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http://dx.doi.org/10.1002/ijgo.15292 | DOI Listing |
Cureus
November 2024
Internal Medicine-Pediatrics, University of California Los Angeles, Los Angeles, USA.
Acute intermittent porphyria (AIP) is a rare inherited metabolic disorder caused by decreased activity of the enzyme porphobilinogen deaminase in the heme synthesis pathway. This leads to the accumulation of toxic porphyrin precursors, such as porphobilinogen and δ-aminolevulinic acid. Clinical manifestations typically include episodic bouts of severe neurovisceral pain and autonomic dysfunction.
View Article and Find Full Text PDFFront Cardiovasc Med
December 2024
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China.
Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited arrhythmia disorder characterized by ventricular arrhythmia triggered by adrenergic stimulation.
Case Presentation: A 9-year-old boy presented with convulsions following physical exertion. Bidirectional ventricular tachycardia (VT) during a treadmill test led to the diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT).
Cureus
November 2024
Department of Pediatrics, Mahatma Gandhi Mission (MGM) Medical College and Hospital, Aurangabad, IND.
Background Hereditary angioedema (HAE) is a rare disorder in India, and while prevalence data is limited, it is believed that a significant number of individuals may be affected. Due to restricted access to first-line treatments, older therapies like danazol are commonly used despite associated risks in resource-constrained settings. This study aimed to assess the efficacy of danazol as an affordable long-term prophylaxis (LTP) for HAE in a three-generation family.
View Article and Find Full Text PDFAutophagy Rep
December 2024
Université Paris Cité, INSERM, CNRS, Institut Necker Enfants Malades, F-75015 Paris, France.
Patients with pathogenic variants in the gene suffer from severe and recurrent rhabdomyolysis episodes precipitated by fasting. Autophagy functioning was analyzed , in primary skeletal myoblasts from TANGO2 patients, in basal and fasting conditions, and mutations were associated with reduced LC3-II levels upon starvation. In zebrafish larvae, inhibition induced locomotor defects which were exacerbated by exposure to atorvastatin, a compound known to cause rhabdomyolysis.
View Article and Find Full Text PDFOrphanet J Rare Dis
December 2024
Department of Pathology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Zhongshan Road 321#, Nanjing, 210008, Jiangsu, China.
Background And Objectives: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder that mostly affects the central nervous system and skeletal muscle. This study provides a comprehensive summary of the clinical symptoms, multisystemic pathogenesis, and genetic characteristics of MELAS syndrome. The aim was to improve comprehension of clinical practice and gain a deeper understanding of the latest pathophysiological theories.
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