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General Peds Boards > Genetics and Metabolism > Flashcards

Genetics and Metabolism Flashcards

1
Q

Septo-Optic Dysplasia

A
  • Hypoplastic optic nerve (nystagmus, vision issues)
  • Pituitary deficiencies (micropenis, direct hyperbili)
  • Absence of septum pellucidum
  • HESX1 gene mutation
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2
Q

Tuberous Sclerosis signs/symptoms

A
  • Skin: hypomelanotic macules, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas
  • CNS: brain lesions (subependymal nodules, cortical dysplasias, subependymal giant cell astrocytoma), seizures, developmental delay, ASD, ADHD
  • Nephro: benign angiomyolipomas, renal cysts, malignant angiomyolipoma, and renal cell carcinoma
  • Cardiac rhabdomyomas
  • Pulm: lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia
  • Eye: retinal hamartomas
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3
Q

Tuberous Sclerosis Treatments

A
  • Topical mechanistic target of rapamycin inhibitor (like sirolimus or rapamycin) can improve lesions
  • Oral mechanistic target of rapamycin inhibitors (sirolimus, everolimus) are often used in the treatment of TSC-related complications
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4
Q

Tuberous Sclerosis Genetics

A
  • Mutations in TSC1, which encodes hamartin, or TSC2, which encodes tuberin.
  • Autosomal dominant but 2/3 have de novo mutation
  • Abnormal cellular proliferation that involves activation of rapamycin pathway
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5
Q

Glycogen storage disease type 1 genetics

A
  • Autosomal recessive deficiency of glucose-6-phosphatase catalytic activity (GSDIa) or by a defect in glucose-6-phosphate translocase (GSDIb)
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6
Q

Glycogen storage disease type 1 signs/symptoms

A
  • Exam findings: hepatomegaly, renomegaly, doll like facies, big abdomen, short stature, thin extremities
  • Lab findings: hypoglycemia and lactic acidosis (with fasting), elevated lipids and triglycerides, hyperuricemia
  • Symptoms: poor growth, pubertal delays, gout, CKD, pulmonary hypertension, osteoporosis, hepatic adenomas, pancreatitis, polycystic ovaries, seizures, elevated triglycerides
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7
Q

Bone disease (lytic lesions on xray), hepatosplenomegaly, cytopenias, pulmonary disease, neurologic involvement

A
  • Autosomal recessive lysosomal storage disorder

- Gaucher disease

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8
Q

Pompe disease genetics

A
  • Autosomal recessive - glycogen and lysosomal storage disorder
  • Deficiency in lysosomal breakdown of glycogen
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9
Q

Infant normal at birth that becomes floppy at 1 month of age, failure to thrive, cardiomegaly (HCM), hepatomegaly

A

Pompe disease (glyogen storage disease type II)

  • Other sx: macroglossia, death due to respiratory failure, hypotonia but muscles hard on exam
  • Labs: elevated CK and urinary oligosaccharides, reduced acid a-glucosidase activity, elevated LFTs
  • Tx: enzyme replacement therapy and high protein/low carb diet
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10
Q

Hurler syndrome

A
  • Autosomal recessive lysosomal storage disorder (mucopolysaccharidosis type 1)
  • Presents before age 2
  • Coarsening facial features, umbilical/inguinal hernias, upper respiratory infections, skeletal involvement, hearing loss, hepatosplenomegaly, valvuar cardiac disease, progressive intellectual disability, corneal clouding
  • Labs: reduced alpha-L-iduronidase activity in WBCs
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11
Q

Most common cause of inherited intellectual disability

A
  • Fragile X –> have significant receptive and expressive language problems as well as autistic behaviors and hyperactivity
  • Fragile X is also the most common single gene cause of autism spectrum
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12
Q

Fragile X syndrome exam findings

A

Long face, prominent jaw, portruding ears, high arched palate, strabismus, hyperflexible joints, macro-orchidism

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13
Q

Fragile X genetics

A
  • Trinucleotide repeat of > 200 CGG repeats in the FMR1 gene
  • Seen in 1 in 4000 males and 1 in 8000 females
  • Think of this when running in the family of males
  • Need DNA testing (FMR 1 gene) to diagnose, can’t do on a microarray
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14
Q

Prader Willi syndrome genetics

A
  • Microdeletion on paternal chromosome 15
  • Occurs in 1:10,000-30,000
  • Need a methylation test to detect this
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15
Q

Intellectual disability, hypotonic infant with failure to thrive, obesity/hyperphagia later on

Almond shaped eyes, thin upper lip and downturned mouth, hypogonadism, short stature, small hands/feet

A

Prader Willi syndrome

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16
Q

PKU metabolics

A

Lack of phenylalanine hydroxylase leads to accumulation of phenylalanine

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17
Q

PKU treatment

A
  • Low protein and low phenylalanine formula
  • Tyrosine is an essential amino acid so need to have adequate intake
  • Can be over-treated (lethargy, rash, diarrhea –> low phenylalanine levels)
  • If not treated can lead to irreversible intellectual disability
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18
Q

Marfan syndrome genetics

A
  • Mutation in fibrillin-1 gene (chromosome 15)

- Autosomal dominant

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19
Q

Stickler syndrome

A
  • Pierre Robin sequence (cleft palate, glossoptosis, micrognathia) and severe myopia or other ocular abnormalities
  • Also commonly have skeletal abnormalities (arthritis) or sensorineural hearing loss.
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20
Q

First line genetic testing for global developmental delay and intellectual disability

A

Fragile X and chromosomal microarray

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21
Q

In utero testing and timing

A
  • Chronic villus sampling can be done at 12 weeks

- Amniocentesis can be done at 16 weeks

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22
Q

X-linked recessive facts

A
  • Males are affected (think uncles), females are carriers
  • NO male to male transmission
  • If any affected females in the family then it’s not X-linked recessive
  • Often due to an enzyme deficiency
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23
Q

X-linked recessive transmission

A
  • If mom is carrier: 50% risk of male being affected, 50% risk of female being carrier, 25% risk of any child being carrier or having disease and 50% risk of any child being normal
  • If dad is affected: 100% chance of female being carrier, 0% chance of male being affected, 50% chance of child being carrier/50% being normal
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24
Q

X-linked dominant transmission

A
  • If dad is affected then 100% of daughters will be affected and 0% of sons will be affected
  • If mom has gene on two of her X chromosomes then 50% of her kids will have it and 50% wont
  • There are no carriers of a dominant trait
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25
Q

What inheritance pattern is the only type that can be passed from father to son

A

Autosomal dominant

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26
Q

Genetic anticipation

A

Altered gene is passed down from generation to generation but can begin earlier in life and signs/symptoms become more severe, often due to an increased length of the unstable region in the gene

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27
Q

In an autosomal recessive condition, what portion of unaffected offspring are carriers

A

2/3

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28
Q

Mitochondrial inheritance

A
  • Only moms can pass this on but both males and females can be affected
  • Often many deaths in the family
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29
Q

Karyotype

A

Looks for defects in number, large rearrangements, and inversions

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30
Q

FISH

A
  • You have to know what you’re looking for to do this test

- Single chromsome locus resolution

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31
Q

Chromosomal Microarray

A
  • Order for children with abnormal phenotype or development and unsure what is going on
  • Does NOT detect point mutations, tiny deletions/duplications, balanced chromsomal rearrangements
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32
Q

Methylation test

A
  • Methylation pattern to see which of the parental copies of the gene got deleted
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33
Q

Short stature, broad webbed neck, bicuspid aortic valve, coarcation of the aorta, lymphedema of hands/feet at birth

A

Turner Syndrome

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34
Q

Turner syndrome clinical symptoms

A

Most common: Short stature, broad webbed neck, bicuspid aortic valve, coarcation of the aorta, lymphedema of hands/feet at birth

Others: short 4th/5th metacarpal bones, broad chest with widely spaced nipples, horseshoe kidney, streak ovaries (primary ovarian failure), increased risk of autoimmune conditions like diabetes/IBD/hypothyroidism

Cognition: Normal IQ but can have delayed speech or learning disabilities

Tx: can use growth hormone for short stature

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35
Q

Turner Syndrome genetics

A
  • Full or partial X chromosome deletion (45 XO)
  • Only in females
  • Most common chromosomal defect found in spontaneous abortions
  • Need a karyotype –> can get a FISH if mosaic
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36
Q

Pectus excavatum, webbed neck, low set ears, pulmonic stenosis

A

Noonan syndrome

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37
Q

Noonan syndrome full features

A
  • Eyes: hypertelorism, downslanting, epicanthal folds, droopy lipids
  • Head/neck: coarse hair, inverted triangular facies, deeply grooved philtrum, short/webbed neck
  • Ears: low set, posteriorly rotated, fleshy helices, high frequency hearing loss
  • Short stature
  • Pectus carinatum/excavatum
  • Cardiac: pulmonary valve stenosis is MC, hypertrophic cardiomyopathy
  • Joint laxity
  • Cryptorchidism
  • Coagulation defects
  • Developmental delay
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38
Q

Noonan syndrome genetics

A
  • Male:female ratio is 1:1
  • Karyotype is NORMAL
  • Autosomal dominant inheritance
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39
Q

Ectopia lentis, skeletal abnormalities, aortic dissection/dilation, lumbosacral dural ectasia, asymmetric pectus carinatum

A

Marfan Syndrome

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40
Q

Marfan Syndrome clinical signs

A
  • Skeletal: tall, high arched palate, dental crowding, hypertensible joints, scoliosis, long extremities, pectus excavatum/carinatum
  • Long thing face
  • Cardiac: aortic root dilation/dissection, MVP (but not a major criteria) –> need close cards follow-up
  • Spontaneous pneumothorax/apical blebs
  • Ectopia lentis (upward/anterior displacement of lens of the eye) –> need serial slit lamp exams
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41
Q

Marfan type body but lens displaced downwards/posterior and have developmental delay

A

Homocystinuria

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42
Q

Genetic condition that increases with advanced maternal age

A

Trisomies

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43
Q

Down syndrome genetics

A
  • Translocation: need chromsomal studies of the parents, 10-15% if translocation in mother, 2% if translocation in father
  • Nondisjunction: risk for recurrence is the same as the general population (1%) but must factor in maternal age related risk
  • REMEMBER: age group that GIVES BIRTH TO MORE INFANTS WITH DOWNS is still women in their 20s (overall having more babies) but HIGHEST RISK is women in their 40s
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44
Q

Down syndrome clinical features

A
  • Most common is hypotonia (80%)
    DOWN SYNDROME
  • Dysplasia of middle phalanx of the 5th finger
  • Ouch! Cardiac disease (AV canal or endocardial cushion defects - NW axis on EKG)
  • Wide gap between 1st and 2nd toe
  • Neck has excess skin
  • Spots (brushfield spots in the eye)
  • Y - protruding tongue
  • Nice transverse palmar crease
  • Duodenal atresia (“double bubble”, associated with hirschsprung disease too)
  • Really extensible joints
  • Oncology/leukemia (ALL)
  • Moro reflex is incomplete
  • Ears are small and anomalous (low set)
  • Face: downslanting palpebral fissures
  • Atlantoaxial instability
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45
Q

Trisomy 18 clinical features

A
  • Skeletal: Clenched fist, rocker bottom feet, overlapping fingers, hypoplastic nails
  • Face: prominent occiput, microcephaly, microophthalmia, low set malformed ears
  • Seizures
  • Horseshoe kidneys
  • Cardiac abnormalities
  • Developmental delay
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46
Q

Trisomy 13 clinical feautres

A

BAD LUCK

  • Brain (holoprosencephaly, microcephaly, punched out scalp lesions)
  • Airs (Low set ears)
  • Digits (Polydactyly)
  • Leukocytes
  • Uterus (bicornate uterus and hypoplastic ovaries)
  • Cleft lip and palate
  • Kidneys (cystic)
  • ** CUTIS APLASIA *** is essentially pathognomonic
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47
Q

Tall and infertile teen with small testes and normal intelligence

A
  • Kleinfelter syndrome
  • 47 XXY is most common (80%) but the others are mosaic or variable
  • 30% have social issues or behavior problems, some have speech delays
  • Can also have gynecomastia, increased risk of breast cancer and mediastinal tumors
  • Tx: testosterone supplementation
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48
Q

Angelman syndrome genetics

A
  • Missing maternal portion of chromsome 15
  • Need methylation test to diagnose
  • Often diagnosed between ages 3-7
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49
Q

Profound speech impairment, intellectual disability, ataxia, frequent laughter, happy, microcephaly, seizures, feeding problems

A

Angelman syndrome

50
Q

Beckwith Wiedemann Syndrome genetics

A
  • An overgrowth syndrome due to alteration in chromosome 11
  • Need a methylation test to diagnose (imprinting disorder)
  • Hypoglycemia is due to islet cell hyperplasia
51
Q

Hypospadias, omphalocele, macroglossia, macrosomia, hypoglycemia, hemihypertrophy, renal anomalies

A
  • Beckwith Wiedemann syndrome

- At risk for: rhabdomyosarcoma, Wilm’s (nephroblastoma), or neuroblastoma

52
Q

Beckwith Wiedemann Syndrome monitoring

A

Need AFP every 3 months until age 4 and abdominal ultrasound every 3 months until age 8

53
Q

Differences between 3 types of Gaucher disease

A
  • Type 1: no neurologic involvement
  • Type 2: neuro involvement early before age 2, rapidly progressive, die by age 4 –> due to decreased beta glucosidase activity
  • Type 3: neuro involvement but later onset and not as aggressive
54
Q

Gaucher disease diagnosis and treatment

A
  • Glucocerebrosidase enzyme activity

- Enzyme replacement therapy and then symptomatic management

55
Q

Elfin facies, wide spaced teeth, upturned nose, mild intellectual disability, always happy

A

Williams syndrome

- Also commonly have poor feeding and growth in infancy

56
Q

What electrolyte abnormality and cardiac defect are associated with Williams syndrome

A
  • Hypercalcemia

- Supravalvular aortic stenosis (can also have pulmonary stenosis)

57
Q

Genetics of DiGeorge syndrome

A
  • Autosomal dominant
  • 22q11 microdeletion
  • Diagnose with a microarray
58
Q

Clinical symptoms of DiGeorge

A

CATCH 22

  • Conotruncal defects (Tet)
  • Abnormal facies
  • Thymic aplacia and immunodeficiency (due to poor development of pharyngeal pouches)
  • Cleft palate
  • Hypoparathyroidism (can present with neonatal tetany d/t hypocalcemia)
  • Can treat with thymic transplantation
59
Q

Charge syndrome clinical symptoms

A

CHARGE

  • Coloboma/cognitive deficits
  • Heart defects
  • Atresia/stenosis (choanal)
  • Retarded growth and development
  • GU abnormalities (genital hypoplasia)
  • Ear anomalies (hearing loss)
60
Q

CHARGE syndrome genetics

A
  • Autosomal dominant

- CHD7 gene

61
Q

Broad thumb and cryptorchidism

A

Rubinstein Taybi Syndrome

62
Q

Girl around age 2 that has lost developmental milestones (regression) with autistic behaviors and wringing hands

A

Rett Syndrome

63
Q

Rett syndrome clinical features

A
  • Loss of developmental milestones around 18 months of age
  • Head growth decelerates around 4 months of age
  • Wringing hands
64
Q

VACTERL symptoms

A

Need 3 for diagnosis:

  • Vertebral defects/tethered cord
  • Anal atresia
  • Cardiac defects
  • TE fistula
  • Renal abnormalities
  • Limb abnormalities
  • Often presents with single umbilical artery and growth deficiency is common but INTELLIGENCE IS NORMAL
65
Q

Age needed to recognize to correct craniosynostosis

A
  • Deformation caused by premature fusion of one or more of the sutures
  • 5 months of age
  • Treatment is most successful when done prior to period of greatest head growth
  • Complications if not treated: hydrocephalus, increased ICP
66
Q

Positional plagiocephaly

A
  • NORMAL HEAD CT (sutures are normal)

- Will improve over time on its own

67
Q

Unilateral lambdoid synostosis head shape

A

Trapezoidal (contralateral frontal bossing)

68
Q

Sagittal synostosis head shape

A

Dolichocephaly/scaphocephaly (long skinny egg shaped head)

69
Q

Bilateral coronal synostosis head shape

A

Brachycephaly (short wide head)

70
Q

Metopic synostosis head shape

A

Trigonocephaly (triangle head)

71
Q

Small chin, cleft palate, micrognathia, glossoptosis (tongue sticks out)

A

Pierre Robin sequence

72
Q

Pierre Robin sequence clinical features

A
  • Small chin, cleft palate, micrognathia, glossoptosis –> upper airway obstruction
  • Syndactyly, clinodactyly, hip/knee anomalies, kyphosis/scoliosis
  • 50% have language delay, seizures, or developmental delay
73
Q

Pugilistic facies, hypoplastic lungs, limb malformations (club feet), renal agenesis

A
  • Potter syndrome (oligohydramnios sequence)
  • Cause is renal agenesis
  • Can also have glove like excess skin on hands and fetal membranes covered by yellowish nodules
  • Die of pulmonary complications
74
Q

Triangle face, growth retardation, poor appetite in early years, fifth finger incurving

A

Russell Silver syndrome

75
Q

Prune Belly syndrome cause

A

Lack of abdominal muscle development

  • Bladder outlet obstruction –> oligohydramnios –> pulmonary hypoplasia
  • Also have undescended testes
76
Q

Conductive hearing loss, small jaw, ear anomalies, lower eyelid abnormalities, cleft palate, coloboma of lower eyelid, normal intellectual ability

A

Treacher Collins

77
Q

Large heads, very short extremities, short limbed dwarfism

A

Achondroplasia

  • Autosomal dominant, 80% are de novo mutations
  • Frontal bossing, relative macrocephaly, genu varum (bowlegs)
  • Lumbar lordosis, nerve root compression, sleep apnea
78
Q

Poor feeding, hypoglycemia, lethargy, vomiting, tachypnea, irritability, seizures, coma, apnea

A

General symptoms of inborn errors of metabolism

  • Septic kid that is afebrile
  • Trigger like feeding
79
Q

Metabolism errors with metabolic acidosis and elevated ammonia

A
  • Propionic acidemia
  • Methylmalonic acidemia
  • Fatty acid oxidation defects
80
Q

Metabolism errors with metabolic acidosis and normal ammonia

A
  • MSUD

- Some organic acidemias

81
Q

Metabolism errors with normal pH and elevated ammonia

A
  • Urea cycle defect

- Transient hyperammonemia

82
Q

Metabolism errors with normal pH and normal ammonia

A
  • Aminoacidopathy
  • Galactosemia
  • Non-ketotic hyperglycinemia
83
Q
  • “Drunk like” infant 1-2 days after introduction of protein
A
  • Organic acidemias: methylmalonic acidemia, propionic acidemia, isovaleric acidemia (odor of sweaty feet)
  • Labs: high anion gap, ketonuria, elevated serum ammonia level, acidemia
  • Can have bone marrow suppression so may have low platelets and low WBC
84
Q

Organic acdemias symptoms

A
  • Decrased appetite, falling down, delayed milestones, no dysmorphic features
  • Fast onset (not slow like a brain tumor would be)
85
Q

Treatment of organic acidemias

A
  • Hydration, appropriate diet

- Need to measure urine organic acid levels

86
Q

Inheritence of fatty acid oxidation defects

A

Autosomal recessive

87
Q

Hypoglycemia in first 2 years of life during illness or stress (decreased oral intake), hepatomegaly, seizures, cardiomyopathy

A

Fatty acid oxidation defects

  • MCAD, LCAD, VLCAD, glutaric aciduria
  • Kiddo is fine between episodes
88
Q

Fatty acid oxidation defect labs

A
  • Absence of reducing substances and ketones in the urine (NON KETOTIC!)
  • Metabolic acidosis, hypoketotic hypoglycemia
  • Normal serum amino acids
  • Elevated ammonia and LFTs
  • Definitive diagnosis is plasma acylcarnitine profile (newborn screen)
89
Q

Fatty acid oxidation defect treatment

A
  • D10 IVF and oral L-carnitine

- Avoid fasting

90
Q

Infant with poor feeding and failure to thrive after introduction of lactose

A

Galactosemia (problem with lactose)

- All states screen for galactosemia but infants can present with symptoms before NBS is back

91
Q

Galactosemia symptoms

A

Abdominal distension, hepatomegaly, hypoglycemia, lethargy, hypotonia
- REDUCING SUBSTANCES IN THE URINE

92
Q

Galactosemia treatment

A
  • Soy formula, remove all lactose
93
Q

Galactosemia complications

A
  • Cataracts (reversible with diet change)
  • Intellectual disability
  • Liver and renal disease (reversible)
  • Prolonged jaundice (direct hyperbilirubinemia)
  • Ovarian failure (not reversible - prenatal insult)
  • GRAM NEGATIVE SEPSIS!! (if infant with this infection need to screen for galactosemia)
94
Q

Galactosemia deficiency

A
  • Galactose-1-phosphate uridyltransferase (GALT)

- Definitive diagnosis is made by measuring GALT in RBCs

95
Q

Most important lab to determine etiology of hypoglycemia in an infant

A

Urine ketones and reducing substances

96
Q

Presentation of hyperinsulinism

A
  • Afebrile infant, hypoglycemic seizures, resolves with injection of glucagon
  • Height, weight, head circumference are all above 95th percentile
97
Q

Hypoglycemia, distended abdomen, doll like or cherubic face

Present when infant starts sleeping through the night

A

Glycogen storage disease type 1 (Von Gierke disease)

  • Have lactic acidosis, hyperuricemia, hypertriglyceridemia
98
Q

Glycogen storage disease type 1 (Von Gierke disease) treatment

A
  • Frequent meals/snacks
  • Continuous tube feeds – HAVE TO CONTAIN GLUCOSE
  • Cornstarch after age 2 (releases glucose slowly)
99
Q

Infant with hyperammonemia but no acidosis or ketosis

A

Urea cycle defects

  • Unable to break down nitrogen properly –> accumulation of ammonia
  • Symptom free period followed by encephalopathy within 48-72 hours after birth hypotonia and coma
  • Can have respiratory alkalosis with lactic acidosis
  • Normal anion gap, normal glucose
100
Q

Urea cycle defect types

A
  • OTC (ornithine transcarbamylase) deficiency –> X linked, high urine orotic acid
  • Carbamoyl phosphate synthetase 1 (CPS1) deficiency would have low/undetectable urine orotic acid and is autosomal recessive
101
Q

Urea cycle defect treatments

A
  • Dialysis, hemofiltration
  • IV arginine hydrochloride
  • Protein restriction
  • Increase IV glucose
102
Q

3-6 months of age: motor dysfunction, behavioral disturbances (self injurious), cognitive impairment, hyperuricemia

A

Lesch Nyhan syndrome

  • Uric acid metabolism disorder
  • Screen with urate:creatinine in urine
  • Confirm with hypoxanthine-guanine phosphoribosyltransferase enzyme activity
  • X-linked recessive
103
Q

Maple syrup urine disease symptoms

A
  • Maple smelling urine
  • Tachypnea, shallow breathing, lethargy, irritability, hypertonicity, ketonuria
  • Onset in 1st week of life
104
Q

Maple syrup urine disease lab

A
  • Elevated VIAL amino acids in plasma levels
  • Valine, Isoleucine, Alloisoleucine, Leucine
  • These will be elevated by the end of the first day of life
105
Q

Homocystinuria labs

A
  • Error in methionine metabolism
  • Elevated blood homocystine and methionine levels
  • Elevated urine homocystine levels
106
Q

Homocystinuria symptoms

A
  • Marfans body type but POSTERIOR LENS DISPLACEMENT
  • Cognitive deficits
  • Unpleasant odor
  • Light colored skin, hair, and eyes
  • Thromboembolism –> early death
  • Tx: diet low in methionine and protein as well as betaine, folate, and vitamin B12 supplementation
107
Q

Non-ketotic hyperglycinemia

A

After being fed protein containing formula for the first time
- Lethargic, comatose –> spastic CP if they survive

108
Q

PKU in pregnant woman risks

A
  • Risk for miscarraige, SGA, microcephaly, cardiac defects, intellectual disability
109
Q

Asymptomatic for a few months (blond hair and blue eyes) –> severe vomiting, irritability, eczema, musty odor of the urine

A

PKU

110
Q

False positive PKU newborn screen

A
  • PKU screening is only valid after a protein feeding so needs to be done at 48-72 hours
  • PKU screening checks for elevated phenylalanine levels: delayed enzyme maturation, hyperphenylalaninemia, biopterin deficiency
111
Q

Hunter syndrome

A
  • MPS type II, X-linked recessive
  • Coarse facial features, organomegaly, joint contractures, skin appears pebbly over upper back, progressive deafness, short
  • NO CORNEAL CLOUDING (as compared to Hurler syndrome)
  • Labs: reduced iduronate sulfatase enzyme activity in WBCs
112
Q

Normal development through 9 months –> lethargy, hypotonia, exaggerated startle reflex, cherry red spot on the retina, macrocephaly

A

Tay Sachs disease

  • Autosomal recessive
  • Deficiency of hexosaminidase A enzyme (lysosomal enzyme)
  • Blindness and seizures, death by age 5
  • Increased in Ashkenazi Jews
113
Q

Cherry red spot, CNS deterioration, hepatosplenomegaly

A

Niemann-Pick disease

114
Q

Osteogenesis imperfecta

A
  • Fractures with minimal or no trauma
  • Often have short stature
  • Blue sclera
  • Progressive hearing loss
  • Most are autosomal dominant
115
Q

Fusion of at least 2 cervical vertebrae (short neck, low hairline, limited ROM)

A

Klippel Feil Syndrome

- At risk for spinal stenosis, facial asymmetry, cervical dystonia, scoliosis

116
Q

Infant with failure to thrive, alopecia, scaling dermatitis

A

Biotinidase Deficiency

- Can also have vomiting, dehydration, seizures, hypotonia, ataxia, hearing loss, metabolic acidosis

117
Q

Glycogen storage disease type 1 (Von Gierke disease) complications

A
  • Neutropenia
  • Increased bleeding
  • Short stature
  • Gout
  • Osteoporosis
  • Nephropathy
  • Pancreatitis
  • Polycystic ovaries
  • Pulmonary hypertension
118
Q

Autosomal dominant - hearing loss, lobster claw hands, midface abnormalities

A

Apert’s syndrome

Facial - hypertelorism, proptosis, saddle nose, high arched palate, low set ears

119
Q

Autosomal dominant - atresia and stenosis of ear canal, conductive hearing loss, small maxilla, short upper lip, hypertelorism

A

Crouzon’s syndrome

120
Q

Vertebral fusion or absence of cervical vertebra, facial asymmetry, ear abnormalities/hearing loss, eye abnormalities

A

Goldenhar syndrome

121
Q

Smith Lemli Opitz Syndrome

A
  • Autosomal recessive disorder of cholesterol metabolism
  • Will have low total cholesterol but high 7-dehydrocholesterol
  • Also have abnormal facial features

General Peds Boards (24 decks)

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