Gaucher's disease is a lysosomal storage disorder caused by the deficiency of glucocerebrosidase. Gaucher's disease has three clinical types: non-neuronopathic (Type 1), Acute Neuropathic (Type 2) and chronic neuronopathic (Type 3). The chronic neuronopathic (Type 3) is characterised by a variety of disease variants with onset in childhood with hepatomegaly, skeletal lesions and later slow horizontal saccades, treatment-resistant generalised tonic-clonic and myoclonic seizures, dementia, progressive spasticity, cognitive deterioration, ataxia and death in the second or third decade of life.
We present a case of beta-propeller protein-associated neurodegeneration, a form of neurodegeneration with brain iron accumulation. The patient harbored a novel mutation in the WDR45 gene. A detailed video and description of her clinical condition are provided. Her movement disorder phenomenology was characterized primarily by limb stereotypies and gait dyspraxia. The patient's disability was advanced by the time iron-chelating therapy with deferiprone was initiated, and no clinical response in terms of cognitive function, behavior, speech, or movements were observed after one year of treatment.
Alien hand syndrome (AHS) is a rare post-stroke complication. Although the occurrence of AHS after stroke is rare, it can have a disabling impact on the lifestyle and career of the patients post stroke. It is difficult to distinguish AHS from the non-dominant hemispheric infarction with symptoms of hemianopia and left hemineglect, as patients with AHS can also have neglect as well as behaviour symptoms if the frontal lobe is involved. We report the case of a 62-year-old gentleman who was admitted to the rehabilitation ward and was treated for neglect and apraxia following right middle cerebral artery stroke. After further re-evaluation, the patient was diagnosed with AHS. Functionally, he improved and the symptoms disappeared four months after the stroke. In this case report, we highlight the features of AHS and provide a unique management approach.