Degenerative Syndromes

Question 1

Ferguson-Critchley Syndrome

Answer 1

Disorder of gaze or optic atrophy
+ leg spasticity
+ generalized ataxia
-dominant form is due to SAX1 mutation

Question 2

Behr Syndrome

Answer 2

Also known as optic atrophy ataxia syndrome
Autosomal recessive
Mutation in OPA3

Question 3

Kjellin Syndrome

Answer 3

Spastic paraplegia
\+ amyottophy
\+ oligophrenia
Central retinal degeneration
Mutations in SPG11 SPG15

Question 4

Troyer Syndrome

Answer 4

Spastic paraparesis
Distal muscle wasting
Autosomal recessive
Childhood onset
Amyotrophy of hands
Spasticity contractures of legs
\+/- cerebellar signs, athetosis, deafness

Mutation in SPG20

Question 5

Sjogren-Larsson Syndrome

Answer 5

Autosomal recessive
Onset in infancy
Spastic paraplegia
Developmental delay
Dementia

Icthyosis
Mutation in ALDH3A2 codes for fatty aldehyde dehydrogenase

Question 6

Triad of findings on ophthalmologic examination in a patient with retinitis pigmentosa?

Answer 6

Pigmentary deposit that assume the configuration of bone corpuscles

Attenuated vessels

Optic disc pallor

Question 7

Usher syndrome

Answer 7

Hereditary hearing loss
+ retinitis pigmentosa
+ congenital hearing loss

Question 8

Refsum syndrome

Answer 8

Hereditary hearing loss
+ retinitis pigmentosa
+ polyneuropathy

Question 9

Alstrom syndrome

Answer 9

Hereditary hearing loss
+ retinitis pigmentosa
+ hypogonadism and obesity

Question 10

Cockayne syndrome

Answer 10

Hereditary hearing loss
+ retinitis pigmentosa
+ dwarfism, mental retardation, premature senility, and photosensitive dermatitis

Question 11

Sylvester disease

Answer 11

Hereditary hearing loss
+ optic atrophy
+dominant optic atrophy,
ataxia, muscle wasting, and progressive hearing loss

Question 12

Rosenberg-Chutorian syndrome

Answer 12

Hereditary hearing loss
+ optic atrophy
+ polyneuropathy

Question 13

Tun-bridge-Paley syndrome

Answer 13

Hereditary hearing loss
+ optic atrophy
+ juvenile diabetes mellitus

Question 14

Nyssenvan Bogaert syndrome

Answer 14

Hereditary hearing loss
+ optic atrophy
+ opticocochleodentate degeneration
quadriparesis, and developmental delay

Question 15

Norrie disease

Answer 15

Hearing loss
retinal malformation
mental retardation

(oculoacousticocerebral degeneration)

Question 16

Small disease

Answer 16

hearing loss
narrowing of retinal vessels
mental retardation
muscle atrophy

Question 17

Susac syndrome

Answer 17

a microvasculopathy that causes characteristic changes in the white matter of the cerebral hemispheres, retinal vasculopathy, and progressive deafness

Question 18

Hermann disease

Answer 18

myoclonus

mental deterioration, hearing loss, and nephropathy

Question 19

May-White disease

Answer 19

autosomal dominant trait
myoclonus ataxia
hearing loss

Question 20

Latham-Monro disease

Answer 20

Congenital deafness

mild chronic epilepsy of recessive

Question 21

Teller-Sugar-Jaeger syndrome

Answer 21

hearing loss
piebaldism
ataxia

Question 22

RosenbergBergstrom syndrome

Answer 22

hearing loss

hyperuricemia

Question 23

Lichtenstein-Knorr syndrome

Answer 23

ataxia and progressive hearing loss

Question 24

Richards-Rundle syndrome

Answer 24

ataxia,
hypogonadism
mental deficiency
hearing loss

Question 25

Jeune-Tommasi syndrome

Answer 25

ataxia
mental retardation
hearing loss
pigmentary changes in the
skin

Question 26

Denny-Brown

Answer 26

dominantly inherited sensory radicular neuropathy

Question 27

Flynn-Aird syndrome

Answer 27

progressive polyneuropathy, kyphoscoliosis, skin atrophy, eye defects
(myopia, cataracts, atypical retinitis pigmentosa), bone
cysts, and osteoporosis

Question 28

Lemieux-Neemeh syndrome

Answer 28

chronic polyneuropathy and nephritis

Question 29

Osuntokun syndrome

Answer 29

congenital pain asymbolia and auditory imperception