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| gm1_gangliosidosis [2017/02/11 23:02] – Scott Larson | gm1_gangliosidosis [2025/04/18 20:40] (current) – external edit 127.0.0.1 | ||
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| (Caffey Pseudo-Hurler Syndrome, Familial Neuorvisceral Lipidosis) | (Caffey Pseudo-Hurler Syndrome, Familial Neuorvisceral Lipidosis) | ||
| - | ===== Main Features | + | ==== Main Features ==== |
| * Infancy onset neurodegernation and skeletal abnormalities | * Infancy onset neurodegernation and skeletal abnormalities | ||
| * Hypotonia, seizures, dysmorphism, | * Hypotonia, seizures, dysmorphism, | ||
| * Rapid psychomotor deterioration starting around 6 months old | * Rapid psychomotor deterioration starting around 6 months old | ||
| - | ===== Eye Findings | + | ==== Eye Findings ==== |
| * [[cherry_red_spot|Cherry-red spot (50%)]] | * [[cherry_red_spot|Cherry-red spot (50%)]] | ||
| * Nystagmus | * Nystagmus | ||
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| * High Myopia | * High Myopia | ||
| - | ===== Etiology | + | ==== Etiology ==== |
| * Defect in β-galactosidase-1, | * Defect in β-galactosidase-1, | ||
| * Diagnosis confirmed by assay of β-galactosidase in peripheral leukocytes | * Diagnosis confirmed by assay of β-galactosidase in peripheral leukocytes | ||
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| * Autosomal recessive | * Autosomal recessive | ||
| - | ===== Other Findings | + | ==== Other Findings ==== |
| * Facial and peripherial edema | * Facial and peripherial edema | ||
| * Kyposis, joint limitation, thick wrists, contractures of elbows and knees, claw hand | * Kyposis, joint limitation, thick wrists, contractures of elbows and knees, claw hand | ||
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| * Death usually in early infancy (by age 2) | * Death usually in early infancy (by age 2) | ||
| - | ===== References | + | ==== References ==== |
| * Pediatric Ophthalmology and Strabismus eds. Wright KW, Spiegel PH. 2nd ed. p. 971, 1039 | * Pediatric Ophthalmology and Strabismus eds. Wright KW, Spiegel PH. 2nd ed. p. 971, 1039 | ||
| * [[https:// | * [[https:// | ||
| {{tag> | {{tag> | ||