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Pediatrics > Genetic and Metabolic Conditions > Flashcards

Genetic and Metabolic Conditions Flashcards

1
Q

A 2-year-old male presents to his PCP for a check-up. Mom states that she is worried about her son because he seems clumsy and is constantly falling when walking. On exam you note that the child seems to have small calf muscles. When you ask him to walk to his mother you note that he crawls up his leg in order to stand. You immediately suspect? What genetic abnormality would you check for? What is the most likely cause of premature death in this child? What would you suspect if this patient had presented in his teens instead?

A
  1. Duchenne Muscular Dystrophy
  2. X-linked recessive dystrophin deficiency
  3. high output CHF
  4. Becker Muscular dystrophy from dystrophin protein abnormality
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2
Q

What is the most common cause of inherited intellectual disability?

A

Fragile X syndrome (X-linked CGG repeat)

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3
Q

What is the typical physical features seen in fragile x syndrome?

A

Large head, long face, large ears, large hands and feet, large testes

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4
Q

What typical conditions is Down Syndrome associated with?

A
  • AV endocardial cushion defects
  • Duodenal atresia
  • Hirschsprung disease
  • Congenital cataracts
  • hypothyroidism
  • ALL
  • early onset dementia
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5
Q

Both Edwards syndrome and Patau’s syndrome present with microcephaly, MR, cardiac defects, and a short life expectancy. What clinical features allow you differentiate between these two conditions?

A

Edwards: Rocker bottom feet and overlapping fingers on a clenched fist

Patau: Midline defects, polydactyly, and absent ribs

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6
Q

A toddler presents to genetics clinic with widely spaced eyes, short stature, and hypotonia. When you begin the exam the child begins to cry and notice a high pitched, “cat like” cry. What genetic abnormality is there?

A

Cri-Du-Chat Syndrome from a deletion of the short arm of chromosome 5.

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7
Q

A “Happy Puppet” baby with hypotonia, seizures and inappropriate laughter has this abnormality?

A

Paternal 15th chromosome deletion. Only maternal chromosome remains.

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8
Q

What is the stereotypical body abnormality seen in Prader-Willi Syndrome (only has paternal chromosome 15)?

A

FTT at birth followed by severe obesity during childhood.

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9
Q

A newborn is noted to have periorbital fullness, a downturned lower lip, a stellate iris, and a systolic heart murmur. What is the likely genetic mutation in this child? What is the heart abnormality?

A

Williams Syndrome-microdeletion of 7q11.12

Supravalvular aortic stenosis

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10
Q

What are the components of WAGR syndrome (11p13 deletion)?

A
  • Wilms tumor
  • Anirdia
  • GU malformations
  • MR
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11
Q

A patient with Alagille Syndrome (AD mutation in JAG1) will likely present with?

A

Cholestasis, jaundice, and pruritus due to lack of bile ducts

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12
Q

What cardiac defect is associated with Alagille Syndrome?

A

Pulmonary valve stenosis

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13
Q

The mnemonic for DiGeorge Syndrome is CATCH 22: What does that include? What is the other large abnormality included in this?

A
  • Cleft Palate
  • Absent Thymus
  • CHD (tet, VSD, interrupted aortic arch)
  • 22q11 deletion

Hypocalcemia from parathyroid gland hypoplasia

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14
Q

A 14-year-old child is presenting for delayed puberty. He is 6’5”, has enlarged breast development, and small testes. What is the syndrome?

A

47 XXY- Klinefelter

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15
Q

What is an infant with Turner Syndrome likely to present with?

A

lymphedema

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16
Q

Why should you remove the steak ovaries of children with Turner Syndrome?

A

To prevent gonadoblastoma

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17
Q

What are the two heart conditions associated with Turner Syndrome?

A
  • Bicuspid aortic valve

- Coarctation of aorta

18
Q

Treacher-Collins Syndrome has these facial abnormalities?

A
  • Mandibular and maxillary hypoplasia
  • Zygomatic arch clefts
  • Ear malformations
19
Q

What is the cause of Achondroplasia?

A

advanced paternal age

20
Q

What are the x-ray findings seen in achondroplasia?

A
  • squared off iliac
  • thick femoral necks
  • ice cream scoop shaped femoral heads
21
Q

What are the symptoms of osteogenesis imperfecta?

A
  • Blue sclera
  • delayed fontanelle closure
  • hyperextensible joints
  • multiple fractures
22
Q

What heart abnormalities are associated with Marfan Syndrome?

A
  • aortic root dilation

- MVP

23
Q

In a patient with lens dislocation, how could differentiate between Marfan Syndrome and Homocystinuria?

A

Marfan Syndrome: Upward and Outward

Homocystinuria: Downward and Inward

24
Q

NF1 is associated with these clinical findings?

A
  • Cafe-au-lait spots
  • Neurofibroms
  • Adolescent axillary freckles
  • optic gliomas
  • sphenoid wing dysplasia
25
Q

BL vestibular schwannomas are associated with?

A

NF2

26
Q

Tuberous Sclerosis has these clinical findings?

A
  • Ash leaf spots
  • Shagreen patches
  • Facial Angiofibromas
  • Nail and Ginival Fibromas
  • Cardiac Rhabdomyomas
  • Seizures and infantile spasms
27
Q

A 2 week old child who was born at home presents to a newborn visit. Mom states that her child has a musty smell constantly no matter how often they bathe him. On exam the child is fair haired and fair skinned despite his mother and fathers dark hair. What would happen if this is not corrected soon?

A

irreversible CNS toxicity and severe MR

28
Q

What amino acids are increased in maple syrup urine disease?

A

leucine, isoleucine, and valine

29
Q

Why do defects in the urea cycle result in brain edema and encephalopathy?

A

Build up of ammonia

30
Q

Why do patients with defects in FA oxidation present with extreme symptoms during illness? what organ system is primarily impacted?

A

They cannot break down FA’s, so during times of fasting or increased need for energy, they have no energy source and become hypoglycemia.

The heart!

31
Q

Galactosemia presents with?

A

Jaundice, HSM, ascites, cataracts, FTT

32
Q

What infection is likely to compromise patients with galactosemia?

A

E. coli sepsis

33
Q

How do you differentiate between Hurler and Hunter Syndromes?

A

Hurler: mid-face hypoplasia, umbilical hernias, cardiomyopathy, and CORNEAL CLOUDING!

Hunter: less severe with no corneal clouding.

34
Q

A newborn is noted to have an exaggerated startle reflex on exam. On further notice there is hypotonia of the trunk, but hypertonia of the extremities. What is the likely disorder and what optic abnormality is likely?

A

Tay-Sachs due to defect in sphinolipid breakdown

Macular cherry-red spot

35
Q

What cell abnormality is present in Niemann-Pick disease?

A

foamy histocytes in bone marrow

36
Q

Niemann Pick disease will have this clinical spectrum symptom which will not be present in Gaucher Disease?

A

Neurological changes: ataxia, loss of tone, loss of motor

37
Q

Gaucher Disease has this cell abnormality?

A

Gaucher (crinkled tissue paper) storage cells in bone marrow.

38
Q

Young boys with “kinky hair” or menkes disease have this laboratory abnormality?

A

low serum copper and low ceruloplasmin

39
Q

A teenage boy with irritability, self-mutilation, and gouty arthritis?

A

Lesch-Nyhan (X-linked)

40
Q

Cystic Fibrosis is due to a defect on what chromosome?

A

7

41
Q

Patients with cystic fibrosis can present with a variety of symptoms depending on their mutation. Name some of the ways that these patients might present.

A
  • Newborn with distal meconium ileus
  • a child <1 year old with coughing, wheezing, recurrent respiratory infections, steatorrhea, and FTT
  • A child >1 year old with steatorrhea and chronic sinopulmonary disease
  • Recurrent pseudemonas or s. aureus lung infections
  • Steatorrhea and pancreatitis
  • unexplained male infertility
  • fat soluble vitamin deficiency
42
Q

Holt-Oram Syndrome is a triad of?

A

Absent radius, ASD, and first degree AV block

Pediatrics (9 decks)

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