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Flashcards in Pediatrics Deck (19)
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1
Q

Angelman Syndrome

A
Maternal imprinting
Clinical: happy, excitable demaner with frequent laughing
-developmental delay
-microcephaly
-seizures (usually myoclonic)
-hyperactive (hand flapping, waving)
-ASD (autism)
2
Q

Pradi Willy Syndrome

A
Paternal imprinting
Clinical: hypotonia, hyperphagia and obesity (+++appetitie)
-compulsive behaviour
-hypogonadism
-short-stature 
-seizures (focal more common)
3
Q

Rett syndrome

A

X-linked (fatal in males)–> MECP2 mutation

  • normal development upto 18 months, then rapid regression
  • stereotypic movements–> hand wringing, repetitive blows to face
  • inconsolable crying
  • mircocephaly
  • language regression
  • gait ataxia

MAIN CRITERIA:

  1. ) loss of acquired hand skill
  2. ) loss of acquired SPOKEN language
  3. ) Gait abnormalities: impaired of absence ability
  4. ) Stererotypic hand movements; hand wringing, clapping/tapping, mouthing and washing/rubbing automatisms,

EXCLUSION CRITERIA:

  1. ) grossly abnormal psychomotor development in first 6 months
  2. ) secondary cause (i.e. structural, metabolic, etc)
4
Q

Fragile X

A

X-linked; females may have milder symptoms
-CGG repeats >200 in fragile X gene; decreased levels of fragile X mental retardation protein
-clinical: post-puberty most obvious
-long face with prominent brow and jaw
-large ears, macroorchidism, hyperextensible skin and joints
-Neurological: intellectual disability, epilepsy, autism
**if presenting in adult life (>50), following clinical features: intention tremor, ataxia, parkinsonism, cognitive decline (dementia, decline in executive dysfunction), neuropathy, psychiatric features (anxiety, depression)
Adult females may have primary ovarian insufficiency (early menopause)
Imaging: T2/FLAIR middle cerebellar peduncles

-check for: SCOLIOSIS, GERD, sinusitis, otitis media, early childhood–> focus on dislocations, hypotonia, hernias

5
Q

Ataxia Telangiectasia

A
AR
Normal early development until gait and truncal ataxia become apparent 
Clinical:
1.) progressive ataxia
-polyneuropathy
2.) choreoathetosis
3.) oculcutaneous telangiectatsia
4.) infections
5.) malignancies (leukemia/lymphoma)
6.) increased sensitivity to ionized radiation 
7.) premature aging
  1. ) MRI: cerebellar atrophy
  2. ) decreased serum Ig levels
  3. ) elevated alpha feto-protein
6
Q

Von Hippel-Lindau disease

A
AD
-hemangioblastoma of cerebellum, kidneys, retina, spinal cord
-median age 20-25 y 
Clinical features:
1.) angiomatosis
2.) hemangioblastomas (cerebellum and brainstem)
3.) pheochromocytoma
4.) renal cell carcinoma 
5.) pancreatic cysts
6.) cafe-au lait macules

Management: surveillance!!

HARP pneumonic: hemangioblastoma, angiomatosis, renal cell carcinoma, pheochromocytoma

7
Q

Sturge-Weber Syndrome

A

Somatic Mosaic mutation
Clinical:
1.) facial portwine cutaneous in distribution of trigeminal nerve (V1 and V2)
2.) ipsilateral glaucoma
3.) seizures
4.) ipsilateral leptomeningeal vascular lesions–> leads to cortical calcification

Management: symptomatic; hemispherectomy to control seizures when medical therapy fails; monitor for galucoma!!

8
Q

Aicardi Syndrome

A

X-linked dominant disorder; lethal in affected male

  • IS
  • agenesis of the corpus callosum
  • chorioretinopathy
  • vertrebral anolomalies
  • severe mental retardation
  • EEG: asymmetric hypsarrthymia
9
Q

Chiari I Malformation

A

-downward herniation of cerebellar tonsils through foramen magnum >5mm

10
Q

Friedreich Ataxia

A

AR

  • trineucleotide expansion >66 GAA
    1. ) face: hearing loss, optic atrophy, nystagmus, dysarthria
    2. ) heart: cardiomyopathy, dysrhythmia
    3. ) endo: diabetes
    4. ) MSK: scoliosis, pes cavus (high arch), talipes equinovarus
    5. ) limb and head tremor

***ataxia, pyramidal signs, sensorimotor neuropathy, optic atrophy

Management:

  1. ) atrophy of spinal cord and medulla
  2. ) NCS: axonal neuropathy
11
Q

Neurulation

A

3rd-4th week of gestation
Issues:

  1. )failure of rostral fusion=anencephaly, encephelocele
  2. )failure of caudal fusion=myelomeningocele (issues with ambulation, hydrocephalus, motor/sensory dysfunction depending on the level, spinchter function)

Myelomeningocele+displacement of cerebellar tonsils=Arnold-chiari malformation

12
Q

Prosencephalic development

A

Begins 5th-6th week of gestation and continues…
Forebrain takes shape–>
3 stages: 1.) formation 2.) cleavage 3.) midline development
1.) Anomalies of formation stage are not viable and are rare

2.) rostral end expands and creates forebrain and prosencephalon–> after formation of prosencephalon, midline structure indents and cleaves into telencephalon
Issues: Holoprosencephaly (absence of hemipsheric seperation) ; thalamus and hypothalmus do not seperate properly; face–> cyclopia to single central incisor SHH gene (sonic hedgehog gene)

  1. )agenesis of corpus callosum and septooptic dysplasia
    - Septooptic dysplasia–>optic nerve hypoplasia, pituitary dysfunction, absence of septum pellucidum
13
Q

Neuronal Proliferation

A

Disorders of 1.) decreased proliferation 2.) disordered proliferation 3.) abnormal differentiation/maturation

  1. ) microcephaly: primary
    - primary: genetic (decreased proliferation), destructive process (i.e. intrauterine infections, HIE)
  2. ) Hemimegalencephaly: unilateral enlargement of one hemisphere; a/w TSC, hypomelanosis of Ito, linear nevus sebaceous syndrome
  3. ) Cortical dysplasia or cortical hamartoma in TSC
14
Q

Stages of brain development

A
  1. ) neurulation
  2. ) prosencepahlic development
  3. ) neuronal proliferation
  4. )Neuronal migration
  5. ) Postmigrational cortical organization
15
Q

Neuronal Migration

A

3-5 month of gestation–> neurons and glia migrate to cerebral cortex

  • Heterotopia: ectopic neurons outside cortex
  • Lissencephaly: paucity of normal gyri/sulci; “smooth brain”
  • -> can get infantile spasms
  • -> spastic quadriparesis
  • -> intellectual disability
  • -> epilepsy
  • -> de novo mutation
  1. ) classic lissencepahly: agyria or pachygyria
  2. ) cobblestone: overmigration of neurons beyond disrupted basal membrane and pial surface (overlying subarachnoid tissue); associated with congenital muscular dystrophies
16
Q

Postmigrational cortical organization

A

impairment of cortical organization after migration
1.) polymicrogyria: intrauterine CMV or genetic (focal but symmetric lesions such as bilateral perislyvian polymicrogyria or any other region)

  1. ) Schizencephaly: slit or clefts in the cerebral hemisphere
  2. ) post migrational microcephaly
17
Q

Pompe’s disease

A
  • AR
  • ->mutation in GAA gene
  • GAA deficiency (acid alpha-glucosidase)
  • accumulation of glycogen within the lysosome in tissues
  1. )infantile form
    - cardiomyopathy
    - generalized hypotonia
    - respiratory distress
    - feeding difficulties
    - TONGUE enlargement
  2. ) juvenile and adult form
    - progressive myopathy→ limb-girdle distribution, particularly hip flexors
    - delayed gross-motor development
    - early involvement of diaphragm
    - camptocormia (severe anterior flexion of the spine)

3.) GI: dysphagia, GERD, diarrhea, constipation

Work-up

  • Increase CK
  • Increase LDH
  • Increase AST
  • GAA enzyme measured in WBC

Treatment:
-enzyme replacement therapy with alglucosidase alfa

18
Q

Niemann-Pick Disease

A
  • AR
  • storage of lipids
  • 3 types
  1. ) NPD-A
    - Ashkenazai jews
    - hepatosplenomegaly
    - feeding difficulties
    - loss of early motor skills

PNS: hypotonia, absent reflexes, peripheral neuropathy
Lungs: respiratory failure, interstitial lung disease, respiratory infections
Eye: MACULAR CHERRY RED SPOT

  1. ) NPD-B
    - pan-ethnic
    - less severe than A

Neurological signs: cerebellar involvement, nystagmus, extrapyramidal involvement, intellectual disability, peripheral neuropathy
Other: short stature, hyperlipidemia

MRI: cerebellar and supratentorial atrophy

  1. )NPD-C
    - liver, spleen, lung
    - Neurological: clumsiness, gait problems→ ataxia, slow cognitive deterioration, vertical supranuclear opthalmoplegia, seizures, progressive dystonia, dysarthria and dysphagia, hearing loss

Diagnosis of NPD-A and NPD-B and NPD-C

NPD-A

  • hepatosplenomegaly
  • interstitial lung disease
  • macular cherry red spot
  • developmental delay

NPD-B

  • Hepatosplenomegaly
  • thrombocytopenia
  • interstitial lung disease
  • hyperlipidemia

NPD-C

  • newborns: ascites, abnormal LFTs
  • childhood: hepatosplenomegaly, vertical supranuclear gaze palsy, ataxia, dystonia, seizures
  • gelastic cataplexy
  • adults: dementia, depression bipolar, schizophrenia

Treatment:
-Miglustat (decreases lipid storage)

19
Q

Tay-Sachs disease

A
  • AR
  • HEXA mutation
  • Lipid storage disease

1.) infantile form: startle reaction to sound, developmental regression, paralysis, dementia, blindness

  1. ) Juvenile:
    - Psychiatric presentation
    - Proximal muscle weakness
    - Cerebellar: clumsiness, incoordination, ataxia, dysarthria, tremor, abnormal saccades

3.)Adult: progressive dystonia, spinocerebellar degeneration, motor neuron disease with muscle weakness and fasciculations, and/or psychosis

Other: Macular Cherry-Red spot

MRI: cerebellar atrophy
Labs: Elevated CPK, foamy leukocytes, deficient enzyme activity in leukocytes
Biopsy: liver/rectal accumulation of globosides and GM2 gangliosides
EMG: fasciculations
Dx: absent hexasaminidase A enzymatic activity in serum, genetic testing