GM1 Gangliosidosis Type 1 (Severe Infantile Type)

(Caffey Pseudo-Hurler Syndrome, Familial Neuorvisceral Lipidosis)

• Infancy onset neurodegernation and skeletal abnormalities
• Hypotonia, seizures, dysmorphism, organomegaly
• Rapid psychomotor deterioration starting around 6 months old

• Cherry-red spot (50%)
• Nystagmus
• Tortuous conjunctival vessels with saccular aneurysms
• Papilledema
• Optic atrophy
• Corneal clouding- rare
• High Myopia

• 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

• 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)

• Pediatric Ophthalmology and Strabismus eds. Wright KW, Spiegel PH. 2nd ed. p. 971, 1039
• OMIM