we present jumping as a potential strategy for selected PD patients to overcome treatment-resistant turning-FOG.
- To confirm that there is a diagnostic delay in Parkin-related Parkinson Disease and to explore possible factors causing such a delay.
- Chorea and ballism both refer to random abrupt involuntary movements, with choreiform movements typically being more distal and of lower amplitude than ballism. Stroke and heritable diseases (including Huntington's disease) are well-known etiologies, although metabolic, infectious, inflammatory and drug-induced causes have also been decribed .
- 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 .
- Lingual myoclonus is an uncommon disorder, usually described in association with palatal myoclonus or other movement disorders involving oculofacial, diaphragmatic or shoulder muscles. Isolated lingual myoclonus, either episodic or continuous, is rare, with only a handful of cases reported in the literature [1,2]. Etiologies are diverse, ranging from secondary lesions of the brainstem region to focal cortical seizures [1,2]. We present a case of epileptic lingual myoclonus in the context of HIV infection.
- 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.