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Peds COMAT > Genetics > Flashcards

Genetics Flashcards

1
Q

What are some common facial features of turners syndrome?d

A

Low hairline, Webbed neck, small mandible, high arched palate and low set ears

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2
Q

How might an adolescent with turners syndrome present ?

A

Short stature, minimal breast development and primary amenorrhea

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3
Q

What cardiac abnormality is associated with turners syndrome?

A

Bicuspid aortic valve or coarctation

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4
Q

What are the chances of turners syndrome in a woman with advanced age?

A

The same as the normal palpitation! A chromosome deletion is not associated with advanced maternal age (only trisomys are increased)

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5
Q

How do you diagnose turners and what test is inadequate ?

A

Need karyotype - if mosaicism, karyotype may be normal but FISH can detect mosaicism
Buccal smear inaccurate

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6
Q

What is the genetic defect in cri du chat?

A

Deletion of the short arm of chromosome 5

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7
Q

What is the difference between apert syndrome and crouzon syndrome?

A

Both have craniosynostosis but only apert presents with syndactyly

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8
Q

What features of noonan syndrome differentiate from Turner syndrome?

A

Noonan syndrome has pectus excavatum and pulmonic stenosis

Karyotype is normal!!

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9
Q

What is the inheritance of crouzon syndrome?

A

Autosomal dominant

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10
Q

A child presents with craniosynostosis, prominent forehead, proptosis and a beak nose, what syndrome should you consider?

A

Crouzon syndrome

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11
Q

You are presented with a tall male with small testes who is socially awkward, what should you test for?

A

Klinefelters - chromosome analysis

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12
Q

Which age group gives birth to the most amount of trisomies?

A

Women in their 20s

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13
Q

What is the most common abnormality in children with Down syndrome?

A

Hypotonia

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14
Q

If a mother has a full translocation of chromosome 21, what are the chances her child will have Down syndrome?

A

100%

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15
Q

If a child has trisomy without translocation of chromosome 21, what are the chances the mother will have another chicks with Down syndrome?

A

1% plus the age related risk

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16
Q

If an infant had a partial translocation of chromosome 21, what are the chances of recurrence based on which parent the defect came from?

A

The partial translocation has a higher chance of recurrence if it is from the father

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17
Q

What is the age related risk of trisomy 21 in a 22 year old mother?

A

1/1500

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18
Q

What is the age related risk of developing Down syndrome in a child born to a 40y/o mother?

A

1/90

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19
Q

Children with Down syndrome are at increased risk for what 4 conditions?

A

Leukemia
Duodenal atresia
Endocardial cushion defects
Atlantoaxial instability

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20
Q

What are the signs/symptoms of trisomy 13?

A 
"BAD LUCK"
Brain lesions (microcephaly / holoprosencrphaly)
Abnormally low ears 
Digits (polydactyly)
Leukocyte with nuclear projections
Uterus bicornuate or hypoplastic ovaries
Cleft lip/palate
Kidneys (cystic)
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21
Q

What abnormalities exist in the extremities of a patient with Down syndrome?

A

5th digit dysplasia
Simian crease
Hyperextensible joints
Wide gap between 1st and 2nd toe

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22
Q

What syndrome would you consider in a patient with atrial septal defect and upper limb defects including three jointed thumbs?

A

Holt Oram syndrome

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23
Q

What syndrome should you consider in a child with self mutilation and choreiform movements?

A

Lesch nyhan syndrome

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24
Q

What lab abnormalities would you find in a child with lesch nyhan?

A

Elevated uric acid

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25
Q

A patient presents with rocker bottom feet and clenched fists, what syndrome should you consider?

A

Trisomy 18

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26
Q

What abnormal facial features would you find in trisomy 18?

A

Prominent occiput and low set ears

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27
Q

What organs might be found to be abnormal in a child with trisomy 18?

A

Horseshoe kidneys

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28
Q

What syndrome should you consider in a child with cafe au lait spots, fibrous dysplasia and precocious puberty?

A

Mccune Albright syndrome

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29
Q

What two syndromes show genetic imprinting and how?

A

Angelman - chromosome 15 (deletion from mom and 2 copies from dad)
Prader Willi - chromosome 15 (deletion from dad and 2 copies from mom)

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30
Q

What syndrome should you consider in a patient severe developmental delay, movement disorders and excessive laughing?

A

Angelman syndrome

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31
Q

What syndrome should you consider in a patient who is obese with small hands and testicles?

A

Prader Willi

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32
Q

What autosomal recessive disorder is characterized by progressive CNS, oohthalmologic and endocrine problems?

A

Laurence moon syndrome

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33
Q

What are the similarities and differences between Prader Willi and Laurence moon syndrome ?

A

Both have obesity and hypogonadism but only Laurence moon causes syndactyly and retinal dystrophy

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34
Q

What syndrome is associated with omphalocele, Macroglossia, hypospadias, hypoglycemia and hemihypertrophy?

A

Beckwith wiedemann

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35
Q

How do you test for digeorge syndrome?

A

Chromosomal analysis won’t detect the micro deletion - need FiSH study

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36
Q

If mother is a carrier if an X linked recessive disorder, what are the chances she will have an affected child?

A

25% will have disease

25% will be carriers

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37
Q

What are the chances that a mother who is a carrier of an x linked recessive disorder will have an affected male child?

A

50% will be affected

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38
Q

Can a female be affected by an X linked recessive disorder?

A

No! They can only be carriers!

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39
Q

What type of inheritance is androgen insensitivity?

A

X linked recessive

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40
Q

What type of inheritance is wiskott Aldrich?

A

X linked recessive

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41
Q

What type if inheritance is retinitis pigmentosa?

A

X linked recessive

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42
Q

What type of inheritance is nephrogenic diabetes insipidus?

A

X linked recessive

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43
Q

What type if inheritance is duchenne muscular dystrophy ?

A

X linked recessive

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44
Q

What type of inheritance is chronic granulomatous disease?

A

X linked recessive

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45
Q

What type of inheritance is hemophilia?

A

X linked recessive

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46
Q

What type of inheritance is G6PD deficiency ?

A

X linked recessive

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47
Q

What is the only x linked recessive disorder that can be found in a female?

A

Androgen insensitivity - patient is phenotypically female but is genetically XY

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48
Q

What are the 4 X linked dominant disorders?

A

X linked hypophospatemic rickets
Pseudohyperparathyroidism
Acardi syndrome
Alport syndrome

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49
Q

In what syndrome do patients present with macrocephaly, ocular abnormalities and absent corpus callosum?

A

Aicardi syndrome

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50
Q

What type of inheritance is peutz jeghers syndrome?

A

Autosomal dominant disorder

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51
Q

What type of inheritance is Von willebrand disease?

A

Autosomal dominant disorder

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52
Q

What type of inheritance is Huntington chorea?

A

Autosomal dominant disorder

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53
Q

What type of inheritance is waardenburg syndrome?

A

Autosomal dominant disorder

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54
Q

What type of inheritance is Gardner syndrome?

A

Autosomal dominant disorder

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55
Q

What type of inheritance is Marfan syndrome ?

A

Autosomal dominant disorder

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56
Q

What type of inheritance is neurofibromatosis?

A

Autosomal dominant disorder

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57
Q

What type of inheritance is retinoblastoma?

A

Autosomal dominant disorder

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58
Q

What type of inheritance is achondroplasia ?

A

Autosomal dominant disorder

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59
Q

What type of inheritance is tuberous sclerosis?

A

Autosomal dominant disorder

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60
Q

What type of inheritance are the porphyrias?

A

Autosomal dominant disorder

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61
Q

What type of inheritance is galactosemia?

A

Autosomal recessive

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62
Q

What type if inheritance is alpha 1 anti trypsin deficiency ?

A

Autosomal recessive

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63
Q

What type if inheritance is sickle cell disease and thalassemia?

A

Autosomal recessive

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64
Q

What type of inheritance are hurlers and Tay Sachs disease?

A

Autosomal recessive

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65
Q

What type of inheritance is ataxia telangiectasia?

A

Autosomal recessive

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66
Q

What type of inheritance is Wilson disease?

A

Autosomal recessive

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67
Q

What type of inheritance is PKU?

A

Autosomal recessive

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68
Q

What type of inheritance is kartagener syndrome ?

A

Autosomal recessive

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69
Q

When can chorionic villus sampling be performed?

A

12 weeks

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70
Q

When can amniocentesis be performed?

A

16 weeks

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71
Q

What is the best test in predicting fetal lung maturity? Why?
When is this test NOT accurate?

A

Phosphatidylglycerol - absent prior to 35 weeks gestation

Not reliable if diabetes - need total surfactant activity

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72
Q

What are the common findings in fetal alcohol syndrome ?

A

Short philtrum, thin upper lip, facial hypoplasia, short palpebral fissure and small 5th fingernail

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73
Q

What symptoms are associated with teratogenic exposure to anticonvulsants?

A 
Microcephaly
IUGR
Cardiac defect 
Cleft lip
Hypospadias
Cryptorchidism
Club foot 
Cardiac defect
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74
Q

What effects can lithium have on the developing fetus?

A

Ebsteins anomaly

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75
Q

What 5 things can occur to a fetus when mother is taking isotretinoin?

A 
Microcephaly
Micropthalmia
Hypoplastic ears
Truncus arteriosis
Absent thymus
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76
Q

What specific defects are associated with carbamazepine during pregnancy ?

A

Spina bifida

Facial deformities

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77
Q

What specific defects are seen with phenytoin in pregnancy?

A 
Finger stiffness
Nail hypoplasia
Cardiac anomalies
skeletal anomalies 
Ophthalmology anomalies
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78
Q

What specific defects are associated with valproic acid during pregnancy?

A

Neural tube defects

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79
Q

What anatomical defects are associated with warfarin use during pregnancy?

A

Depressed nasal bridge
Hypoplastic distal phalanges
Stippled epiphyses

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80
Q

What fetal defects are found with ace inhibitor use during pregnancy?

A

Anuria
Oligohydramnios
Skull hypoplasia
Fetal hypotension

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81
Q

What is the charge association?

A 
Coloboma & cognitive defects
Heart disease
Atresia choanal
Retarded growth
GU abnormalities
Ear anomalies
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82
Q

What is associated with the VACTERL syndrome?

A 
Vertebral defects
Anal atresia
Cardiac defects (VSD)
TE fistula
Renal defects
Limb abnormalities
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83
Q

What is potter syndrome?

A

Oligohydramnios sequence = hypoplastic lungs, limb malformations (club feet, excess skin on hands), renal agenesis and IUGR

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84
Q

In what condition might the fetal membranes be covered in yellow nodules (amnion nodosum)?

A

Oligohydramnios (potter) sequence

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85
Q

In what syndrome do patients present with a broad thumb and cryptorchidism?

A

Rubinstein taybi syndrome

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86
Q

In what syndrome do patients present with broad thumbs and wide spaces eyes?

A

Pfeiffer syndrome

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87
Q

In what syndrome do patients present with a small chin and growth retardation?

A

Russell silver syndrome

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88
Q

What defects are associated with prune belly syndrome?

A

Bladder outlet obstruction
Oligohydramnios
Pulmonary hypoplasia
Undescended testes

89
Q

What type or inheritance is treacher Collins?

A

Autosomal dominant

90
Q

What syndrome is associated with conductive hearing loss, small jaw and low eyelid abnormalities?

A

Treacher Collins

91
Q

What type of intelligence should you consider in a patient with small jaw and multiple family members with hearing aids ?

A

Treacher Collins - normal intelligence

92
Q

What should you think of in a patient with intellectual disability with hx infantile spasms?

A

Tuberous sclerosis

93
Q

What type of neurological abnormality might you expect in a patient with rhizomelic shortening and large heads?

A

Nerve root compression in small foremen magna in patient with achondroplasia

94
Q

What syndrome would you suspect in a patient with elfin face, wide spaced teeth and upturned nose who is very friendly?

A

Williams syndrome

95
Q

What lab or anatomical defect is associated with Williams syndrome?

A

Hypercalcemia

Supravalvular aortic stenosis

96
Q

What is the most common inherited form of intellectual disability?

A

Fragile X

97
Q

what is the chromosome abnormality in fragile X?

A

Repeat of CGG trinucleotide on X chromosome

98
Q

What is the most common cause of genetic disability?

A

Down syndrome

99
Q

What syndrome would you suspect in a male with large ears, macroorchidism and wierd behavior?

A

Fragile X syndrome

100
Q

What syndrome presents with thick skull, corneal clouding and coarse facial features as well as intellectual disability ?

A

Hurler syndrome

101
Q

What are the similarities and differences between hurler’s and hunter’s syndrome?

A

Both have hepatosplenomegaly and progressive deafness

Hunters syndrome does NOT have corneal clouding and children are short

102
Q

What type of inheritance is hunters syndrome?

A

X linked recessive

103
Q

What testing is appropriate for diagnosing fragile X?

A

DNA testing is more sensitive than karyotype

104
Q

What would you consider in a patient with regression of developmental milestones and wringing hands?

A

Rett syndrome

105
Q

How do females with Rett syndrome regress?

A

Head growth decelerates at 4 months
Stagnation of development from 6-18 months
Loss of milestones between age 1-4 then no further decline

106
Q

What syndrome presents with pointed nose, bird like face and small eyes?

A

Hallermann streiff syndrome

107
Q

How is peutz jeghers syndrome inherited?

A

Autosomal dominant

108
Q

What syndrome should you suspect with mucosal pigmentation of lips and gums and hamartomatous polyps in intestines?

A

Peutz Jeghers syndrome

109
Q

What is the appropriate treatment for peutz jeghers syndrome ?

A

Removal of polyps

110
Q

What syndrome should you consider in a patient with small chin, big tongue relative to chin, cleft palate and micrognathia?

A

Pierre Robin sequence

111
Q

What extremity anomalies are common with Pierre Robin?

A

Syndactyly, clinidactyly, spinal deformities and hip anomalies

112
Q

Does Pierre Robin sequence have developmental or neurological problems ? If so, what?

A

Language/motor delay

seizures

113
Q

What cardiopulmonary abnormality may occur in Pierre Robin and why?

A

Cor pulmonale due to upper airway obstruction

114
Q

What is the first treatment for a patient with sturge weber? Why?

A

Ophthalmology referral to rule out glaucoma or urgent eye problems

115
Q

What syndrome should you suspect in a patient with port wine stain, developmental delay, seizure, hemipenis and vision problems?

A

Sturge weber

116
Q

What syndrome should you suspect in a patient with port wine stain, developmental delay, seizure, hemipenis and vision problems?

A

Sturge weber

117
Q

What is the first treatment for a patient with sturge weber? Why?

A

Ophthalmology referral to rule out glaucoma or urgent eye problems

118
Q

What cardiopulmonary abnormality may occur in Pierre Robin and why?

A

Cor pulmonale due to upper airway obstruction

119
Q

Does Pierre Robin sequence have developmental or neurological problems ? If so, what?

A

Language/motor delay

seizures

120
Q

What extremity anomalies are common with Pierre Robin?

A

Syndactyly, clinidactyly, spinal deformities and hip anomalies

121
Q

What syndrome should you consider in a patient with small chin, big tongue relative to chin, cleft palate and micrognathia?

A

Pierre Robin sequence

122
Q

What is the appropriate treatment for peutz jeghers syndrome ?

A

Removal of polyps

123
Q

What syndrome should you suspect with mucosal pigmentation of lips and gums and hamartomatous polyps in intestines?

A

Peutz Jeghers syndrome

124
Q

How is peutz jeghers syndrome inherited?

A

Autosomal dominant

125
Q

What syndrome presents with pointed nose, bird like face and small eyes?

A

Hallermann streiff syndrome

126
Q

How do females with Rett syndrome regress?

A

Head growth decelerates at 4 months
Stagnation of development from 6-18 months
Loss of milestones between age 1-4 then no further decline

127
Q

What would you consider in a patient with regression of developmental milestones and wringing hands?

A

Rett syndrome

128
Q

What testing is appropriate for diagnosing fragile X?

A

DNA testing is more sensitive than karyotype

129
Q

What type of inheritance is hunters syndrome?

A

X linked recessive

130
Q

What are the similarities and differences between hurler’s and hunter’s syndrome?

A

Both have hepatosplenomegaly and progressive deafness

Hunters syndrome does NOT have corneal clouding and children are short

131
Q

What syndrome presents with thick skull, corneal clouding and coarse facial features as well as intellectual disability ?

A

Hurler syndrome

132
Q

What should be done in a patient with ammonia between 200-600?

A

Benzoate and phenylacetate

133
Q

What should be done if an infant had an ammonia level of >600?

A

Dialysis

134
Q

What inborn errors of metabolism present with normal ABG and normal ammonia ?

A

Aminoacidopathy
Galactosemia
Non-Ketotic hyperglycemia

135
Q

What inborn errors of metabolism are associated with normal ABG but elevated ammonia?

A

Urea cycle defect

Transient hyperammonemia

136
Q

What inborn error of metabolism is associated with metabolic acidosis and high ammonia?

A

Propionic acidemia
Methylmalonic acidemia
Fatty acid oxidation defects

137
Q

What inborn error of metabolism is associated with metabolic acidosis and normal ammonia?

A

Maple syrup urine disease

138
Q

What is the normal serum ammonia value for a newborn?

A

<110

139
Q

What might be the difference between an inborn error of metabolism and brain tumor in the history?

A

Brain tumor will have progressively worsening symptoms

140
Q

What should be the first step after diagnosis of an organic acidemia?

A

Rehydration

141
Q

What lab should be done in a 2 day old infant with acidosis, ketosis and high serum ammonia?

A

Urine organic acid levels

142
Q

If you are presented with a patient who appears septic but is afebrile, what lab should be performed?

A

Serum ammonia , lactic acid, pyruvate, carnitine or acetylcarnitine

143
Q

What should you consider in a patient with metabolic acidosis and bone marrow suppression?

A

Bone marrow suppression can occur with organic acidemias

144
Q

What condition is associated with lethargy, poor feeding, seizures and odor of sweaty feet?

A

Isovaleric acidemia

145
Q

What is the treatment of isovaleric acidemia?

A

Protein restriction

146
Q

What treatment should be given for methylmalonic acidemia?

A

Vitamin B12

147
Q

What is the inheritance pattern of fatty acid oxidation defects?

A

Autosomal recessive

148
Q

How can you diagnose fatty acid oxidation defects?

A

Normal serum amino acids
NO reducing substances or ketones in urine
Plasma acylcarnitine profile

149
Q

What condition would you consider in an infant with hypoglycemia and hepatomegaly after a benign illness?

A

Fatty acid oxidation defect

150
Q

How are urea cycle defects treated?

A

Reducing protein intake and increasing glucose by IV

151
Q

What do you do for a patient diagnosed with urea cycle defect who has ketonuria?

A

Think of a different diagnosis - possibly organic acidemias

152
Q

What diagnosis should you consider in a patient hypotonia and dysmorphic features but normal ammonia?

A

Zellweger

153
Q

What might be the diagnosis in a patient who was born normal but then developed abdominal distention, hypoglycemia and non-glucose reducing substances in the urine?

A

Galactosemia

154
Q

What is the defect in patients with galactosemia? How do you diagnosis?

A

Deficiency of galactose 1 phosphate uridyltransferase (diagnose by measuring GALT in RBCs)

155
Q

How do you treat galactosemia ? Why is it important to treat?

A

Galactose free diet - cataracts are reversible with diet change

156
Q

Which symptom of galactosemia can be reversible with dietary changes?

A

Cataracts

157
Q

What type of infections are common in children with galactosemia ?

A

Gram negative organisms such as E. coli

158
Q

What is the treatment for children who have seizures after each meal? What disease is this?

A

Avoidance of fructose (disease is inherited fructose intolerance)

159
Q

Infants of diabetic mothers are at high risk for what 4 endocrine conditions?

A

Hypoglycemia
Hyperbilirubinemia
Hypocalcemia
Polycythemia

160
Q

What disease should you consider in a patient with hypoglycemia, acidosis, increased tone and seizures ?

A

Maple syrup urine disease

161
Q

What condition presents with Macrosomia, microcephaly, Macroglossia and ohphalocele?

A

Beckwith wiedemann

162
Q

What condition should you consider in a patient with hypoglycemia and ketonuria?

A

Adrenal insufficiency

163
Q

Why do patients with beckwith wiedemann develop hypoglycemia?

A

Islet cell hyperplasia

164
Q

What is the best medication for refractory hypoglycemia? (Resistant to insulin)

A

Diazoxide

165
Q

What condition should you consider in a patient with lactic acidosis, rash, alopecia and neurological symptoms ?

A

Biotinidase deficiency

166
Q

Which amino acids are elevated in patients with maple syrup urine disease?

A

Valine
Isoleucine
Alloisoleucin
Leucine

167
Q

What test should you order in a patient with hypoglycemia, hepatomegaly and seizures?

A

Urine ketones and reducing substances

168
Q

How is alcaptonuria treated?

A

Low phenylalanine and tyrosine diet

169
Q

What disease causes “dark diaper” and why?

A

Alcaptonuria - homogentisic acid in the urine

170
Q

Children with alcaptonuria may also have what conditions?

A

Arthritis and heart disease (but normal intelligence)

171
Q

What condition presents with corneal ulcerations & plaques and thickened skin on the soles of the feet?

A

Oculocutaneous tyrosinemia

172
Q

What amino acids are elevated in homocystinuria? And why?

A

Elevated methionine

173
Q

What condition presents with dislocated lenses, skeletal abnormalities, light skin tone and cognitive defects?

A

Homocystinuria

174
Q

What is the treatment for homocystinuria?

A

Pyridoxine OR diet of high cystine and low methionine

175
Q

What is the difference between Marfan syndrome and homocystinuria ?

A

Marfan syndrome does NOT have cognitive defects but homocystinuria does
Marfan has anterior lens displacement but homocystinuria has posterior displacement

176
Q

Patients with homocystinuria are at risk for what complications ?

A

Thrombi and emboli including PE

177
Q

When should PKU screening be performed?

A

After first protein containing feeds

178
Q

What disease should you consider in a patient who was normal at birth but at 3 months of age developed vomiting, eczema and mousy smelling urine?

A

PKU

179
Q

Patients with PKU will develop what problems if they are left untreated?

A

Microcephaly
Low weight
Congenital heart disease
Profound intellectual disability

180
Q

What is the treatment of PKU?

A

Low phenylalanine formula (lofenalac) and adequate tyrosine intake

181
Q

What should a mother with PKU do prior to becoming pregnant? And why?

A

Low phenylalanine diet to prevent miscarriage, SGA, cardiac defects and intellectual disability

182
Q

What lab findings may be present in children with hurler syndrome?

A

Reduced Alpha L iduronidase in WBCs

183
Q

What syndrome presents with facial coarsening, hepatosplenomegaly and corneal clouding?

A

Hurlers syndrome

184
Q

What is the transmittance of hurlers and hunters syndrome?

A

Hunters is X linked recessive

Hurlers is autosomal recessive

185
Q

What lab findings are found in hunters syndrome ?

A

Low iduronate sulfatase enzyme activity

186
Q

What disease presents with organomegaly, coarse facial features, joint contractures and pebbly skin?

A

Hunter syndrome

187
Q

Which mucopolysaccharidosis presents with cognitive defects and minimal facial corsening?

A

Sanfilippo sundrome

188
Q

What is an abnormal lab finding in sanfilippo syndrome ?

A

Urine with increased heparan sulfate

189
Q

What condition presents with skeletal abnormalities, corneal clouding and normal intelligence?

A

Morquio syndrome

190
Q

What condition presents with club feet, hip dislocation, joint contractures and severe intellectual disability ?

A

I-cell disease (mucolipidosis 2)

191
Q

What are two purine and pyrimidine disorders?

A

Adenosine deaminase deficiency and lesch nyhan syndrome

192
Q

What is the treatment for Von gierke disease?

A

Frequent meals and avoidance of fasting

Glucose infusion until age 2, then cornstarch is used

193
Q

What is the underlying metabolic cause of Von gierke disease ?

A

Deficiency of hepatic glucose 6 phosphatase

194
Q

What condition should you consider in a patient with doll-like face, hypoglycemia, hepatomegaly and high cholesterol?

A

Von gierke disease aka glycogen storage disease type 1

195
Q

What lab findings are abnormal in Von Gierke disease?

A

Hypoglycemia with fasting

Elevated lactic acid and uric acid

196
Q

What is the underlying metabolic cause of pompe disease?

A

Deficiency in lysosomal breakdown of glycogen

197
Q

What disease should you consider in a one month old infant who suddenly becomes floppy with FTT, hypotonia, hard muscles, Macroglossia and hepatomegaly ?

A

Pompe disease aka glycogen storage disease type 2

198
Q

What condition presents in a newborn after having his first protein containing feed who becomes lethargic and comatose ?

A

Non-Ketotic hyperglycinemia

199
Q

Why is familial hypercholesterolemia associated with obesity?

A

It is not! It is due to deficiency of LDL receptors

200
Q

What disease presents with an infant who is very thin and long die to fat tissue that is resistant to insulin?

A

Congenital lipodystrophy

201
Q

What three conditions present with cherry red spot of the retina ?

A

Farber disease
Tay Sachs
Niemann pick

202
Q

What disease presents with skin nodules and painful joints in the first week of life?

A

Farber disease

203
Q

What disease presents with triglyceride and cholesterol esters deposited in the body tissues and calcified adrenal glands?

A

Wolman disease

204
Q

What is the cause of menkes kinky hair syndrome ?

A

Low serum copper and low serum ceruloplasmin with high tissue copper

205
Q

What disease presents with jaundice, hepatomegaly and neurological symptoms?

A

Wilson’s disease

206
Q

What eye findings are common in Wilson’s disease ?

A

Kayser fleischer rings

But normal vision

207
Q

How do you diagnose Wilson disease?

A

Liver biopsy

208
Q

What disease presents with a child who was normal until age 2 when he developed hepatosplenomegaly, bone pain and easy bruising?

A

Gaucher disease

209
Q

What X-ray findings may be seen in gaucher disease?

A

Osteosclerosis and lyric lesions

210
Q

What is chronic juvenile gaucher disease?

A

Less severe form of gaucher with splenomegaly and thrombocytopenia but no CNS involvement

211
Q

What disease presents with orange skin lesions, eye opacities and vascular disease of the kidney, heart and brain?

A

Fabry (a lysosomal lipid storage disease aka sphingolipidoses)

212
Q

What is krabbe disease?

A

A sphingolipidoses with Demyelination with progressive degeneration resulting in death by age two

213
Q

What is the underlying metabolic disorder that causes Tay Sachs disease?

A

Deficiency of hexosaminidase A

214
Q

What disease presents with a normal child until age 9 months who develops lethargy, hypotonia, exaggerated startle reflex, macrocephaly and progressive neurological degeneration and death by age 5 ?

A

Tay Sachs

215
Q

How can you screen for Tay Sachs disease?

A

Amniocentesis or CVS sampling

216
Q

What is the difference between Tay Sachs and Niemann pick?

A

Both have cherry red spots but only Niemann pick has hepatosplenomegaly

217
Q

What may cause a false positive PKU result on newborn screening? When should you suspect this?

A

Deficiency of teyrahydrobiopterin (bH4) - consider this if the patient remains symptomatic despite treatment for PKU

218
Q

What might be the presenting signs of Turner syndrome in an infant?

A

Short 4th/5th metacarpal bones, wide spaced nipple or lymphedema hands/feet

Peds COMAT (23 decks)

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