Publications by authors named "S Savasta"
Background: 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.
Background: Houge-Janssens syndrome 1 is a condition with onset in early childhood caused by heterozygous pathogenic variants in the gene, which encodes a B56 regulatory subunit of the serine/threonine protein phosphatase 2A (PP2A). There is evidence that the PP2A-PPP2R5D complex is involved in regulating the phosphatidylinositol 3-kinase (PI3K)/AKT signalling pathway, which is crucial for several cellular processes, including the pathogenesis and progression of haemangiomas.
Case Presentation: We report the first -related neurodevelopmental disorder case from Sardinia, a child with transient hypoglycaemia, facial dysmorphisms, and multiple haemangiomas.
Article Synopsis
- - Neurofibromatosis type 1 (NF1) is a genetic disorder caused by a mutation that leads to issues like vascular and neurological abnormalities.
- - Serious complications can include moyamoya syndrome, which causes the progressive narrowing of brain arteries, and renal artery stenosis, a common cause of high blood pressure in NF1 patients.
- - The article reviews clinical cases of NF1 vasculopathy, focusing on diagnosis, management, and potential future strategies for screening and treatment options.
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.