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Effective treatment of choreaballism due to an MT ‐CYB variant with haloperidol, tetrabenazine, and antioxidants
Cerebral CT showing bilateral putaminal calcifications of a patient with multisystem mitochondrial disorder due to the variant 15043G  >  A inMT-CYB. Key Clinical MessageHypokinetic and hyperkinetic movement disorders are a common phenotypic feature of mitochondrial disorders. Choreaballism has been reported particularly in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome and in maternally inherited diabetes and deafness syndrome. The pathophysiological basis of movement disorders in mitochondrial disorders is the involvement of the basal ganglia or the midbrain. Haloper...
Source: Clinical Case Reports - June 21, 2023 Category: General Medicine Authors: Josef Finsterer, Ritwik Ghosh Tags: CASE REPORT Source Type: research

Proctalgia and constipation secondary to hypertrophic polyglucosan inclusion body myopathy of the internal anal sphincter: a case report
ConclusionsHereditary polyglucosan inclusion body myopathy of the internal anal sphincter should be considered in the differential diagnosis of a patient presenting with severe anal pain and constipation in the absence of an anal fissure or sepsis. If medical therapy with calcium antagonists fails to provide symptom relief, lateral internal sphincterotomy should be considered rather than botulinum toxin injection.
Source: Journal of Medical Case Reports - October 24, 2018 Category: General Medicine Source Type: research

Severe Hypocalcemia and Extreme Elevation of Serum Creatinkinase in a 16-Year Old Boy with Pseudohypoparathyroidism Type Ib.
In conclusion, manifest tetany and even mild myopathy with very high S-CK can occur in hypocalcemic patients and usually resolves after normalization of hypocalcemia. PMID: 30216183 [PubMed - in process]
Source: Acta Medica: Hradec Kralove - September 16, 2018 Category: General Medicine Tags: Acta Medica (Hradec Kralove) Source Type: research

Bartter syndrome-like phenotype in a patient with diabetes: a case report
ConclusionsPatients presenting with body weakness need serum potassium estimation. Acquired Bartter ’s syndrome although rare, should be ruled out in those with hypokalemia and metabolic alkalosis with increased urinary potassium loss with poor response to potassium replacement.
Source: Journal of Medical Case Reports - August 17, 2018 Category: General Medicine Source Type: research