syndromes, reflexes, signs, quick recall Flashcards
(99 cards)
1
Q
metachromatic leukodystrophy
A
arylsulfatase A
2
Q
Fabry
A
alpha galactosidase
3
Q
Farber
A
ceramidase
4
Q
Gaucher
A
beta glucosidase
5
Q
Krabbe
A
galactosyl ceramide beta galactosidase
6
Q
Nieman Pick
A
sphingomyelinase
7
Q
Sandhoff
A
hexosaminidase A/B (HSM)
8
Q
Tay Sachs
A
hexosaminidase A
9
Q
Pompe
A
acid maltase def
10
Q
rosenthal fibers
A
Alexander disease
11
Q
NAA high
A
Canavan
12
Q
CPT 2 (canitine palmitoyl 2 def)
A
recurrent myoglobinuria w/ exercise
13
Q
systemic issue with galactosemia
A
ecoli sepsis
14
Q
glutaric acidemia
A
movement disorder in baby, bat shaped MRI
15
Q
Lesch Nyan
A
self mutilation, HGPRT, purine metab
16
Q
Hurler
A
alpha L iduroniase
17
Q
Hunter
A
iduronate sulfatase
18
Q
PLP gene, hypomyelination leukencephalopathy
A
Pelizaeus Merzbacher
19
Q
ataxia, neuropathy, steatorrhea, retinitis pigmentosa, acanthocytosis
A
abetalipoproteinemia, Bassen-Kornzweig syndrome
(a beta: I better head to the bathroom… or look for a Basin)
BASSEN: B apolipoprotein, Acanthocytosis, Ataxia, Areflexia, vitAdef, Steatorrhea, Sensory loss, Spinocerebellar degen, Eye findings, Neuropathy
20
Q
Infant with : macroglossia, cardiomegaly, hepatomegaly, PAS positive membrane bound vacuoles
A
Pompe’s disease
21
Q
adult with fatigue, weakness, respiratory failure, increased CK, myotonia in paraspinal muscles, intracranial aneurysms
Dx
Muscle biopsy finding
A
Adult pompe/acid maltase deficiency
vacuolar myopathy / lysosome stain PAS
22
Q
dystonia, athetosis, tongue thrusting, torticollis, oculogyric crisis, ptosis, autonomic dysfunction w/ apnea, hypothermia, sweating
A
AADC deficiency:
Aromatic L-amino Acid decarboxylase Deficiency
23
Q
sudanophilic material in macrophages
A
adrenoleukodystrophy
24
Q
genetics of neonatal adrenoleukodystrophy?
A
AR as opposed to X-linked like older forms
25
progression of demyelination in adrenoleukodystrophy
occipital to frontal
26
deficiency of aspartoacylase
increased NAA on MRS
macrocephaly but loss of white matter
canavan
Think Spartan/ living in Caravan and caNAAvan
27
seizures, developmental delay, coagulopathy, GI sx, inverted nipples, abnormal fat distribution
CDG 1
28
most common etiology of recurrent myoglobinuria
chr 1p32, CPT II deficiency
See Pee Tea with 2 much exercise (CPT 2)
29
4 month old with irritability and sleep disturbance followed by neurologic / vision sx and hearing loss and
SLOWED head growth
Treatment
cerebral folate deficiency
Tx w/ folinic acid (leucovorin)
30
periumbilical rash, corneal deposits, GI/renal issues, heart issues
Fabry
31
lipogranulomatosis, cherry red spots, subcutaneous nodules, hoarseness, joint issues
Farbers, lipogranulomatosis from ceramidase deficiency
32
ceramidase deficiency
Farbers
33
cataracts, poor feeding, HSM, E. coli sepsis
galactosemia
34
PAS + histiocytes containing lipid
Gaucher cells
35
acquired microcephaly in first few months of life, spasticity, ataxia
Dz and tx
Glucose Transporter Type 1 deficiency, treat with ketogenic diet
36
frontotemporal atrophy w/ prominent sylvian fissures and bat wing MRI appearance. Retinal hemorrhages and subdural effusions
Glutaric acidemia type 1
37
What does Glutaric acidemia type II cause (2 syndromes)
neonatal hypotonia, sweaty feet odor
OR
Reye-type syndrome later in life
38
hypobetalipoproteinemia, acanthocytosis, retinitis pigmentosa, pallidal degeneration (HARP)
What gene?
PANK2 gene
39
Intermittent ataxia and nystagmus, photosensitive rash, amino acids in urine
low tryptophan
HARTNUP
40
progressive external ophthalmoplegia and pigmentary retinopathy, heart block, myopathy, endocrine issues
Kearns-Sayre Syndrome
41
galactocerebroside
Krabbe (Globoid cell leukodystrophy)
42
optic atrophy, blindness, deafness, no DTRs but upgoing toes, high CSF protein, Globoid cells PAS+ in macrophages
Krabbe
43
putamen abnormalities on MRI and high lactate
Leigh syndrome
44
lab finding in lesch nyhan syndrome
hyperuricemia and elevated urine uric acid
45
big eyes, cataracts, glaucoma, blindness, OCD sx, kidney issues
Lowe Syndrome: OWL syndrome w/ big eyes OCRL1 gene
| Oculocerebrorenal syndrome
46
branched chain ketoacids are what, and elevated in what disease:
VIAL: Valine, Isoleucine, alloisoleucine, Leucine
| MSUD
47
most common disorder of fatty acid oxidation
MCAD: medium chain acyl-coa dehydrogenase deficiency
48
hypoketotic hypoglycemia
| Dz and tx
MCAD: medium chain acyl-coA dehydrogenase def
| tx w/ carnitine and low fat diet
49
very little kinky hair: what is big CNS risk?
Menkes: vasculopathy causing strokes or subdural hematomas
50
arylsulfatase A deficiency
metachromatic leukodystrophy
51
PNS and CNS involved - mixed UMN/LMN signs
symmetric demyelination sparing subcortical U fibers
falling and gait problems first year of life and regression
Late-infantile metachromatic leukodystrophy
52
organic acidemia with high ammonia, ketosis, acidosis and spastic quadriparesis, ID, basal ganglia injury w/ movement disorder
methylmalonic acidemia
53
disease with MRI showing leukodystrophy but only GI sx and PNS/polyneuropathy/weakness sx and not CNS dysfunction
MNGIE: mitochondrial neurogastrointestinal encephalomyopathy
54
skeletal deformity that may be seen in the mucopolysaccharidoses
cervical cord compression/base of brain issues w/ hydrocephalus
55
MPS with corneal clouding?
Hurler's AR
56
how do you treat holocarboxylase synthase deficiency?
| What does this d/o look like?
biotin
looks like biotinidase def... which is also treated with the same
(both are part of the multiple carboxylase deficiency diseases)
57
deafness, optic atrophy, lipomas, short stature, myopathy, neuropathy, frequent jerks
Dz and mutation
MERRF: tRNA lysine
| Merve has lyse/lice
58
palmitoyl protein thioesterase (PPT1): :what disease
infantile neuonal ceroid lipofuscinoses
59
foamy histiocytes in liver and bone marrow
Niemann-Pick disease type A
60
gelastic cataplexy, choreoathetosis, seizures, vertical supranuclear gaze palsy w/ problem with down gaze
What dz and caused by what
Niemann-Pick Disease type C due to abnl cholesterol transport
61
sea blue histiocytes
Neimann pick type C
62
hiccups and burst suppression
nonketotic hyperglycinemia
63
hypomyelinating leukoencephalopathy and head tremor or nodding, roving eye movements/pendular nystagmus
Classic Pelizaeus-Merzbacher
64
exercise intolerance with cramps, fatigue and myoglobinuria
| No second wind
Tarui disease, Phosphofructokinase deficiency
65
night blindness and accumulation of phytanic acid
Refsum disease
66
retinitis pigmentosa, ataxia, anosmia, deafness, chronic hypertrophic demyelinating sensorimotor neuropathy w/ onion bulbs, ichthyosis, and diabetes, skeletal issues, cardiac issues, very high CSF protein in child
childhood Refsum
67
deficiency of heosaminidase A and B with mild hepatosplenomegaly and coarse granulations in histiocytes in bone marrow
Sandhoff disease (sandbag under shirt making belly bigger) and sandy course granulations in bone marrow
68
alpha neuraminidase deficiency with progressive myoclonic epilepsy and cherry red spot
sialidosis type 1
69
Ichthyosis (dry skin), ID, spastic quadriplegia
Sjogren-Larsson due to decreased fatty aldehyde dehydrogenase
70
seizures, sassy behavior, ataxia, developmental delay, and urine organic acids with gamma hydroxybutyric aciduria
SSADH: succinic semialdehyde dehydrogenase deficiency
71
deficiency of alpha lipoprotein
| pt with large orange tonsils, lymphadenopathy, splenomegaly, neuropathy, hand atrophy
Tangier disease
| hold a tangerine in your hand where atrophy occurs
72
hypersensitive startle, hyperacusis, progressive weakness and hyperreflexia, seizures, blindness, megalancephaly
Tay sachs
73
ballooned neurons with foamy cytoplasm
tay sachs
74
tay sachs vs sandhoff?
Tay sachs: no organomegaly
Sandhoff: hexosaminidase A and B def, Taysachs only A
(Think B causes Big liver and Big sandy Beach)
75
face of giant panda on MRI
Wilsons
76
two copper transport diseases and their differences in labs and treatment
Menkes: alpha subunit, low serum copper and ceruloplasmin but LOW liver copper too, so treat with Copper
Wilson's: Beta subunit, low serum coper and ceruloplasmin but high liver copper, so chelate
77
jaundice, vomiting, diarrhea, poor wt gain, adrenal calcification and insufficiency and hepatosplenomegaly in infants/young children
Wolman disease
78
cerebro-hepato-renal syndrome
Zellweger
79
another disease with brushfield spots and epicanthal folds, not DS
Zellweger syndrome
80
the only x-linked sphingolipidosis
Fabry
81
Brudzinski sign
meningeal sign with flexion of pts neck, legs flex at hips
82
ciliospinal reflex
pinch neck and assess sympathetic pupil dilation
83
collier sign
b/l upper eyelid retraction w/ dorsal midbrain lesion
| "Caller" sign: paranoid from persistent caller eyes will be bugging out/widened due to fear
84
kernig sign
when examiner flexes leg at hips and extends knee, there is back/neck pain
85
Marcus gunn pupil
relative afferent pupillary defect: no constriction w/ light, but accomodates and consensually constricts
86
myerson sign
can't stop blinking when tapped over bridge of nose/glabella
87
phalen's sign
parestheias in median nerve with wrist flexion
88
Riddoch phenomenon
can only see wiggling fingers, not still fingers
| examiner looks Ridiculous wiggling fingers
89
tinel's sign
tapping produces paresthesias in median nerve
90
uhthoff's phenom
decreased vision with increased temp
| (Under Heat The Optic n Fatigues Fast
163
agenesis of corpus callosum
chorioretinal lacunae
infantile spasms
Aicardi
164
agenesis of cerebellar vermis
cystic dilation of 4th ventricle
enlarged posterior fossa w/ elevation of tentorium
Dandy walker
165
interstitial keratitis
notching of central incisors
nerve deafness
Hutchinson triad of congenital syphilis
166
trismus
strabismus
opisthotonus
Gaucher's disease type 2
167
involuntary muscle twitching/myokymia/fascics
muscle cramps stiffness
myotonia
Isaac's syndrome, neuromyotonia
168
vertigo, tinnitus, hearing loss
menieres
169
ataxia, ophthalmoparesis, areflexia
miller-fisher variant of GBS
170
bug and antibodies assoc with miller fisher GBS
campylobacter jejuni, anti-GQ1b abs
171
branch retinal artery occlusions
encephalopathy
hearing loss
Susac's syndrome: microangiopathy of brain, retina, cochlea
