Thelansis

  Fucosidosis is an uncommon lysosomal storage ailment marked by the widespread accumulation of glycolipids and oligosaccharides enriched with fucose within various tissues. Patients display a broad array of clinical traits encompassing intellectual impairment, developmental lag accompanied by a regression in psychomotor skills, bone irregularities, enlarged internal organs, excessive sweating, and anomalies in skin condition. The disease manifests across a spectrum ranging from a swiftly progressing severe form that typically emerges around 6 months of age (type I) to a more moderate variant with a gradual course (type II). Clinical indications include neurological impairment leading to cognitive deficiency, regression in psychomotor abilities, speech impediments, difficulty in posture and walking, seizures, and spasticity. Distinct facial features, stunted growth, and skin irregularities like angiokeratomas frequently accompany these symptoms. Additional manifestations encompas...