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STEP 2 PEDIATRICS > Mehl. Phakomatoses (neurocutaneous) 04-08 (1) > Flashcards

Mehl. Phakomatoses (neurocutaneous) 04-08 (1) Flashcards

1
Q

Neurofibromatosis type I (NF1).
NF1; AD; chromosome 17

A

.

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2
Q

Neurofibromas,
café au lait spots (hyperpigmented macules),
axillary/groin freckling,
Lisch nodules (iris hamartomas),
pheochromocytoma,
optic nerve glioma,
oligodendroglioma,
ependymoma.

A

Neurofibromatosis type I (NF1).

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3
Q

……
café au lait spots (hyperpigmented macules),
axillary/groin freckling,
Lisch nodules (iris hamartomas),
pheochromocytoma,
optic nerve glioma,
oligodendroglioma,
ependymoma.

Neurofibromatosis type I (NF1).

A

Neurofibromas

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4
Q

Neurofibromas,
……
axillary/groin freckling,
Lisch nodules (iris hamartomas),
pheochromocytoma,
optic nerve glioma,
oligodendroglioma,
ependymoma.

Neurofibromatosis type I (NF1).

A

café au lait spots (hyperpigmented macules)

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5
Q

Neurofibromas,
café au lait spots (hyperpigmented macules),
….
Lisch nodules (iris hamartomas),
pheochromocytoma,
optic nerve glioma,
oligodendroglioma,
ependymoma.

Neurofibromatosis type I (NF1).

A

axillary/groin freckling

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6
Q

Neurofibromas,
café au lait spots (hyperpigmented macules),
axillary/groin freckling,
…..
pheochromocytoma,
optic nerve glioma,
oligodendroglioma,
ependymoma.

Neurofibromatosis type I (NF1).

A

Lisch nodules (iris hamartomas)

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7
Q

Neurofibromas,
café au lait spots (hyperpigmented macules),
axillary/groin freckling,
Lisch nodules (iris hamartomas),
….
optic nerve glioma,
oligodendroglioma,
ependymoma.

Neurofibromatosis type I (NF1).

A

pheochromocytoma

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8
Q

Neurofibromas,
café au lait spots (hyperpigmented macules),
axillary/groin freckling,
Lisch nodules (iris hamartomas),
pheochromocytoma,
….
oligodendroglioma,
ependymoma.

Neurofibromatosis type I (NF1).

A

optic nerve glioma

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9
Q

Neurofibromas,
café au lait spots (hyperpigmented macules),
axillary/groin freckling,
Lisch nodules (iris hamartomas),
pheochromocytoma,
optic nerve glioma,
….
ependymoma.

Neurofibromatosis type I (NF1).

A

oligodendroglioma

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10
Q

Neurofibromas,
café au lait spots (hyperpigmented macules),
axillary/groin freckling,
Lisch nodules (iris hamartomas),
pheochromocytoma,
optic nerve glioma,
oligodendroglioma,
…

Neurofibromatosis type I (NF1).

A

ependymoma

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11
Q

Neurofibromatosis type I (NF1) - need to screen ophtalmo for optic nerve glioma = very important, buvo CMS

A

.

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12
Q

Neurofibromatosis type II (NF2)
NF2; AD; chromosome 22

A

.

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13
Q

Neurofibromatosis type II (NF2).

In kids, sometimes causes bilateral cataracts.
Bilateral acoustic schwannomas + meningioma
in adults.

A

.

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14
Q

In kids, sometimes causes bilateral cataracts. Dx?

A

Neurofibromatosis type II (NF2).

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15
Q

Bilateral acoustic schwannomas + meningioma
in adults. Dx?

A

Neurofibromatosis type II (NF2).

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16
Q

Tuberous sclerosis (TSC).
TSC1; AD; chromosome 9; hamartin
TSC2 ; AD; chromosome 16; tuberin

17
Q

Tuberous sclerosis (TSC).

Periventricular nodules (tubers) on MRI of head,
seizures,
adenoma sebaceum (angiofibromas),
subungual fibromas,
renal angiomyolipoma,
cardiac rhabdomyoma,
hypopigmented macules (“ashleaf spots”), hyperpigmented velvety lesions (“shagreen patches”).

18
Q

Tuberous sclerosis (TSC).

…
seizures,
adenoma sebaceum (angiofibromas),
subungual fibromas,
renal angiomyolipoma,
cardiac rhabdomyoma,
hypopigmented macules (“ashleaf spots”), hyperpigmented velvety lesions (“shagreen patches”).

A

Periventricular nodules (tubers) on MRI of head

19
Q

Tuberous sclerosis (TSC).

Periventricular nodules (tubers) on MRI of head,
..
adenoma sebaceum (angiofibromas),
subungual fibromas,
renal angiomyolipoma,
cardiac rhabdomyoma,
hypopigmented macules (“ashleaf spots”), hyperpigmented velvety lesions (“shagreen patches”).

20
Q

Tuberous sclerosis (TSC).

Periventricular nodules (tubers) on MRI of head,
seizures,
..
subungual fibromas,
renal angiomyolipoma,
cardiac rhabdomyoma,
hypopigmented macules (“ashleaf spots”), hyperpigmented velvety lesions (“shagreen patches”).

A

adenoma sebaceum (angiofibromas),

21
Q

Tuberous sclerosis (TSC).

Periventricular nodules (tubers) on MRI of head,
seizures,
adenoma sebaceum (angiofibromas),
…
renal angiomyolipoma,
cardiac rhabdomyoma,
hypopigmented macules (“ashleaf spots”), hyperpigmented velvety lesions (“shagreen patches”).

A

subungual fibromas

22
Q

Tuberous sclerosis (TSC).

Periventricular nodules (tubers) on MRI of head,
seizures,
adenoma sebaceum (angiofibromas),
subungual fibromas,
…
cardiac rhabdomyoma,
hypopigmented macules (“ashleaf spots”), hyperpigmented velvety lesions (“shagreen patches”).

A

renal angiomyolipoma

23
Q

Tuberous sclerosis (TSC).

Periventricular nodules (tubers) on MRI of head,
seizures,
adenoma sebaceum (angiofibromas),
subungual fibromas,
renal angiomyolipoma,
…
hypopigmented macules (“ashleaf spots”), hyperpigmented velvety lesions (“shagreen patches”).

A

cardiac rhabdomyoma

24
Q

Tuberous sclerosis (TSC).

Periventricular nodules (tubers) on MRI of head,
seizures,
adenoma sebaceum (angiofibromas),
subungual fibromas,
renal angiomyolipoma,
cardiac rhabdomyoma,
…
hyperpigmented velvety lesions (“shagreen patches”).

A

hypopigmented macules (“ashleaf spots”),

25
Q

Tuberous sclerosis (TSC).

Periventricular nodules (tubers) on MRI of head,
seizures,
adenoma sebaceum (angiofibromas),
subungual fibromas,
renal angiomyolipoma,
cardiac rhabdomyoma,
hypopigmented macules (“ashleaf spots”),
….

A

hyperpigmented velvety lesions (“shagreen patches”)

26
Q

Von Hippel-Lindau
VHL; AD; chromosome 3.

27
Q

Cerebellar/retinal hemangioblastomas, bilateral renal cell carcinoma, pancreatic cysts. Dx?

A

Von Hippel-Lindau

28
Q

Von Hippel-Lindau

…
bilateral renal cell carcinoma,
pancreatic cysts.

A

Cerebellar/retinal hemangioblastomas

29
Q

Von Hippel-Lindau

Cerebellar/retinal hemangioblastomas,
…
pancreatic cysts.

A

bilateral renal cell carcinoma

30
Q

Von Hippel-Lindau

Cerebellar/retinal hemangioblastomas,
bilateral renal cell carcinoma,
…

A

pancreatic cysts

31
Q

Sturge-Weber
Not inherited; somatic mosaicism of GNAQ gene

32
Q

Sturge-Weber

Port wine stain birth mark (nevus flammeus; may also present as violaceous papules in temporal distribution), leptomeningeal angioma (presenting as seizure); glaucoma.

33
Q

Sturge-Weber

…
leptomeningeal angioma (presenting as seizure); glaucoma.

A

Port wine stain birth mark (nevus flammeus; may also present as violaceous papules in temporal distribution)

34
Q

Sturge-Weber

Port wine stain birth mark (nevus flammeus; may also present as violaceous papules in temporal distribution), …
glaucoma.

A

leptomeningeal angioma (presenting as seizure);

35
Q

Sturge-Weber

Port wine stain birth mark (nevus flammeus; may also present as violaceous papules in temporal distribution), leptomeningeal angioma (presenting as seizure);
…

STEP 2 PEDIATRICS (67 decks)

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