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Res Quizzes > Pediatric & Congenital Diseases > Flashcards

Pediatric & Congenital Diseases Flashcards

1
Q

Diseases associated with CORPUS CALLOSUM AGENESIS

A

Aicardi Syndrome
Andermann Syndrome
Non ketotic hyperglycinemia

Epilepsy, developmental delay, psyciatric disturbances

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2
Q

Apert Syndrome

A

Acrocephalosyndactyly
Craniostenoses + syndactyly

Webbed fingers or tows
Mental retardation
Deafness
Convulsions
Papilledema
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3
Q

Lhermitte Duclos Cerebellar Gangliocytoma

A

Caused by abnormal neuronal or glial development

Tigroid appearance on MRI

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4
Q

Mitochondrial Diseases

A 
MERFF
MELAS
Lebers hereditary optic atrophy
Leigh Syndrome
Progressive External Opthalmoplegia
Kearnes Sayre
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5
Q

What diseases are tested in Newborn Screening test?

A

(1) Congenital Hypothyroidism (CH)
(2) Congenital Adrenal Hyperplasia (CAH)
(3) Galactosemia (GAL)
(4) Phenylketonuria (PKU)
(5) Glucose-6-Phosphate-Dehydrogenase Deficiency
(6) Maple Syrup Urine Disease (MSUD)

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6
Q

Urine color of Phenylketonuria in Ferric Chloride test

A

Green

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7
Q

Urine color of Maple syrup urine disease in Ferric Chloride test

A

Navy blue

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8
Q

Urine color of Tyrosinemka in Ferric Chloride test

A

Transient pale green

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9
Q

Urine color of Histidinemia in Ferric Chloride test

A

Green brown

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10
Q

Urine color of Propionic acidemia in Ferric Chloride test

A

Purple

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11
Q

Urine color of Methylmalonic Aciduria in Ferric Chloride test

A

Purple

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12
Q

All of the hyperammonemias exhibit an autosomal recessive inheritance except?

A

OTC Ornithine Transcarbamylase

Which js X-linked Dominant

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13
Q

Name 11 frequent LYSOSOMAL Storage Diseases

A 
Tay-Sachs
Gaucher
Niemann-Pick
GM1 gangliosidosis
Krabbe
Farber lipogranulomatosis
Pelizaues-Merzbacher
Spongy Degeneration / Canavan van Bogaert Bertrand
Alexanser
Lowe Oculorenal Cerebral Disease
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14
Q

The most fatal of the craniostenoses

A

Clover-shaped skull

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15
Q

Most common gene/chromosomal abnormality found in craniostenoses

A

FGFR3

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16
Q

Excessive number of abnormally small gyri

A

Polymicrogyria

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17
Q

3 identified genes thought to alter the glycosylation, inappropriate migration of neurons to the pial surface, leading to nodularity of the surface described as a cobblestone

A

1 fukutin - Fukuyama Muscular Dystrophy
2 POMGNT1 - Muscle Eye Brain Disease
3 POMT1 - Walker-Waeburg Syndrome

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18
Q

7 Syndactylic-Craniocerebral Anomalies or Acrocephalosyndactyly

A

1 2Apert
3 Saethre-Chotzen
4 Pfeiffer
5 Carpenter
6 acrocephalosyndactyly with absenr digits
7 acrocephaly with cleft lip and palate, radial aplsia, absent digits

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19
Q

Mutation in Syndactylic-Craniocerebeal Anomalies

A

One of 2 of FGF fibroblast growth factor or proteins

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20
Q

Premature closing of this suture causes SCAPHOCEPHALY

A

SAGITTAL suture

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21
Q

Premature closing of this suture causes BRACHYCEPHALY

A

CORONAL suture

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22
Q

Premature closing of these sutures causes TURRICEPHALY

A

LAMBDOID and CORONAL sutures

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23
Q

Premature closing of half of the CORONAL suture results to:

A

PLAGIOCEPHALY

or wry head

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24
Q

Two cerebral hemispheres failed to emerge

A

holoprosencephaly

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25
Q

cortex may fail to become sulcated

A

lissencephaly

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26
Q

Zellweger syndrome

A

is the most severe form neonatal adrenoleukodystrophy

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27
Q

Give 3 causes of anencephaly

A

chromosomal abnormalities
maternal hyperthermia
deficiencies of folate, zinc, copper

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28
Q

abnormally broad convolutions in the cortex

A

pachygyria

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29
Q

abnormally narrow convolutions in the cortex

A

microgyria

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30
Q

6 diseases associated with lissencephaly and gene involved

A

1 lissencephaly with cerebellar hypoplasia - RELN gene
2 Miller-Dieker or isolated lissencephaly - LIS1
3 Partington Syndrome Xlinked lissencephaly with hypogonadism - ARX
4 Muscle eye brain disease - POMT1
5 Walker-Warburg POMT1
6 Holoprosencephaly - SHH sonic hedge hog

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31
Q

microcephaly vera

A

head circumference

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32
Q

The most frequent cutaneous abnormality present at birth

A

Hemangiomas

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33
Q

6 Craniocephalic-Skeletal Anomalies

A

1 Craniofacial dysostosis (Crouzon syndrome)
2 Median cleft facial syndrome (frontonasal dysplasia;
hypertelorism of Greig)
3 Chondrodystrophia calcificans congenita (chondrodysplasia punctata, Conradi-Hiinermann syndrome
4 Orofaciodigital syndrome
5 Pyknodysostosis
6 Craniotubular bone dysplasias and hyperostoses

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34
Q

8 Oculoencephalic (Crania-Ocular) Defects

A

1 Anophtlu!lmia with mental retardation.
2 Norrie disease
3 Oculocerebral syndrome with hypopigmentation
4 Microphthalmia with corneal opacities, eccentric pupils, spasticity, and severe mental retardation
5 Aicardi syndrome with ocular abnormality
6 Lissencephaly of the Walker-Warburg type
7 Congenital tapetoretinal degeneration (Leber amaurosis)
8 Septooptic dysplasia (de Morsier syndrome)

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35
Q

7 Dwarfism

A

1 Nanocephalic dwarfism (Seckel bird-headed dwarfism)
2 Russell-Silver syndrome
3 Smith-Lemli-Opitz syndrome
4 Rubinstein-Taybi syndrome
5 Pierre Robin syndrome
6 DeLange syndrome (Cornelia DeLange Syndrome)
7 Smith-Magenis syndrom

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36
Q

8 Neurocutaneous Anomalies with Mental Retardation

A

1 Basal-cell nevus syndrome
2 Congenital ichthyosis, hypogonadism, and mental retardation
3 Xeroderma pigmentosum
4 Sjogren-Larsson syndrome
5 Poikiloderma congenitale (Rothmund-Thompson syndrome)
6 Linear sebaceous nevus S1Jndrome
7 Incontinentia pigmenti (Bloch-Sulzberger syndrome)
8 Focal dermal hypoplasia

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37
Q

When does the fusion of dorsal midline structures of the primitive neural tube occur?

A

first 3 weeks of postconceptual life

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38
Q

An eventration of brain tissue and its coverings through an unfused midline defect in the skull

A

encephalocele

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39
Q

True or False. Posterior encephalocoeles are more severe than anterior.

A

TRUE.

Far more severe and are attended by grave neurologic deficits grave neurologic deficits such as blindness, ataxia, and mental retardation

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40
Q

Syndrome where in there is a cyst-like structure, (fourth ventricle), expands in the midline, causing the occipital bone to bulge posteriorly and displace the tentorium and torcula upward, aplastic cerebellar vermis
+/- corpus callosum agenesis
dilatation of aqueduct, 3rd, lateral ventricles

A

Dandy-Walker Syndrome

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41
Q

protrusion of only the dura and arachnoid through the defect in the vertebral laminae, forming a cystic swelling

A

meningocele

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42
Q

usual site of meningocoele

A

lumbosacral

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43
Q

Which is more frequent, meningocoele or myelomeningocoele?

A

meningomyeloceles 10 times as frequent as meningocele

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44
Q

cord is extruded also and is closely applied to the fundus of the cystic swelling

A

myelomeningocoele

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45
Q

often this part of the cord is extruded in myelomeningocoele

A

cauda equina

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46
Q

factors implicated in myeloschis and anencephaly

A
  • indaquate intake of folate in early pregnancy
  • exposure to antiepileptic drugs such as valproic or carbamazepine
  • maternal diabetes & obesity
  • previous pregnancy affected with spina bifida
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47
Q

2 common complications of these severe spinal defects

A

1 meningitis

2 progressive hydrocephalus from a Chiari malformation

48
Q

Other developmental spinal defects

A

x

49
Q

Chiari Malformation Types

A

I cervicomedullary descent without meningomyelocoele
II cervicomedullary descent with meningomyelocoele
III meningomyelocoele at high cervical or occipitomedullary
IV cerebellar hypoplasia

50
Q

Morphologic features characteristic of true Chiari

A
  • medulla and pons are elongated and the aqueduct is narrowed
  • cerebellum & medulla occludes foramen magnum
  • obliteration of cisterna magna
  • surrounding arachnoidal tissue is fibrotic
  • kink or spur in the spinal cord just below the cerebellar tissue
51
Q

True or False. causation of hydromyelia or syringomyelia of the cervical cord are based on the change in CSF dynamics produced by the Chiari malformation

A

TRUE

52
Q

Type II Chiari Malformation symptoms

A
  • progressive hydrocephalus
  • lower cranial nerve abnormalities
  • facial weakness
  • deafness
  • bilateral abducens palsies
53
Q

True or False. In chiari malformation, smallness of the posterior fossa with overcrowding is the primary abnormality leading to the brain malformation

A

TRUE

54
Q

Type I Chiari Malformation symptoms

A

(1) increased ICP, headache,
(2) progressive cerebellar ataxia,
(3) progressive spastic quadriparesis,
(4) downbeating nystagmus,
or (5) the syndrome of cervical syringomyelia (segmental amyotrophy and sensory loss in the hands and arms, with or without pain)

55
Q

True or False. In chiari malformation, if clinical

progression is slight or uncertain, surgery still is the mainstay of treatment.

A

FALSE.

it is probably best to do nothing

56
Q

Patau Syndrome

A

Trisomy 13

57
Q

Edward’s Syndrome

A

Trisomy 18

58
Q

Cri-duchat Syndrome

A

Deletion of Chromosome 5

59
Q

Klinefelter Syndrome

A

XXY

60
Q

Turner Syndrome

A

XO

61
Q

A rare type of malformation of the brain consisting of marked dilatation of the occipital horns of the lateral ventricles, thickening of the overlying rim of cortical gray matter, and thinning of the white matter

A

Colpocephaly

62
Q

The most common inherited form of developmental delay

A

Fragile X syndrome

63
Q

Williams Syndrome

A

..

64
Q

Prader-Willi Syndrome

A

..

65
Q

Angelman Syndrome

A

..

66
Q

Rett Syndrome

A

–

67
Q

Trisomy 21

A

Down Syndrome

68
Q

Tuberous Sclerosis triad

aka Bourneville Disease

A

epilepsy
developmental delay
adenoma sebaceum

69
Q

abnormal gene in Tuberous Sclerosis

A

the long arm of chromosome 9, designated as TSC 1 (hamartin)
or in the short arm of chromosome 16, TSC 2 (tuberin),

70
Q

How many percent of Tuberous Sclerosis are sporadic cases of no identifiable gene mutation?

A

15%

71
Q

In tuberous sclerosis. Hamartin and tuberin function

A

tumor suppressor proteins and interact to suppress cell growth

72
Q

True or False. Focal neurologic abnormalities, which one might expect to occur from the size and location of some of the lesions, are distinctly common in Tuberous Sclerosis

A

FALSE

73
Q

Diagnostic Criteria for Neurofibromatosis 1

A

1

74
Q

Diagnostic Criteria for Neurofibromatosis 2

A

c

75
Q

Tuberous Sclerosis. Treatment to suppresses the flexor spasms in infancy and tends to normalize the EEG for a time

A

ACTH Adrenocorticotropic Hormone

76
Q

Tuberous Sclerosis. causes slight regression of the bodily angiolipomas

A

Sirolimus

77
Q

Tuberous Sclerosis. This drug has tentatively been shown in a report to shrink subependyrnal giant
cell astrocytomas in some patients

A

Rapamycin

78
Q

mTOR inhibitor has been found to be useful in suppressing the status epilepticus associated with some cases of
tuberous sclerosis

A

Everolimus

79
Q

Neurofibromatosis. multiple cutaneous and subcutaneous tumors situated in the dermis and form discrete soft
or firm papules varying in size from a few millimeters
to a centimeter or more

A

molluscum fibrosum

80
Q

Neurofibromatosis. The phenomenon in which soft tumors tend to invaginate through a small opening in the skin, giving the feeling of a seedlessraisin or a scrotum without a testicle when pressed.
This is useful in distinguishing the lesions of this disease from other skin tumors.

A

buttonholing

81
Q

subcutaneous neural tumors firm, discrete nodules attached to a nerve

A

plexifomt neuromas

82
Q

small whitish spot (actually a hamartoma) in the iris found in NF1 but not in NF2

A

Lisch nodule

83
Q

Which is more frequent NF1 or NF2

A

NF1

84
Q

two of more schwannomas without vestibular nerve tumors in an individual older than age 18 years

genetic locus on chromosome 22

A

Familial Schannomatosis

this is different from NF2!

85
Q

Characteristics of NF2

A
  • absence or paucity of cutaneous lesions
  • progressive deafnes
  • bilateral acoustic neuromas

other associated abnormalities: cranial or spinal neurofibromas, meningiomas, glioma, cataracts

86
Q

True or false. cafe-au-lait contains increased number of melanocytes giving its darker appearance

A

FALSE

they contain normal numbers of melanocytes;
the dark color of the skin is instead the result of an excess of melanosomes in the melanocytes

87
Q

True or False. The optic gliomas in NF, just like its other tumors, contain a mixture of fibroblasts & Schwann cells.

A

FALSE

astrocytes & fibroblasts

88
Q

Palisading of nuclei and sometimes encircling arrangements of cells

A

Verocay bodies

89
Q

Malignant degeneration of the peripheral tumors in NF

A

2 to 5% become sarcomas

90
Q

Malignant degeneration of the central tumors in NF

A

2 to 5% become astrocytomas or glioblastomas

91
Q

Klippel-Trenaunay-Weber Syndrome triad

A

1 port-wine stain
2 varicose veins
3 bony and soft tissue hypertrophy involving an extremity

92
Q

Klippel-Trenaunay-Weber Syndrome pathophysiology & associated gene

A
  • intrauterine damage to the sympathetic ganglia or intermediolateral tract leading to dilated microscopic arteriovenous anastomoses
  • angiogenic factor gene AGGF1
93
Q

Sturge-Weber Syndrome (Meningo- or Encephalofacial Angiomatosis with Cerebral Calcification)

A

unilateral seizures followed by increasing degrees of
spastic hemiparesis with smallness of the arm and leg,
hemisensory defect, and homonymous hemianopia, all on the side contralateral to the trigeminal nevusp

94
Q

Pattern of calcification in Sturge Weber Syndrome, which outlines the involved convolutions of the parietooccipital cortex

A

tramline

95
Q

A vascular nevus that is entirely below this or above this, means a cerebral lesion is likely absent

A

eyelid

96
Q

True or False. Cerebral nevi in Sturge Weber is destructive

A

TRUE

One explanation holds that diversion of blood to the meninges during seizures causes progressive ischemia of the cerebral cortex

97
Q

Responsible gene in Struge Weber and its function

A

GNAQ

activates extracellular signal-regulated kinase.

98
Q

Chacracteristics of Epidermal Nevus Syndrome

A 
Epidermal nevus or linear sebaceous nevus 
ipsialateral skull thickening
developmental delay
seizures
hemiparersis
99
Q

Mode of inheritance of Osler-Rendu-Weber Disease

aka Hereditary Hemorrhagic Telangiectasia

A

autosomal dominant

100
Q

2 mutant genes in Osler-Rendu-Weber Disease

aka Hereditary Hemorrhagic Telangiectasia

A

1 endoglin

2 novel kinase

101
Q

Characteristics of Osler-Rendu-Weber Disease

aka Hereditary Hemorrhagic Telangiectasia

A
  • defect in vessel wall making them fragile
  • spidery vascular skin lesions that blanch
  • high hemorrhagic tendency
  • can have pulmonary fistulas = prone to brain abscess & strokes
102
Q

von Hippel-Lindau

A
  • Cerebellar hemangioblastoma (can also be spinal cord, brainstem)
  • retinal hemangioblastomas
  • renal cell cancer 60%
  • some have pheochromocyoma, cystadenoma, polycythemia vera
103
Q

pattern of inheritance of Ataxia-Telangiectasia

A

autosomal recessive

104
Q

Cogan-Motor Ocular Apraxia

A
  • oculomotor apraxia

- vertical movements are normal

105
Q

Chracteristic imaging appearance von Hippel-Lindau

A
  • cyst with a nodule contained in its wall
  • angiography demonstrates the highly vascular
    nature of the nodule
106
Q

Pattern of inheritance von Hippel-Lindau

A

autosomal dominant

107
Q

causative mutation in Von Hippel Lindau

A

VHL gene in chromosome 3

a tumor suppressor gene

108
Q

True or False. Seizures are part of Ataxia-Telangiectasia

A

FALSE

109
Q

What are the characteristic telangiectasia in Ataxia-Telangiectasia?

A

mainly transversely oriented subpapillary venous plexuses most apparent in the

  • outer parts of the bulbar conjunctivae
  • over the ears, neck, nose and cheeks iflexor creases of the forearm
110
Q

Associated neoplalsia in Ataxia-Telangiectasia (3)?

A

bronchopulmonary neoplasi
lymphoma
glioma

111
Q

Why are patients with Ataxia-Telangiectasia prone to recurrent infections?

A

because almost all patients have decreased immunoglobulins- IgA, IgE and isotypes, lgG2, IgG4 associated with thymic hypoplasia

112
Q

Defective gene in Ataxia-Telangiectasia and its role in the disease pathogenesis

A

ATM gene

a kinase that is a transducer in the pathway for DNA repair that halts the cell cycle after DNA damage.

113
Q

Treatment of Ataxia-Telangiectasia

A
  • none
  • free radical scavengers like Vitamin E are tried
  • refrain from doing diagnostic tests that involve radiation
114
Q

Symptoms of Ataxia-Telangiectasia

A
  • ataxic-dyskinetic
  • choreoathetosis, grimacing, and dysarthric speech
  • apraxia for voluntary gaze
  • lost optokinetic nystagmus
  • signs of mild polyneuropathy like CMT
115
Q

Diseases which are caused by a defective DNA repai

A

1 Xeroderma pigmentosum
2 Ataxia Telangiectasia
3 Cockayne Syndrome

116
Q

Mobius Syndrome

  1. Ssx?
  2. mode of inheritanc
  3. lesion?
A
  1. facial diplegia, ophthalmoplegia
  2. autosomal dominant
    3 brainstem maldevelopment

Res Quizzes (18 decks)

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