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
2
Q
Apert Syndrome
A
Acrocephalosyndactyly
Craniostenoses + syndactyly
Webbed fingers or tows Mental retardation Deafness Convulsions Papilledema
3
Q
Lhermitte Duclos Cerebellar Gangliocytoma
A
Caused by abnormal neuronal or glial development
Tigroid appearance on MRI
4
Q
Mitochondrial Diseases
A
MERFF MELAS Lebers hereditary optic atrophy Leigh Syndrome Progressive External Opthalmoplegia Kearnes Sayre
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)
6
Q
Urine color of Phenylketonuria in Ferric Chloride test
A
Green
7
Q
Urine color of Maple syrup urine disease in Ferric Chloride test
A
Navy blue
8
Q
Urine color of Tyrosinemka in Ferric Chloride test
A
Transient pale green
9
Q
Urine color of Histidinemia in Ferric Chloride test
A
Green brown
10
Q
Urine color of Propionic acidemia in Ferric Chloride test
A
Purple
11
Q
Urine color of Methylmalonic Aciduria in Ferric Chloride test
A
Purple
12
Q
All of the hyperammonemias exhibit an autosomal recessive inheritance except?
A
OTC Ornithine Transcarbamylase
Which js X-linked Dominant
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
14
Q
The most fatal of the craniostenoses
A
Clover-shaped skull
15
Q
Most common gene/chromosomal abnormality found in craniostenoses
A
FGFR3
16
Q
Excessive number of abnormally small gyri
A
Polymicrogyria
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
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
19
Q
Mutation in Syndactylic-Craniocerebeal Anomalies
A
One of 2 of FGF fibroblast growth factor or proteins
20
Q
Premature closing of this suture causes SCAPHOCEPHALY
A
SAGITTAL suture
21
Q
Premature closing of this suture causes BRACHYCEPHALY
A
CORONAL suture
22
Q
Premature closing of these sutures causes TURRICEPHALY
A
LAMBDOID and CORONAL sutures
23
Q
Premature closing of half of the CORONAL suture results to:
A
PLAGIOCEPHALY
or wry head
24
Q
Two cerebral hemispheres failed to emerge
A
holoprosencephaly
25
cortex may fail to become sulcated
lissencephaly
26
Zellweger syndrome
is the most severe form neonatal adrenoleukodystrophy
27
Give 3 causes of anencephaly
chromosomal abnormalities
maternal hyperthermia
deficiencies of folate, zinc, copper
28
abnormally broad convolutions in the cortex
pachygyria
29
abnormally narrow convolutions in the cortex
microgyria
30
6 diseases associated with lissencephaly and gene involved
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
31
microcephaly vera
head circumference
32
The most frequent cutaneous abnormality present at birth
Hemangiomas
33
6 Craniocephalic-Skeletal Anomalies
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
34
8 Oculoencephalic (Crania-Ocular) Defects
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)
35
7 Dwarfism
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
36
8 Neurocutaneous Anomalies with Mental Retardation
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
37
When does the fusion of dorsal midline structures of the primitive neural tube occur?
first 3 weeks of postconceptual life
38
An eventration of brain tissue and its coverings through an unfused midline defect in the skull
encephalocele
39
True or False. Posterior encephalocoeles are more severe than anterior.
TRUE.
Far more severe and are attended by grave neurologic deficits grave neurologic deficits such as blindness, ataxia, and mental retardation
40
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
Dandy-Walker Syndrome
41
protrusion of only the dura and arachnoid through the defect in the vertebral laminae, forming a cystic swelling
meningocele
42
usual site of meningocoele
lumbosacral
43
Which is more frequent, meningocoele or myelomeningocoele?
meningomyeloceles 10 times as frequent as meningocele
44
cord is extruded also and is closely applied to the fundus of the cystic swelling
myelomeningocoele
45
often this part of the cord is extruded in myelomeningocoele
cauda equina
46
factors implicated in myeloschis and anencephaly
- 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
47
2 common complications of these severe spinal defects
1 meningitis
| 2 progressive hydrocephalus from a Chiari malformation
48
Other developmental spinal defects
x
49
Chiari Malformation Types
I cervicomedullary descent without meningomyelocoele
II cervicomedullary descent with meningomyelocoele
III meningomyelocoele at high cervical or occipitomedullary
IV cerebellar hypoplasia
50
Morphologic features characteristic of true Chiari
- 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
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
TRUE
52
Type II Chiari Malformation symptoms
- progressive hydrocephalus
- lower cranial nerve abnormalities
- facial weakness
- deafness
- bilateral abducens palsies
53
True or False. In chiari malformation, smallness of the posterior fossa with overcrowding is the primary abnormality leading to the brain malformation
TRUE
54
Type I Chiari Malformation symptoms
(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
True or False. In chiari malformation, if clinical
| progression is slight or uncertain, surgery still is the mainstay of treatment.
FALSE.
| it is probably best to do nothing
56
Patau Syndrome
Trisomy 13
57
Edward's Syndrome
Trisomy 18
58
Cri-duchat Syndrome
Deletion of Chromosome 5
59
Klinefelter Syndrome
XXY
60
Turner Syndrome
XO
61
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
Colpocephaly
62
The most common inherited form of developmental delay
Fragile X syndrome
63
Williams Syndrome
..
64
Prader-Willi Syndrome
..
65
Angelman Syndrome
..
66
Rett Syndrome
--
67
Trisomy 21
Down Syndrome
68
Tuberous Sclerosis triad
aka Bourneville Disease
epilepsy
developmental delay
adenoma sebaceum
69
abnormal gene in Tuberous Sclerosis
the long arm of chromosome 9, designated as TSC 1 (hamartin)
or in the short arm of chromosome 16, TSC 2 (tuberin),
70
How many percent of Tuberous Sclerosis are sporadic cases of no identifiable gene mutation?
15%
71
In tuberous sclerosis. Hamartin and tuberin function
tumor suppressor proteins and interact to suppress cell growth
72
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
FALSE
73
Diagnostic Criteria for Neurofibromatosis 1
1
74
Diagnostic Criteria for Neurofibromatosis 2
c
75
Tuberous Sclerosis. Treatment to suppresses the flexor spasms in infancy and tends to normalize the EEG for a time
ACTH Adrenocorticotropic Hormone
76
Tuberous Sclerosis. causes slight regression of the bodily angiolipomas
Sirolimus
77
Tuberous Sclerosis. This drug has tentatively been shown in a report to shrink subependyrnal giant
cell astrocytomas in some patients
Rapamycin
78
mTOR inhibitor has been found to be useful in suppressing the status epilepticus associated with some cases of
tuberous sclerosis
Everolimus
79
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
molluscum fibrosum
80
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.
buttonholing
81
subcutaneous neural tumors firm, discrete nodules attached to a nerve
plexifomt neuromas
82
small whitish spot (actually a hamartoma) in the iris found in NF1 but not in NF2
Lisch nodule
83
Which is more frequent NF1 or NF2
NF1
84
two of more schwannomas without vestibular nerve tumors in an individual older than age 18 years
genetic locus on chromosome 22
Familial Schannomatosis
this is different from NF2!
85
Characteristics of NF2
- absence or paucity of cutaneous lesions
- progressive deafnes
- bilateral acoustic neuromas
other associated abnormalities: cranial or spinal neurofibromas, meningiomas, glioma, cataracts
86
True or false. cafe-au-lait contains increased number of melanocytes giving its darker appearance
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
True or False. The optic gliomas in NF, just like its other tumors, contain a mixture of fibroblasts & Schwann cells.
FALSE
astrocytes & fibroblasts
88
Palisading of nuclei and sometimes encircling arrangements of cells
Verocay bodies
89
Malignant degeneration of the peripheral tumors in NF
2 to 5% become sarcomas
90
Malignant degeneration of the central tumors in NF
2 to 5% become astrocytomas or glioblastomas
91
Klippel-Trenaunay-Weber Syndrome triad
1 port-wine stain
2 varicose veins
3 bony and soft tissue hypertrophy involving an extremity
92
Klippel-Trenaunay-Weber Syndrome pathophysiology & associated gene
- intrauterine damage to the sympathetic ganglia or intermediolateral tract leading to dilated microscopic arteriovenous anastomoses
- angiogenic factor gene AGGF1
93
Sturge-Weber Syndrome (Meningo- or Encephalofacial Angiomatosis with Cerebral Calcification)
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
Pattern of calcification in Sturge Weber Syndrome, which outlines the involved convolutions of the parietooccipital cortex
tramline
95
A vascular nevus that is entirely below this or above this, means a cerebral lesion is likely absent
eyelid
96
True or False. Cerebral nevi in Sturge Weber is destructive
TRUE
One explanation holds that diversion of blood to the meninges during seizures causes progressive ischemia of the cerebral cortex
97
Responsible gene in Struge Weber and its function
GNAQ
activates extracellular signal-regulated kinase.
98
Chacracteristics of Epidermal Nevus Syndrome
```
Epidermal nevus or linear sebaceous nevus
ipsialateral skull thickening
developmental delay
seizures
hemiparersis
```
99
Mode of inheritance of Osler-Rendu-Weber Disease
aka Hereditary Hemorrhagic Telangiectasia
autosomal dominant
100
2 mutant genes in Osler-Rendu-Weber Disease
aka Hereditary Hemorrhagic Telangiectasia
1 endoglin
| 2 novel kinase
101
Characteristics of Osler-Rendu-Weber Disease
aka Hereditary Hemorrhagic Telangiectasia
- 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
von Hippel-Lindau
- Cerebellar hemangioblastoma (can also be spinal cord, brainstem)
- retinal hemangioblastomas
- renal cell cancer 60%
- some have pheochromocyoma, cystadenoma, polycythemia vera
103
pattern of inheritance of Ataxia-Telangiectasia
autosomal recessive
104
Cogan-Motor Ocular Apraxia
- oculomotor apraxia
| - vertical movements are normal
105
Chracteristic imaging appearance von Hippel-Lindau
- cyst with a nodule contained in its wall
- angiography demonstrates the highly vascular
nature of the nodule
106
Pattern of inheritance von Hippel-Lindau
autosomal dominant
107
causative mutation in Von Hippel Lindau
VHL gene in chromosome 3
| a tumor suppressor gene
108
True or False. Seizures are part of Ataxia-Telangiectasia
FALSE
109
What are the characteristic telangiectasia in Ataxia-Telangiectasia?
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
Associated neoplalsia in Ataxia-Telangiectasia (3)?
bronchopulmonary neoplasi
lymphoma
glioma
111
Why are patients with Ataxia-Telangiectasia prone to recurrent infections?
because almost all patients have decreased immunoglobulins- IgA, IgE and isotypes, lgG2, IgG4 associated with thymic hypoplasia
112
Defective gene in Ataxia-Telangiectasia and its role in the disease pathogenesis
ATM gene
| a kinase that is a transducer in the pathway for DNA repair that halts the cell cycle after DNA damage.
113
Treatment of Ataxia-Telangiectasia
- none
- free radical scavengers like Vitamin E are tried
- refrain from doing diagnostic tests that involve radiation
114
Symptoms of Ataxia-Telangiectasia
- ataxic-dyskinetic
- choreoathetosis, grimacing, and dysarthric speech
- apraxia for voluntary gaze
- lost optokinetic nystagmus
- signs of mild polyneuropathy like CMT
115
Diseases which are caused by a defective DNA repai
1 Xeroderma pigmentosum
2 Ataxia Telangiectasia
3 Cockayne Syndrome
116
Mobius Syndrome
1. Ssx?
2. mode of inheritanc
3. lesion?
1. facial diplegia, ophthalmoplegia
2. autosomal dominant
3 brainstem maldevelopment
