====== GM1 Gangliosidosis Type 1 (Severe Infantile Type) ======
(Caffey Pseudo-Hurler Syndrome, Familial Neuorvisceral Lipidosis)

==== Main Features ====
  * Infancy onset neurodegernation and skeletal abnormalities
  * Hypotonia, seizures, dysmorphism, organomegaly
  * Rapid psychomotor deterioration starting around 6 months old

==== Eye Findings ====
  * [[cherry_red_spot|Cherry-red spot (50%)]]
  * Nystagmus
  * Tortuous conjunctival vessels with saccular aneurysms
  * Papilledema
  * Optic atrophy
  * Corneal clouding- rare
  * High Myopia

==== Etiology ====
  * Defect in β-galactosidase-1, all three isoenzymes are deficient (A,B and C)
  * Diagnosis confirmed by assay of β-galactosidase in peripheral leukocytes
  * Prenatal diagnosis on cultured amniotic fluid cells
  * Gene map locus: 3p21.33
  * Autosomal recessive

==== Other Findings ====
  * Facial and peripherial edema
  * Kyposis, joint  limitation, thick wrists, contractures of elbows and knees, claw hand
  * Congestive heart failure, hepatosplenomegaly
  * Death usually in early infancy (by age 2)

==== References ====
  * Pediatric Ophthalmology and Strabismus eds. Wright KW, Spiegel PH. 2nd ed. p. 971, 1039
  * [[https://www.omim.org/entry/230500|OMIM]]

{{tag>syndrome}}