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Overgrowth Flashcards

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1
Q

Patterns of overgrowth can fall into what 4 major categories?

A
  1. tall stature
  2. obesity
  3. macrosomia (all growth parameters elev)
  4. regional overgrowth
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2
Q

Genetic obesity is most likely found as early onset obesity, at what age and why?

A

< 5y
> 95% BMI

  • this is an age where you are growing a ton and still have restrictions on food access
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3
Q

With low tone, you also have low _____ ?

A

metabolic rate

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4
Q

When we have adequate amounts of fat stores, then we produce ___? which travels where? to do what?

A

leptin –> travels to the hypothalamus and stimulates leptin receptor ___> stimualtes POMC neurons to produce hormones to travel through body

ends w dec food intake + inc resting met rate

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5
Q

What is the inheritance pattern for MC4R deficiency?

A

semi-dominant disorder –> partial phenotype w 1 copy + severe pheno w both

AR form is rare

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6
Q

What are clinical features of MC4R deficiency?

A

(semi-dom + rare AR)

Dom: hyperphagia, extreme obesity, early onset
AR: hyperphagia, binge

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7
Q

2-5% total early onset obesity = due to?

A

MC4R deficiency

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8
Q

What is the inheritance pattern for Leptin Def?

A

AD
AR

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9
Q

What are clinical features of Leptin Def?

A

AD: hyperphagia + early onset obesity

AR: freq infections, hypogonadotropic hypogonadism, hypothyroidism

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10
Q

What are treatment options for Leptin Def?

A

leptin replacement

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11
Q

What is more common: Leptin Def OR Leptin receptor def?

A

Leptin Receptor Def, which is sad bc this one does not have treatment option and accoutns for 3% cases of severe obesity

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12
Q

What does POMC deficiency stand for?

A

pro-opio-melano-cortin

melano –> melanin that provides dark pigmentation; classic pt = pale ging
cortin –> cortisol bc POMC stsim the ATCH-cortisol pathway

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13
Q

POMC deficiency involves ____ insufficiency and why?

A

adrenal bc the POMC is supposed to stim the ACTH-cortisol pathway and cannot bc deficiency

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14
Q

What is PSCK1 deficiency?

A

(AR)

So PSCK1 –> processes propeptide hormones into mature form

so when def, leads to malabsorptive diarrhea, low blood sugar after eating, obesity

(so can think abotu if not abs fatsin the intest, then it is like osmotic pull for water –> diarrhea)

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15
Q

What are the disorders that are assoc w macrosomia?

A

NOn-Gen:
- infant of diab mom
Gen:
- BWS
- Sotos
- NFIX related disorders
- Weaver
- PTEN-hamartoma syndrome
- Simpson Golabi Behmel
- Gorlin
- Perlman

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16
Q

Why does infant of diabeteic mother have BW > 4kg usually?

A

they have long exposure to sugar during preg, so then fetus resp by inc insulin levels

they end up storing the extra sugar

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17
Q

What are som symp of infant of diab mom in MILD cases?

A
  • low BS (bc high levels circ insulin)
  • prolonged jaundice, high blood counts
  • septal hypertrophy of heart

good prognosis, can usu come off IV pretty quick

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18
Q

What are som symp of infant of diab mom in SEVERE cases?

A
  • holoprosencephaly
  • caudal regression syndrome –> sacrum + legs def in devel
  • proximal femoral deficiency –> hips + femur not dev well
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19
Q

What are the classic findings in BWS?

A
  • fetal overgrowth
  • omphalocele
  • internal organ overgroth
  • hemihyperplasia
  • macroglossia
  • proptosis
  • risk of Wilms tumor + hepatoblastoma
  • prolonged hypoglycemia (pancreatic necidioblastosis - so they are not releasing insulin the way they should)
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20
Q

What are outcomes like for BWS?

A
  • usu pretty good as long as there is not severe hypoglycemia)
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21
Q

How often do you screen for cancer risks in BWS?

A

so Wilms tumor + hepatoblastoma

(think about hwo overgrowth syn have high turnover rate of cells –> inc cancer risk)

every 3 months

hard bc hepatoblastoma NOT have clear treament

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22
Q

What are screening guidelines outside of cancer screens for BWS?

A
  • AFP every 3 months for 1st 4y
  • renal US every 3 mo until 8y (then annual until mid-adoles)
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23
Q

What is Sotos syndrome caused by?

A

90% caused by LOF from NSD1 (gene regulator)

(usu see changes at seq level)

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24
Q

What are classic findings in Sotos syndrome?

A

(NSD1)

  • inc birthweight (and ht cont even if wt does not)
  • adv bone age (bones mature faster than they should)
  • large, narrow head
  • bossing of forehead
  • receding hairline
  • elongated chin
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25
Q

What are some CNS complications assoc w Sotos?

A

(NSD1)

  • neonatal hypotonia
  • 50% w seizures
  • 97% w ID (30% mild, 40% mod, 20% severe)
  • MRI can detect dilated ventricles, sometimes absent corpus callosum
  • dev delay (walk 15mo, talk 2.5y)
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26
Q

What are some birth anomalies assoc w Sotos Syndrome?

A

(NSD1)

Patent ductus arteriosus (PDA) (=opening between 2 BV leading from heart) and/or ASD

renal anom
scoliosis

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27
Q

What feeding concerns are assoc w Sotos?

A

(NSD1)

  • goes along w the hypotonia
  • feeding diffic –> sometimes FTT (even though child is v big)
  • when ^ corrected, then rapid progress on growth chart

^ can trick physicians bc they can be conf about growth charts

28
Q

What cancer risks are assoc w Sotos?

A

(NSD1)

3% risk for tumors:
- neuroblastoma (any neuroend tumor in adrenal or paraspinal nerves)
- sacrococcygeal teratoma
- presacral ganglioneuroma
- acute lymphocytic leukemia
- small cel lung cancer

29
Q

What screening guidelines for the cancer risks are rec for Sotos?

A

tumor screening is actually not effective bc not good management options

30
Q

What are 2 Sotos-like syndromes?

A
  1. Marshall-Smith (NFIX)
  2. Malan (NFIX)
31
Q

How did they historically categorize Marshall-Smith?

A

though it was conn tissue disorder, maybe collagen causing

thought this bc blue sclera + elongated body

now we know it is NFIX

32
Q

What are some classic findings in Marshall-Smith w regard tot he overgrowth?

A
  • large body size
  • accelerated bone age
  • macrocephaly + high forehead

(NFIX)

33
Q

What are some classic findings in Marshall-Smith when thinking of Resp?

A
  • was consid lethal before bc of resp insuff
  • resp problems/laryngomalacia

(NFIX)

34
Q

What are some classic findings in Marshall-Smith w regard to dysmorphic features?

A
  • large body
  • connective tissue like, hypermobility + blue sclera
  • macrocephaly + high forehead
  • proptosis/prom eyes
  • short nose
  • long, narrow face
  • micrognathia

(NFIX)

35
Q

Is there risk of ID w Marshall-Smith?

A

(NFIX)

yes, they can have corpus callosum abnorm

36
Q

What is the cause of Weaver syndrome?

A

EZH2 (methyl transferase)

AD

37
Q

How is Weaver sim to Sotos?

A

(EZH2)

Both inv overgrowth + adv bone age

38
Q

How does Weaver differ from Sotos in CNS?

A
  • milder ID than Sotos
    (20% normal v 2% in Sotos)
39
Q

What are some classic dysmorphic features in Weaver?

A

(EZH2)

  • Overgrowth
  • camptodactyly
  • fleshy ears
  • micrgnathia, “stuck-on” chin
40
Q

What is the tumor freq in Weaver? What tumors?

A

~4%

  • neuroblastoma
  • acute lymphoblastic leukemia
  • ovarian sinus tumor
  • sacrococcygeal teratoma
  • lymphoma
41
Q

What tumor screening is rec for Weaver syn?

A

(EZH2)

None, similar to Sotos

42
Q

What are the main findings in PTEN hamartoma syndrome?

A
  • macrosomia (but w norm of ht)
  • macrocephaly
  • skin papules + lipomata
  • autism

can be V variable w/in fams

43
Q

What are the 3 major criteria with a star for PTEN ham syn?

A
  1. GI hamartomas (inc ganglioneuromas but NOT hyperpalstic polyps; >/= 3)
  2. Lhermitte-Duclos disease (adult) –> dysplastic gangliocytoma of cerebellum (sudden inab to walk normal gait)
  3. macrocephaly (>/= 97th% - 58cm fe and 60cm ma)
44
Q

What cancers are assoc w PTEN ham syn?

A
  • breast cancer
  • endometrial cancer (epithelial)
  • thyroid cancer (follicular)

also (less common)
- colon
- RCC
- thyroid (pap OR fol variant of pap)

45
Q

*review screeninG for PTEN

A

*OK

46
Q

What is the cause of Simpson Golabi Behmel?

A

x-linked loss of function in GPC3

47
Q

What symp of overgrowth do we see in Simpson Golabi Behmel during preg?

A

(GPC3)

Pre and posnatal overgrowth, and we can see w polyhydramnios in preg

48
Q

What are classic facial features assoc w Simpson Golabi Behmel?

A

(GPC3)
- macrocephaly
- coarse feat
- hypertelorism
- epicanthal folds
- midline groove in lower lip

49
Q

What are classic NON-facial dysmorph features assoc w Simpson Golabi Behmel?

A

(GPC3)
- postaxial polydactyly, syndactyly, broad hands, nail, hypoplasia
- organomegaly, supernumerary nipples

50
Q

What are other classic clincal findings (so other than physical) assoc w Simpson Golabi Behmel?

A

(GPC3)
- CHD, cardiac conduction defects
- cryptorchidism, hernia
- diaphragmatic hernia (~30%)
- cleft lip or palate (~25%)
- ID mild to severe

51
Q

What are 4 things to do to manage symp (non-cancerous) for Simpson Golabi Behmel?

A

(GPC3)
1. EKG
2. Renal US
3. Neuro eval if seizures
4. dev therapies

52
Q

What cancer risks are assoc w Simpson Golabi Behmel?

A

(GPC3)
- Wilms
- Hepatoblastoma
(same as BWS)

53
Q

What is the cause of Gorlin syndrome?

A

PTCH1 or SUFU

54
Q

What overgrowth symp dow e see in Gorlin?

A
  • macrocephaly
  • tall stature
  • tons of BCC
55
Q

What type of therapy should we avoid for Gorlin syn?

A

X-ray therapy

(hard bc need x-rays for ribverteb anom, falx calcification, jaw kerat)

56
Q

What is the cause of Perlman syndrome?

A

DIS3L2
exoribonuclease

57
Q

What are classic findings in Perlman syndrome? (non-cancer)

A
  • polyhydramnios
  • neonatal macrosomia
  • visceromegaly
  • crytochordism
  • ID

high neonatal mortality

(DIS3L2)

58
Q

What are classic cancerous findings in Perlman syndrome?

A

DIS3L2

nephroblastomatosis
64% Wilms

also cystic renal dysplasia

59
Q

What main organs suffer from overgrowth in Proteus Syndrome?

A

spleen, liver, thymus, GI tract

(think of disfigured overgrowth)

(som mos AKT1)

60
Q

What is cause of Proteus syndrome?

A

somatic mosaic variant in AKT1

61
Q

What are some char physical findings in Proteus syndrome?

A

(som mos AKT1)

  • disfiguring
  • limbs, skull, spin are asym
  • cerebriform overgrowth of palms/soles (“moccasin soles”)
62
Q

What are 3 major criteria that must be present for a dx of Proteus syndrome?

A

(som mos AKT1)

  1. mosaic distribtion of lesions
  2. sporadic occurence
  3. progressive course

(usu

63
Q

What can Proteus syndrome look like for a newborn?

A

(som mos AKT1)

can present normally as newborn

once we see symp though, goes fast downhill –> could lead to amputations, for ex

64
Q

CLOVES is what type of overgrowth syndrome category?

A

PIK3CA-Related Overgrowth Spectrum

caused by mosaic mut

65
Q

What does CLOVES stand for?

A

Congenital Lipomatous (fatty) Overgrowth, Vascular malformations, epidermal nevi and Scoliosis/Skeletal/Spinal anomalies

(PIK3CA-related overgrowth spec; mosaic)

66
Q

What is the inheritance pattern of CLOVES?

A

it is somatic mosaicism, so none

PIK3CA

Medical Genetics (14 decks)

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