GM1 gangliosidosis in Child
The disorder progressively damages neurons in the brain and spinal cord. The disease occurs in 1 of 200 000 newborns. Gangliosidoses are autosomal recessive disorders. There are infant, juvenile, and adult forms, but all 3 forms of the disease result from the same gene mutation. This condition is terminal and leads to premature death, with the exception of some adult cases.
A key sign in infants is that they appear floppy and develop seizures and spasticity as they grow. Extensive blue-gray spots / congenital dermal melanocytosis (covering the sacral to extrasacral area) have been described in infants with GM1 gangliosidosis type 1 but are typically an isolated finding. The vertebrae also become abnormally curved as scoliosis develops. Death usually occurs in early childhood.
E75.19 – Other gangliosidosis
238025006 – GM1 Gangliosidosis
330.1 – Cerebral lipidoses
Differential Diagnosis & Pitfalls