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Peds neuro boards, V2 > Metabolic Disorders > Flashcards

Metabolic Disorders Flashcards

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1
Q

Methylmalonic Acidemia

  1. Inheritance
  2. Causes (2 main types)
  3. Result = ____
  4. Symptoms (10)
  5. Treatment (3)
A
  1. Autosomal Recessive
  2. Causes
    1. Defect in enzymes along the propionic acid pathway
      1. methylmalonate CoA mutase
      2. methylmalonate CoA epirimase
      3. enzymes required to synthesize adenosylcobalamin
    2. (acquired) vitamin B12 deficiency
  3. Cannot break down:
    1. Valine
    2. isoleucine
    3. threaonine
    4. methionine
    5. Odd chain fatty acids
  4. Symptoms
    1. feeding problems, hypotonia, lethargy / coma
    2. Severe anion gap metabolic acidosis
    3. ketosis
    4. hyperammonemia
    5. hypoglycemia
    6. electrolyte / fluid abnormalities
    7. hematologic abnormalities
    8. liver / renal dysfunction
    9. Developmental delay / ID
    10. Extrapyramidal movement disorder (due to BG damage)
  5. Treatment
    1. Metronidazole
    2. low protein diet
    3. supplementation with carnitine and AA mixtures not containing the ones they can’t metabolyze
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2
Q

Biotinidase Deficiency

  1. Inheritance
  2. Function of deficient enzyme
  3. Symptoms (8)
  4. Lab evaluation (3)
A
  1. Inheritance: autosomal recessive
  2. Symptoms
    1. Seizures
    2. hypotonia
    3. ataxia
    4. developmental delay
    5. hearing / visual loss
    6. spastic paraparesis
    7. cutaneous abnormalities
    8. alopecia
  3. Lab evaulation
    1. ketaocidosis
    2. hyperammonemia
    3. organic aciduria
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3
Q

Arginosuccinate lyase deficiency

  1. inheritance
  2. symptoms (7)
  3. Lab findings (4)
A
  1. Inheritance: autosomal recessive
  2. Symptoms
    1. Vomiting
    2. lethargy
    3. hypotonia
    4. seizures
    5. coma
    6. respiratory failure
    7. trichorrhexis nodosa: brittle hair with nodules along the shaft
  3. Lab findings
    1. elevated serum citrulline
    2. elevated serum argininosuccinic acid
    3. Decreased serum artginine
    4. elevate urine orototic acid
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4
Q

Galactosemia

  1. Inheritance
  2. Defective Enzyme
  3. Symptoms (8)
  4. Treatment
A
  1. Autosomal Recessive
  2. Galactose-1-phosphate uridyl transferase
  3. Symptoms
    1. Infantile onset
    2. Enlarged liver
    3. cataracts
    4. gram-negative sepsis
    5. Poor weight gain
    6. ovarian failure
    7. developmental delay
    8. speech disorders
  4. Treatment
    1. Diet free of galactose
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5
Q

X-linked Adrenal leukodystrophy

  1. Inheritance
  2. Defective enzyme and result
  3. MRI features
A
  1. X-linked recessive
  2. Mutation in ABCD1 (ALD) gene > peroxisomal protein involved in VLCFA degradation >
  3. inflammatory demyelination (occpital / parietal first, spares arcuate fibers)
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6
Q

Various clinical phenotypes of Adrenal leukodystrophy

  1. Childhood-onset(7)
  2. Adolescent onset (2)
  3. Adult onset (5)
  4. Adrenomyeloneuropathy (6)
  5. Addison’s only (1)
  6. Heterozygous females (3)
A
  1. Childhood onset (2.5-10 years)
    1. Bronze-skinned kid with ADHD-like features, then develops problems with speech and handwriting
    2. Subsequently develops spacial disordientation, seizures, and spastic quadriparesis
  2. Adolescent onset (10-21)
    1. Similar to childhood, but presents later
    2. Endocrine dysfunction
  3. Adult onset adrenoleukodystrophy
    1. rapidly progressive dementia
    2. psychiatric changes (psychosis, schizoaffective)
    3. CNS demyelination
    4. Endocrine dysfunction
    5. possible myelopathy or neuropathy
  4. Adrenomyeloneuropathy (early adulthood)
    1. Rapidly progressive spastic paraparesis
    2. bowel / bladder incontinence
    3. sexual dysfunction
    4. mild dementia
    5. psychiatric changes
    6. Sensorimotor, primarily axonal neuropathy
  5. Addison’s only
    1. Isolated adrenal dysfunction
  6. Heterozygous females (develop by age 60)
    1. Peripheral neuropathy
    2. fecal incontinence
    3. pain in legs
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7
Q

Gaucher’s disease

  1. Epidemiology Note
  2. Inheritance
  3. Defective enzyme
  4. Symptoms
    1. Type 1 (5)
    2. Type 2 (7)
    3. type 3
  5. Treatment
A
  1. Most prevalent genetic disorder among Ashkenazi Jews (account for ⅔ of all cases)
  2. Inheritance = autosomal recessive
  3. Defectvie Enzyme: b-glucocerebrosidase
  4. Symptoms
    1. Type 1 (most common, doesn’t invade CNS)
      1. HSM
      2. Anemia
      3. Thrombocytopenia
      4. Skeletal abnormalities (osteopenia / osteonecrosis)
      5. Pulmonary infiltrates
    2. Type 2 (onset befor age 2, death by 2-4)
      1. HSM
      2. Hydrops fetalis
      3. Cutaneous changes
      4. Psychomotor involvement
      5. Spasticity
      6. Coreoathetosis
      7. Occulomotor abnormalities
    3. Type 3 (onset after 2, slow progression)
      1. HSM
      2. Psychomotor retardation
      3. spasticity
      4. Occulomotor abnormalities
  5. Treatment: enzyme replacement therapy
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8
Q

Krabbe’s Disease

  1. AKA
  2. Inheritance
  3. Defect
  4. Most common age of onset
  5. Presentation
A
  1. AKA Globoid cell leukodystrophy
  2. autosomal recessive
  3. galactosylceramide beta-galactosidase
  4. onset: typically in infancy
  5. Presentation, 10 Ups, and 7 downs
    1. UPS
      1. temperature
      2. babinski
      3. Movements (opisthotonus)
      4. CSF protein
      5. Signal in
        1. Basal Ganglia
        2. Thalamus
        3. Corona radiate
        4. brainstem
        5. cerebellum
      6. Globoid cells
    2. DOWNS
      1. DTRs (other than babinski)
      2. appetite
      3. sight
      4. hearing
      5. Cognition
      6. Myelin in nerves (demyelination)
      7. nerve conduction velocities
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9
Q

Maple Syrup Urine Disease

  1. Gene
  2. Inheritance
  3. Symptoms
  4. Treatment
  5. Subtypes (4)
A
  1. one of four genes part of : defect in branched-chain keto acid dehydrogenase complex
  2. Inheritance: Autosomal Recessive
  3. Dark urine (made by blood and high levels of branched-chain amino acids and ketoacids)
  4. Treatment: protein restricted diet
  5. Subtypes
    1. Intermidiate (not as bad, some enzymes)
    2. Thiamine responsive
    3. Intermittent
      1. response to catabolic loads (infection, large protein load)
      2. urine / cerumen only smells during these episodes.
    4. Dihydrolipoyl dehydrogenase deficient (only in infancy)
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10
Q

Menke’s Disease

  1. Inheritance
  2. Gene mutation and effect
  3. symptoms (6)
  4. Lab findings
A
  1. X-linked recessive
  2. ATP7A > deffective copper transporter > widespread copper deficiency in brain and organs
  3. Symptoms
    1. Brittle hair (pili torti)
    2. hyperelastic skin
    3. thin / absent eyebrows
    4. cerebral vasculopathy and progressive cerebral atropy > subdrual hematomas / hygromas
    5. Developmental delay
    6. Seizures
  4. Lab findings
    1. low serum cerulopasmin and copper
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11
Q

McArdle’s Disease:

  1. AKA (2)
  2. Inheritance
  3. defective enzyme
  4. Symptoms (2)
  5. Diagnosis (3)
A
  1. AKA
    1. myophosphorylase deficiency
    2. Glycogen storage disease type V
  2. Inheritance: autosomal recessive
  3. Decreased phosphorylase activity exclusively in muscles
  4. Symptoms
    1. muscle cramps and myoglobinuria following intense exercise
    2. absent DTR
  5. Diagnosis
    1. lactate does not rise after exercise
    2. Electrographically silent muscle cramps
    3. muscle biopsy = glycogen crystals and absent myophosphorylase
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12
Q
  1. Defective enzyme in:
  2. Von Girke’s
  3. Pompeii’s disease
  4. Cori
  5. McArdles
A
  1. Von Girkes: Glucose-6-Phosphatase (“6 letters in ‘Girke’s’ “ )
  2. Pompeii = Acid Maltase (acid rain at Pompeii)
  3. Cori: Debranching enzyme (branches of a Cor-tree)
  4. Mcardles: Skeletal muscle glycogen phosphorylase
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13
Q

GM1 gangliosidosis

  1. Inheritance
  2. mutation and enzyme
  3. Subtypes (3)
  4. Symptoms (5)
A
  1. Autosomal recessive
  2. GLB1 gene > beta-galactosidase
  3. Onset
    1. Infantile:
      1. 6-18 months
      2. Death by age 7
  4. Type II:
    1. Intermediate form
  5. Type III:
    1. Adult form (mildest)
  6. Symptoms
    1. Hypotonia progressing to spasticity
    2. Seizures
    3. cognitive and visual impairment
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14
Q

Fabry’s disease

  1. Inheritance
  2. Gene
  3. Onset
  4. Symptoms (8)
A
  1. X-linked recessive
  2. Defecient in alpha galactosidase A (AGA) > buildup of globotriaosylceramide (fatty substance)
  3. Childhood / adolescence
  4. Symptoms
    1. Severe limb pain worsened by summer, after exertion, or during periods of stress
    2. Corneal deposits
    3. Rest are “A’s”
      1. Angiokeratosis
      2. Acroparasthesias
      3. Autonomic failure with Anhydrosis
      4. Arrhythmia / Hypertorphic heart failure
      5. Acute renal failure
      6. Abdominal Pain
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15
Q

Metachromatic leukodystrophy

  1. Inheritance
  2. defective enzyme
  3. symptoms (3)
A
  1. Autosomal recessive
  2. arylsulfatase A
  3. Symptoms
    1. behavioral and cognitive disturbances
    2. seizures
    3. periopheral neuropathy
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16
Q
A
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17
Q

Isovaleric Acidemia

  1. Inheritance
  2. Deficiency
  3. Symptoms (3)
  4. Treatment (3)
A
  1. Inheritance = autosomal recessive
  2. Deficienty enzyme: isovaleryl-CoA dehydrogenase
    1. Leads to accumulation of isovaleric acid
  3. Symptoms
    1. lethargy / vomiting within first days of life
    2. Ketoacidosis
    3. urine smells like sweaty feet
  4. Treatment
    1. dietary protein restriciton
    2. levocarnitine
    3. glycine supplementation
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18
Q

Propionic Acidemia

  1. Inheritance
  2. Defective enzyme
  3. Symptoms
A
  1. Autosomal recessive
  2. Defect in propionyl-CoA carboxylase
  3. Symptoms
    1. Lethargy
    2. hypotonia
    3. Seizures
    4. Dehydration
    5. Hepatomegaly
    6. neutropenia
    7. thrombocytopenia / hemorrhages
    8. basal ganglia infarctions
    9. Hyperammonemia
    10. ketoacidosis
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19
Q

Citrulinemia

  1. Inheritance
  2. defficient enzyme
    1. Leads to accumuation of ___
  3. Symptoms (5)
A
  1. Inheritance = autosomal recessive
  2. Defective enzyme = argininosuccinate synthetase
    1. Accumulation of Orotic acid
    2. Accumulation of Ammonia
  3. Symptoms
    1. Vomiting / lethargy / hypotonia
    2. Hepatomegaly
    3. Ataxia
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20
Q

Sandhoff disease

  1. Slightly larger category name
  2. Inheritance
  3. deficient enzyme
  4. Presentation (7)
A
  1. GM2 gangliosidosis disorder
  2. autosomal ressive
  3. deficiency of both hexosaminidase A and B
  4. Presentation (3-6 months)
    1. Increased startle response
    2. neuro/motor regression
    3. spasticity
    4. Optic atrophy/ blindness
    5. cherry red spot in macula
    6. Macrocephaly
    7. Hepatosplenomegaly (how you differentiate from tay-sachs)
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21
Q

2.5 y.o. girl with weakness and muscle weakness a year prior.
normal CK
EMG = neuropathic motor units
exaggerated DTR
atrophy and fasciculations of the tongue

A

Tay-sachs

hexoseaminidase A

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22
Q

Infant arrives with suspected child abuse due to retinal hemorrhages.

Subsequently found to by dystonic / opisthotonic, and macrocephalic

What MRI findings lead you to call off CPS?
What is the disorder?
what do you warn family of in times of Illness?

A

MRI findings of Frototemporal atrophy with prominent sylvian fissures (“bat wing” appearance)

Glutaric acidemia type I

encephalopathy, seizures, vomiting, acidosis, hyperammonemima, and ketotic hypoglycemia

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23
Q

“sweaty feet odor”

Think of what three disorders and how to separate them?

A

Glutaric aciduria type II:

  • Hepatomegaly
  • typically in

Propionic Acidemia

  • elevated propionic acid
  • Mention unable to break down “VOMIT”
    • Valine
    • odd chain fatty acids
    • methionine
    • Isoleucine
    • Threonine
    • …also cholesterol

Isovaleric acidemia

  • Will be hard to differentiate PA from IA without mentioning propionic acid
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24
Q

What two metabolic conditions do you want to rule out if you see an infant with retinal hemorrhages

A

Glutaric aciduria type I

Menkes

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25
(dyslexia trip-up) HARP syndrome versus Hartnup disease
HARP = sometimes due to PANK2 gene * Hypobetalipoproteinemia * Acanthosis * Retinitis pigmentosa * Psllifsl frhrnrtsyion Hartnup disease = Aminoacidopathy due to transport of neutral amino acids across kidney / intestine * H - hypotonia (not always), H - hat needed (due to photosensitvity from _biotin_ deficiency) * A - ataxia, A - aminoaciduria, A - altered mental status * R - Rash (due to photosensitivity) * T - tryptophan = deficient * N - Nicotinamide is needed * U - urine and * P - Poop have elevated neutral amino acids
26
"smelly baby" "sweaty feet" "musty / mousy" "maple syrup"
Sweaty feet * Glutaric aciduria type II * isovalaric acidemia * propionic acidemia Musty / mousy * phenylketonuria Maple syrup * MSUD
27
All mucopolysaccharidoses are due to an inability to do what?
Break down glycosaminoglycans (GAGs) in lysosomes
28
zebra bodies
Mucopolysaccharidoses
29
Abetalipoproteinemia AKA: inheritance Deficiency Symptoms
AKA: Bassen-Kornsweig syndrome inheritance: Autosomal Recessive defect: _MTP_ transporter protein ("more toilet paper" for my stetorrhea) symptoms: **B.A.S.S.E.N.** * B-apolipoprotein is deficient * A - acanthosis (on peripheral smear), Ataxia, Arreflexia, vitamins (A),D,E,K are deficient (due to steatorrhea) * S - teatorrhea * S - ensory loss (proprioception / vibratory), (S)pinocerebellar degeneration * E - ye findings (pigmentary retinopathy) * N - europathy
30
Acute-intermittent porpheria, but also has a rash What do you think of?
Variagate Porphyria
31
Peroxisomal disorders (3) Lysosomal disorders (3)
Peroxisomal disorders * Neonatal Adrenal leukodystrophy * Infantile refsum disease * Zellweger disease Lysosomal disorders * Mucopolysaccharidoses * Neuronal Ceroid Lipofuscinoses * Sphingolipidoses
32
Adrenal-leukodystrophy Diagnostic test results (3)
* Increased Very long chain fatty acids * _lamillar cytoplasmic inclusions_ in brain / adrenal macrophages * demyelination (leukodystrophy), _typically occiput is first_
33
Bronze-skinned child with ADHD and cognitive decline What Labs (3) would you order to confirm this kid doesn't have?
(rule out Adrenalleukodystrophy) MRI: occipitut-first demyelination Labs: Increased VLCFA Histology: Lamellar cytoplasmic inclusions in brain / adrenal macrophages
34
Young man comes in with schizophrenia-like episodes, but also dementia and spasticity. What do you test for?
Serum VLCFA (for adult-cerebral form of Adrenaleukodystrophy)
35
Aromatic L-amino-Decarboxylase Deficiency AKA Onset symptoms (5) Diagnostic test
AKA: AADC deficiency Onset: first fiew months Symptoms: AA(AA)DC * (A)utonomic dysfunction (hypothermia, problems with sweating * (A)taxia, (A)thetosis * (A)xial HypOtonoia but limb HypERtonia * (D)ystonia / torticollis * C(SEE) - Ptosis, oculogyric crisis Diagnosis * CSF neurotransmitters
36
Disorders involving inreased Very long chain aminoa cids (VLCFA)
"Raz the weak, sickly dog" R - efsum disease (infantile only), Rhizomelic chondroplasia punctata) A - Adrenal leukodystrophy Z - Zellweger syndrome
37
Dopamine beta-hydroxylase deficiency Inheritance Symptoms (3) Treatment (1) what disease does this treatment NOT work for and why?
Can't convert Dopamine to Norepenepherine Inheritance: AR Symptoms (remember beta-HYdroxylase) * **_Hy_**pOthermia * **_Hy_**pOglycemia * **_Hy_**pOtension Treatment: * L-DOPS (DL-Threo-dihydroxyphenylserine) * Doesn't work on AADC deficiency because you need AADC to convert it to Norepi
38
Alexander's Disease
George in 'seinfield' is played by Jason Alexander 1. Defect in GFAP 2. Autosomal Dominant 3. Megalencephaly 4. Seizures 5. Spastic Quadriparesis 6. Manifests in Infancy (he looks kinda like a baby) 7. Death in a few years (how long Seinfeld should have lasted) 8. MRI shows Frontal balding (like Jason Alexander)
39
Classic refsum disease Inheritance Defective enzyme Accumulated Protein Symptoms (9) treatment
Inheritance: autosomal recessive enzyme: phytanoyl-CoA hydroxylase \> increased _phytanic acid_ Symptoms, remember "REFSUM" * **_R_**ough skin (ichthiosis), **_R_**etinitis pigmentosa * **_E_**ars (deafness, **_E_**yes (night-blindness) * **_F_**alls and **_F_**ytanic acid elevation * **_S_**mell (anosmia) * **_U_**nsteady gait (ataxia) * **_M_**yelin is lost (demyelinating neuropathy with onion-bulbs) Treat with restriction of phytanic acid
40
Infantile Refsum disease Inheritance Features in common with classic Refsum (4) Features different than classic Refsum (2)
Inheritance - autosomal recessive Features in common with classic Refsum * demyelinating neuropathy (like classic refsum) * Retinitis pigmentosa (like classic refsum) * Deafness (like classic refsum) * Elevated Phytanic acid Features that are different * Steatorrhea * elevated VLCFA
41
Down-syndrome feature which is also associated with Severe metabolic disorder
Brushfield spots (also seen in Zellweger syndrome)
42
Zellweger syndrome inheritance symptoms
Inheritance = autosomal recessive Symptoms * Characteristic appearance * prominent forehead * prominent epicanthal folds * Cataracts * Brushfield spots (seen in down syndrome) * Neuronal migration defects (PMG, heterotopia, pachygyria) * demyelinating neuropathy * HSM * Renal cysts Labs * Increased VLCFA
43
Metabolic disorders which target the U-fibers on MRI
Alexanders Canavans
44
45
Canavan disease
::flailing arms:: "_U_ didn't _see_ the spartan CaNAAvan, carrying Big, wet Sponges" * Defect of _aspartoacylase_, * Macrocephaly (_big_), but with _spongy_ degeneration (mri shows involvement of U-fibers) * Seizures * Spasticity and opisthotonus _(flailing)_ * _Optic_ atrophy * elevated N-acetyl-L-aspartic acid (_NAA_) in: * Serum * Urine * MR-spectroscopy
46
Carbohydrate-Dependent Glycoprotein syndromes 1. When should you consider this disease? 2. defect 3. Symptoms | (type 1)
1. Consider in a patient with seizure or developmental delay with coagulopathy 2. Defect in phosphomannomutase (sounds like a spell in harry potter that would cause this) 3. Reverse the spell with ATKINS 1. **_A_**taxia, **_A_**bnormal fat distribution (lipodystrophy above buttocks and suprapubic region) 2. **_T_**ransferrin = deficient carbohydrate, **_T_**one is low 3. **_K_**oagulopathy 4. **_I_**nverted 5. **_N_**ipples (and **_N_**ystagmus) 6. **_S_**eizures, **_S_**troke-like episodes, **_S_**trabismus 4. "if you have fat above the bum, think CDG-1"
47
Cerebral folate deficiency Symptoms Treatment
Remeber (3, 4, 5, 6, 7) * "at _3_ years she lost her vision" * "but symptoms started at _4_ months with" * (5 symptoms) * Seizures * Microcephaly * Spastic paraplegia * Cerebellar ataxia * Dyskinesia * "They found elevated _5_-methyltetrohydrofolate in her CSF" * By age _6_, she couldn't hear us" * Treatment = folinic (7 letters) acid (leukovorin)
48
Glut-1 Onset Symptoms treatment
AKA DeVivo disease Onset at four months ("quatro") Symptoms * Low CSF glucose, but normal lactate * abnormal eye movements resembling **_opso_**clonus * **_Micro_**cephaly * _Apnea_ Treatment: Ketogenic diet "De Vivo, low-gluco, opso, micro, treat with keto, pronto (because of apnea)!"
49
Galactosemia Inheritance Defective enzyme Onset symptoms (6)
1. AR 2. Multiple enzymes, but MC (classic) is Galactose-1-phosphate uridyl transferase 3. onset: hypotonic neonate 4. other symptoms 1. hepatomegaly 2. jaundice 3. Diarrhea 4. Vomitng 5. Cataracts 6. E-coli sepsis
50
GLUT-1
AKA: "devino disease" "Devino at quatro. Low gluco, opso, micro, treat with Keto, pronto!" * Presents at 4 months ("quatro") * Decreased CSF glucose and serum / csf glucose ratio (low gluco) * Microcephaly (Micro) * abnormal eye movemements resembling opsoclonus * Apnea (why its "pronto") * Treat with ketogenic diet
51
lowes syndrome AKA Gene / chromosome features by category: A (5) B (7) C (2) D (1)
1. AKA occulocerebrorenal cyndrome 2. Inheritance: X-linked recessive 3. Mutation in OCRL1 (xq26) 4. Symptoms 1. Occulo 1. bilataeral caeracts 2. glaucoma 3. +/- buphthalmos (bulging eyes) 4. Corneal cheloids 5. blindness 2. Cerebro 1. seizures 2. developmental regression 3. myotonia 4. neuropathy with decreased DTR 5. obsessive-compulsive-like behavior 6. MRI 1. periventricular cysts 2. Increased signal at periventricular region 3. Renal 1. RTA 2. Renal fanconi syndrome 4. Bone 1. can also develop ricketts
52
Palazeus Merzbacher disease (classic form) Inheritance Mutation / chromosome Symptoms
1. X-linked recessive 2. Proteolipid protein (PLP1) on Xq21-22 3. Symptoms: "_'Pleaz_ keep your _eyes_ open for _roving_ _tigers_, got it?' (everyone _nods)_" 1. Optic atrophy 2. Roving eye movements 3. "tigroid" appearance on MRI (hypomyelinating appearnce on MRI) 4. tremor / head nodding
53
Palazeus-Merzbacher (Connatal form) Inheritance How it is different from classic form
Most are AR, but some still x-linked Presents Earlier and progresses faster (die within first decade)
54
Tauri's Disease Inheritance Symptoms (3)
Autosomal recessive 1. Symptoms similar to McArdle's disease (exercise-induced cramps and myoglobinuria) EXCEPT: 1. NO second wind phenomenonon 2. Typically more severe than McArdles (not always)
55
Forearm ischemia test: Normal results and what disease does this NOT exclude? Low Lactate Low Ammonia
1. Normal results 1. Rise in lactate 2. Rise in Ammonia 3. Carnitine Palmitoyltransferase deficiency 2. Low lactate 1. McArdles 2. Tauri's 3. Low Ammonia 1. Myoadenylate deaminase defiency
56
8 months old with lethargy, vomiting, and cardiopulmonary arrest and hypoketotic hypoglycemia: What disorder do you suspect? what kind of disorder is it? Biggest concern Treatment
Medium-chain Acyl-CoA dehydrogenase Deficiency (MCAD) autosomal recessive most commmon disorder of _Fatty acid oxidation_ Hypoketotic hypoglycemia (this can be fatal!) Treatment Low fat diet Carnitine
57
Newborn with hyOthermia and hypERbilirubinemia returns at 3 months with concerns of NAT, found to have exaggerated startle response and seizures. What exam finding would stop you from calling CPS? What is the mechanism? inheritance other features
Menke's Kinky Hair disease Disorder of Copper transport Features: neonate presenting with hypothermia and hyperbili, then at 2-3 months develops seizures, hypotonia, poor feeding, and _stimulation induced myoclonus._ Can see Stroke / subdural hemorrhages, Retinal hemorrhages, and rib fractures (can mimic child abuse) _Cherubic_ face with _kinky_ hair "wormean bones" | (X-linked recessive)
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MELAS full name Features
Mitochondrial encephalopathy with lactic acidosis and stroke-like-episodes Symptoms: * "_Me Lass Lucy_ _GIVES_ it **_O_**ut for $_10_ at **_Car_**nivals. She'll run you _Ragged_" * Lucy = defect of Leucine tRNA gene * **_G_**TC * **_I_**ntolerance for exercise * **_V_**omiting * **_E_**levated Lactate * **_S_**hort stature and **_S_**ensorineuronal hearing loss * **_O_**ccipital distribution for stroke-like episodes (don't follow vascular distribution) * Treatment * Coenzyme Q**_10_** * **_Carn_**itine * _Ragged-_Red Fibers
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Baby presents with alternating episodes of diarrhea and pseudoobstruction. also with weakness, ptosis, and ophtamolplegia What other test could you order to confirm disease and what would it's finding be?
Mitochondrial Neurogastrointestinal encephalomyopathy EMG (sensorineuronal neuropathy)
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Multiple Sulfatase deficiency Inheritance what is the defect? What are the symptoms?
1. Sulfatase Modifying Factor -1 gene (SUMF1) 2. Autosomal recessive 3. Symptoms: "hunter in the streets, Metachromatic leukodystrophy **_I_**n the sheets" 1. Skeletal symptoms similar to Hunters but with _Ichthyiosis_ 2. Neuronal symptoms similar to metachromatic leukodystrophy
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MERRF Full name Features
Myoclonic epilepsy with ragged red fibers Features: "MERRF **_lys_**tened to her dad in the movie 'Interstellar' when she was _small_, and saved a _LOAD_ of _Nervous_ **_M_**en * Mutation in _Lysine_ tRNA * _short_ stature * **_L_**ipomas * **_O_**ptic * **_A_**trophy * **_D_**eafness * _Neuropathy_ * **_M_**yopathy
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Neimann Pick disease, type C Inheritance disorder of \_\_\_\_ Mutation (2) and chromosome (2) Neonatal presntation childhood presentation (and age)
1. Autosomal recessive 2. disorder of **_T_**ransport of **_C_**holesterol (**_T_**ype-_C_) 3. muations 1. NPC1 (18q) 2. NPC2 (14q) 4. Neonatal presentation 1. hepatomegaly 2. jaundice 3. hypotonia 5. Later (3-8 years) = 6 C's, 4 D's 1. **_C_**lumsiness progressing to Ataxia 2. **_C_**ataplexy 3. **_C_**horeoathetosis 4. "sea"-blue histiocytes and foamy cells 5. "see" vertical supranuclear ophthalmoplegia 6. "sei"-zures 7. **_D_**ystonia 8. **_D_**ysphagia 9. **_D_**ysarthria 10. **_D_**ementia
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Mutation **_i_**n Pyridoxine dependency, and how it leads to seizures
Autosmal recessive mutation in _ALDH7A1_ leads to deficiency in _antiquin_ Leads to an accumulation of P6C which causes _Pyridoxyl-5-phosphate_ to precipitate out This leads to inability to convert _Glutamate_ (excitatory) to _GABA_ (inhibitory)
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Sialidosis Inheritance disease type defective enzyme symptoms (main form) other presentation common feature between the two
1. Autosomal recessive 2. Lysosomal storage disorder 3. Alpha-neurominidase (sialidase) 4. main presentation: progressive myoclonic epilepsy 5. Other presentation is similar to _Hurler's_ but with _HSM_ 6. Common feature: _cherry red spot on macula_
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Tangier disease Inheritance Mutation symptoms (5) lab findings (3)
Autosmal recessive mutation in _ATP-binding casset protein 1 gene (ABCA-1_) (_9q_) Symptoms: 1. Large, orange tonsils 2. lymphadenopathy 3. splenomegaly 4. Distal upper extremity Sensory neuropathy leading to Atrophy of hand muscles Lab findings 1. LOW cholesterol 2. LOW LDL 3. VERY LOW HDL
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Wilson's disease Inheritance and mutation result of mutation Presentation (if \< 10 years) presentation (if \>10 years) Diagnostic tests (4) Treatment
1. Autosomal recessive mutation in ATP7B (13q) (adenosine triphosphatase) 2. Leads to inability to transport copper from hepatocytes into Bile 3. Symptoms (\<10) 1. Liver disease 4. Symptoms (\>10) 1. Wing-beating tremor 2. Kayser-Fleischer ring 3. Sunflower cataracts 4. Risus sardonicus (also seen in Tetanus) 5. Labs 1. LOW serum ceruloplasmin 2. LOW serum Copper 3. HIGH 24 hour urinary copper excretion 6. MRI = "giant panda face) 1. Decreased T2 signal in _superior calliculi_ 2. increased T2 signal in _meidla substantia nigra_ and _tegmentum_ 7. Treatment = "TRI-DAZ" chelation 1. **_TRI_**ethylene Tetramine Dihydrochloride 2. D. Penicillimine 3. Ammonium Tetrahiomolybate 4. Zinc
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Differences between Menke's kinky hair disease and Wilson's disease
``` Menke's = _alpha_ subunit of ATP-ase \> problem with **_A_**bsorption Wilsons = _Beta_ subunit of ATP-ase \> problem with **_B_**ile ```
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Wolman disease Inheritance defective Enzyme Onset symptoms
1. Autosmal recessive 2. Disorder of _acid-lipase_ \>\> _xanthomatous_ changes to many organs 3. Onset in Infancy, memnonic = "_WOAH_ **_M_**an, **_J_**ust **_Cal_**m **_D_**own" 1. **_W_**eight loss 2. hyp**_O_**tonia 3. **_A_**cid-Lipase and **_A_**drenal Insufficiency 4. **_H_**epatosplenomegaly 5. **_M_**alabsorption 6. **_J_**aundice 7. **_Cal_**cified adrenal glands 8. **_D_**iarrhea and **_D_**evelopmental **_D_**elay 9.
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Photosensitivity in HARTNUP disease is due to what?
Niacin deficiency
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potential Trap: ABCD1 mutation -Versus- ABCA1 mutation
ABCD1 mutation - adrenal leukodystrophy (xlr) ABCA1 mutation - Tangier Disease (ar)
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Diseases with Cherry Red Macula (mnemonic)
_Farber_ **_S_**alivates **_G_**etting cherry-_picked_, _half-off_ sales at _S__acks_ fifth avenue and _Neiman_ marcus Farber's disease Sialidosis GM1 gangliosidoses Neiman-Pick sandhoff (half-off) Tay-Sachs Neiman-Pick type A
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How often should asymptomatic patients with x-linked adrenal leukodystrophy get imaged?
Yearly until age 3 then every 6 momths between age 3-12 years then back to yearly
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What is this Trichrome Gomori Stain
Ragged red fibers
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Kearns-Sayres Syndrome Inheritance onset symptoms (2 big + 3 more)
1. Mitochondrial 2. Onset typically before 20 3. Symptoms 1. Chronic progressive external opthalmoplegia 2. Pigmentary retinopathy 3. Cerebellar ataxia 4. proximal muscle weakness 5. deafness
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Leigh's disease AKA Arguably same disorder as \_\_\_\_\_ Inheritance Features Treatment (2)
AKA: acute necrotiing encephalomyelopathy Arguably same disorder as: Pyruvate dehydrogenase deficiency Inheritance: Mitochondrial disorder, but multiple causes (mitochondrial, autosom. rec., X-linked) Features: Princess LEIGH-A * **_L_**actic acidosis, **_L_**ack of milestones (developmental delay) * **_E_**pilepsy / **_E_**xtraocular movement abnormalities * **_I_**ncreased T2 signal in putamen * **_G_**ag/Vomit * **_H_**yperventilation / **_H_**ypotonia * **_A_**taxia_,_ **_A_**pnea Treatment: * ​Ketogenic diet * Supplement Leucine and Lycine
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NARP synrome and related disease
* *_N_**eurogenic muscle weakness * *_A_**taxia * *_R_**etinitis **_P_**igmentosa Mitochondria mutation showing heteroplasmy * 70-90% NARP * 100% _leigh syndrome_
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Homocystinuria inheritance / genes symptoms
Mutliple genes, but all AR (MC = cystathionine B-synthase) Symptoms * **Marfinoid features** * **Ectopia Lentis** * **Codfish vertebrae** * **Levido reticularis** * MR * Seizures * malar flush * thromboembolism * myopia Labs * Increased homocysteine in urine * increased homocystine and methionine in blood
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Neiman Pick type A aka inheritance Features prognosis
1. AKA infantile neuropathic variant 2. persistent neonatal jaundice 3. Pulmonary infiltrates 4. lymphadenopathy 5. _cherry-red spot_ 6. foamy macrophages 7. Rapid neurologc decline
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Neiman Pick type B Symptoms (5)
Hypersplenism leading to decreased platelets HSM ILD HLD often survive into adulthood
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Pompe's disease Inheritance Defective enzyme Symptoms * Infantile * Juvenile * adult Test
Pompe's disease * Inheritance (autosomal recessive) defect in alpha 1,4-glucosidase or acid maltase Symptoms (Infantile) - onset 1-2 months * Weakness * "plumpe's disease" * Macroglossia * hepatomegaly * cardiomegaly * Death from _respiratory_ collapse Symptoms (juvenile) * Diaphragmatic / other _respiratory_ muscle weakness * Lower limb weakness Symptoms (adult) * generalized weakness * especially muscles of _respiration_ test = PAS acid schiff (+)
81
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Von Girke's disease inheritance defective enzyme symptoms (3)
1. Autosomal recessive 2. Deficient glucose-6-phosphatase \>\> no gluconeogenesis and no free glucose from glycogenolysis 3. Symptoms 1. Severe fasting hypoglycemia 2. high liver glycogen 3. Developmentla delay from repeated hypoglycemia
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Cori's Disease Inheritance defective enzyme Symptoms
1. autosomal recessive 2. debranching enzyme (lots of unbranched glycogen molecules) 3. Symptoms 1. similar to Von-Girke's but milder in presentation
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Pyruvate dehydrogenase deficiency 1. Inheritance (3) 2. Difficient enzyme 3. Symptoms 4. Treatment
1. Autosomal recessive, x-linked, and Mitochondiral 2. ...look at the name 3. Symptoms 1. Lactic acidosis with normal pyruvate / lactate ratio 2. neurodevelopmental problems 3. early death 4. Treatment 1. Ketogenic diet 2. supplementation of Lysine and leucine
85
Phenylketonuria 1. Inheritance 2. deficient enzyme 3. Symptoms (2) 4. Treatement (2)
1. Autosomal recessive 2. reduced activity of phenylalanine hydroxylase 1. \> tyrosine becomes essential 2. \> phenylalanine accumulates and is converted into phenylketone, excreted in urine, hence the name 3. Symptoms 1. Developmental delay 2. seizures 4. Treatment 1. Low pHe diet 2. protein supplementation
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Hunters / Hurlers Inheritance Enzymes Symptoms (4 each)
Hunters 1. Inheritance = x-inked recessive 2. Deficient enzyme: iduronate sulfatase 3. Symptoms 1. (mild versus hurlers) 2. Gargolysm 3. HSM 4. Developmental delay Hurlers 1. Inheritance: autosomal recessive 2. deficient enzyme: B-L-iduronidase 3. Symptoms 1. Gargolysm 2. HSM 3. Developmental delay 4. Corneal Clouding
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Lesh-Nyhan Disease Inheritance AKA Symptoms (5)
1. X-linked recessive 2. hypoxanthine guanine phosphoribsyltransferase defiicnecy (Xq26) 1. Normal at birth 2. Hypertonia (often mis-diagnosed as CP) 3. delayed milestones 4. aggressive behavior 5. self-mutilation (biting of fingers, lips, and cheeks)
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How would you treat this patient?
Wilson's disease = TRI-DAZ chelation * Triethylene tetramine Dihydrochloride * D. Penicillamine * Ammonium tetrathiomolybdate * zinc * Chelation
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Gold standard for diagnosis Wilson's disease
Hepatic copper concentration (\>250 mcg/gram
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Patient presents with loss of central vision, optic nerve atrophy first affecting one eye, then spreading to the other. He is subsequently found to have an inherited condition. What findings would you see on fundoscopy? How would you treat it?
Fundoscopy: * **vascular tortuosity of retinal vessels** * **hyperemia of optic disc** * **Peripapillary telangiectasias** Treatment: * idebenone
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(Working list) Baby presenting with "opisthotonus" what items are on differential?
Maple syrup urine disease Glutaric acidura type I Canavan's disease
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neonatal seizure patient with lense dislocation what is the disorder? what is the defective enzyme? what is causing the lense dislocation?
1. what is the disorder? Sulfatite oxidase deficiency 2. what is the defective enzyme? molybdenum cofactor deficiency 3. what is causing the lense dislocation? caused by bildup of s-sulfacysteine
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Mucopolysaccharidoses: 1. Inheritance 2. Diseases with Mental Retardation (4) 3. disease with normal intelligence (4)
1. All are automal recessive except Hunters (x-linked) 2. Diseases with MR 1. Hurler 2. Hunter 3. Sanfilippo 4. Sly 3. Diseases with normal intelligence 1. Scheie 2. Hurler-Scheie 3. Morquio 4. Maroteaux-Lamy
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Mucopolysaccharidoses: 1. Defective enzymes (4 most common) 2. Common histologic buzzword 3. Neurosurgical complication they are at risk for and why
1. Defective enzymes (most common) 1. alpha-L-iduronidase (hurler, sheie, and hurler-scheie) 2. iduronate slfatase (hunter) 3. Galactose-6-sulfatase (morquio 4. Hyaluronidase (sly) 2. Common histologic buzzword 1. Zebra bodies (intralysosomal inclusion bodies) 3. At risk for obstructive hydrocephalus or cervical cord compression due to skeletal deformities
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AADC deficiency What does the name stand for? What is the core issue? Age of onset? Symptoms + how to confirm diagnosis
Aromatic-L-Amino Acid Decarboxylase deficiency Core issue = Can't produe Dopamine and Serotonin Mnemonic for Symptoms and diagnosis= AAAADDCC **_A_**taxia **_A_**thetosis **_A_**xial hypOtonia (but limb hypERtonia) **_A_**utonomic **_D_**ysfunction **_D_**ystonia/torticollis _C_(see) ptosis and occulogyric crisis increased **_C_**SF neurotransmitters
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(working list) Diseases presenting with ichthiosis (3)
Sjogren Larson syndrome multiple sulfatase deficiency refsum disorder
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11 month old with opisthotonis has this on histology What is this? What is the diagnosis what is the defficient enzyme
Globoid cell (Krabbe) Defect of galactosylceramidase

Peds neuro boards, V2 (29 decks)

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