Hypokalemic Periodic Paralysis (HypoPP) is a rare disease whereby voltage-gated ion channels are mutated and it is characterized by episodic flaccid paralysis concomitant to variations in blood potassium levels. Attacks usually happen after exercise or high carbohydrate meals. The diagnosis is made with laboratory data wich helps to exclude other causes and confirm low potassium serum or myotonia on eletromyography (EMG). The case report shows a patient who had severe symptoms of HypoPP and had laboratory data of low potassium serum during attacks and EMG with features more common in Hyperkalemic Periodic Paralysis. It also presented a great reponse to therapeutic treatment with potassium reposition and acetazolamide.
Hereditary spastic paraparesis is a group of diseases that have as their main clinical aspect weakness and spasticity in the lower limbs, associated with a large number of genes, but involving a more restricted number of cellular functions that cause dysfunction of the neurons that make up the corticospinal tract. We will present a series of 3 cases of our service, mainly addressing the relation between the neuroimaging findings and the clinical alterations observed, with later literature review, showing the importance of this relationship, since not all services have a molecular diagnostic service when the acquired causes are removed.
The primary vasculitis of the central nervous system is still a controversial subject and in constant study for a better understanding of all its aspects. It is a pathophysiology disease that is not yet fully understood, and with probable immunological and biological mechanisms of very high complexity, which go beyond the current technical and scientific limits. Its clinical manifestations are challenging even for the most experienced neurologists, which requires, in addition to academic knowledge, a unique ability to interpret clinically and to weigh the results presented in complementary tests. This is because we do not have any non-invasive diagnostic tool that confirms, or discards, with full security, the possibility of VPSNC. In practice, the confirmatory examination is considered the gold standard and is still the brain biopsy, which is usually performed only in exceptional cases.
The dropped head syndrome (DHS) is a weakness of neck extension, leading to a typical presentation of the flexed head with the chin in contact with the chest wall. We report a case of a patient with DHS due to vasculitis of the CNS secondary to SLE and performed a brief review of the literature on the subject. SLE is a systemic disease with several neurological manifestations, the prompt recognition of these conditions usually leads to a better long-term prognosis from a functional point of view. We show the main complications and an example of a successful case due to the prompt care of the neurology and rheumatology.
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