Thelansis

 Krabbe Disease (KD) is a neurodegenerative disorder inherited in an autosomal recessive pattern, stemming from a deficiency in the lysosomal enzyme galactocerebrosidase. The responsible gene, GALC, is located on chromosome 14q31.3. Typical symptoms of the "early infantile" or "early onset" form of KD include feeding difficulties, hyperirritability, periodic fever of unknown origin, psychomotor regression, and convulsive seizures. The ophthalmological examination may reveal macular cherry red spots. As the disease progresses, patients enter a stage known as "burnout," characterized by blindness, muscle weakness, and loss of voluntary movements, with some experiencing microcephaly or macrocephaly depending on disease progression. Manifestations occur at various ages: 10% of cases present between 7–12 months, 22% between 13 months and 10 years, and 5% manifest in adolescence or adulthood. KD is categorized into four clinical subtypes based on the age of onse...

 Krabbe Disease (KD) is an autosomal recessive neurodegenerative disorder caused by a lysosomal enzyme galactocerebrosidase deficiency. GALC, the gene that encodes galactocerebrosidase, is found on chromosome 14q31.3. Feeding difficulties, hyperirritability, episodic fever of unknown origin, psychomotor regression, and convulsive seizures are typical clinical features of "early infantile" or "early onset" Krabbe disease. Fundoscopic inspection can reveal macular cherry red spots. Later, patients with early onset Krabbe Disease (KD) reach the “burnout” stage with blindness, hypotonia, and decerebration without any voluntary movements. Both microcephaly and macrocephaly occur depending on the disease stage. ·        In 2020, the estimated Krabbe disease (KD) prevalence ranged between 1.5 to 1.75 cases per 100,000 population. ·        10% of patients manifested at 7–12 months, 22% between 13 months and ten years, and 5% w...