Publications by authors named "T Foiadelli"
Hypertrophic cardiomyopathy (HCM) is rare in childhood, but it is associated with significant morbidity and mortality. Genetic causes of HCM are mostly related to sarcomeric genes abnormalities; however, syndromic, metabolic, and mitochondrial disorders play an important role in its etiopathogenesis in pediatric patients. We here describe a new case of apparently isolated HCM due to mitochondrial assembly factor gene NDUFAF1 biallelic variants (c.
View Article and Find Full Text PDFBackground: Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome, is a rare genetic disorder, caused by mutations in the ATRX gene. Clinical manifestations include typical facial dysmorphisms, mild-to-severe intellectual disability, hypotonia, genital anomalies, significant gastrointestinal (GI) complications, such as abdominal distension, chronic constipation, feeding difficulties, gastroesophageal reflux, and mild-to-moderate anemia secondary to alpha-thalassemia.
Case Presentation: We report a patient with ATR-X syndrome suffering from gastrointestinal dysmotility and highlight the beneficial effects of pyridostigmine.
Article Synopsis
- Developmental and epileptic encephalopathies (DEE) are disorders that can be caused by new mutations in a specific gene, leading to different symptoms, from severe conditions to milder ones like autism.
- A case study of a six-year-old boy showed he had a new mutation in that gene, but he did not develop epilepsy and had a normal brain scan over five years.
- This case helps us understand that not everyone with mutations in this gene will have serious problems, which is important for doctors to know when diagnosing developmental delays.
Sydenham's chorea (SC), an autoimmune disorder affecting the central nervous system, is a pivotal diagnostic criterion for acute rheumatic fever. Primarily prevalent in childhood, especially in developing countries, SC manifests with involuntary movements and neuropsychiatric symptoms. Predominantly occurring between ages 5 and 15, with a female bias, SC may recur, particularly during pregnancy or estrogen use.
View Article and Find Full Text PDFArticle Synopsis
- The study investigates long-term epilepsy outcomes in pediatric patients who experienced acute central nervous system complications during hematopoietic cell transplantation (HCT).
- Data was collected from 94 patients, revealing that common acute complications included posterior reversible encephalopathy syndrome and infections, with a notable incidence of acute symptomatic seizures.
- Findings indicate that 9.6% of patients were diagnosed with long-term epilepsy, especially those who experienced acute symptomatic status epilepticus, highlighting the need for specialized neurological follow-up in these cases.