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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
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”)
26
Von Hippel-Lindau VHL; AD; chromosome 3.
.
27
Cerebellar/retinal hemangioblastomas, bilateral renal cell carcinoma, pancreatic cysts. Dx?
Von Hippel-Lindau
28
Von Hippel-Lindau ... bilateral renal cell carcinoma, pancreatic cysts.
Cerebellar/retinal hemangioblastomas
29
Von Hippel-Lindau Cerebellar/retinal hemangioblastomas, ... pancreatic cysts.
bilateral renal cell carcinoma
30
Von Hippel-Lindau Cerebellar/retinal hemangioblastomas, bilateral renal cell carcinoma, ...
pancreatic cysts
31
Sturge-Weber Not inherited; somatic mosaicism of GNAQ gene
.
32
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
Sturge-Weber ... leptomeningeal angioma (presenting as seizure); glaucoma.
Port wine stain birth mark (nevus flammeus; may also present as violaceous papules in temporal distribution)
34
Sturge-Weber Port wine stain birth mark (nevus flammeus; may also present as violaceous papules in temporal distribution), ... glaucoma.
leptomeningeal angioma (presenting as seizure);
35
Sturge-Weber Port wine stain birth mark (nevus flammeus; may also present as violaceous papules in temporal distribution), leptomeningeal angioma (presenting as seizure); ...
glaucoma.

STEP 2 PEDIATRICS (72 decks)

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