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Quick Review > Pediatrics CDB > Flashcards

Pediatrics CDB Flashcards

1
Q

Pituitary Gland: Location?

A

Sella Turcica

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2
Q

Anterior Pituitary Gland

A

Adenohypophysis

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3
Q

Posterior Pituitary Gland

A

Neurohypophysis

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4
Q

Pituitary Gland: Embryology?

A

Rathke’s pouch

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5
Q

The most common type of tumor in the pituitary gland in pediatrics

A

Cranipharyngiomas

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6
Q

Definitive diagnosis of Hypopituitarism

A

Absent or Low levels of Growth Hormone

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7
Q

Polyuria (>5cc/k/hr) and polydypsia

A

Diabetes Insipidus

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8
Q

Master Gland

A

Pituitary Gland

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9
Q

Located in Supraoptic nuclei

A

Vasopressin (ADH)

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10
Q

Located in Paraventricular nuclei

A

Oxytocin

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11
Q

Vasopressin Deficiency

A

Central Diabetes Insipidus

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12
Q

Vasopressin insensitive kidneys

A

Nephrogenic Diabetes Insipidus

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13
Q

Most common etiology of central diabetes insipidus

A

Brain Tumors

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14
Q

2nd Most common etiology of central diabetes insipidus

A

Idiopathic

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15
Q

In Diabetes Insipidus, AVP acts on the

A

Distal Tubules

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16
Q

Significant diagnostic result of Diabetes Insipidus

A

HYPERnatremia

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17
Q

Precious Puberty
Polyostotic fibrous dysplasia
UNILATERAL café-au-lait spots

A

McCune Albright Syndrome

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18
Q

The Coast Of Maine TRIAD:

A

McCune Albright Syndrome:
Precious Puberty
Polyostotic fibrous dysplasia
UNILATERAL café-au-lait spots

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19
Q

DOC for McCune Alright Syndrome

A

Leuprolide acetate

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20
Q

21-hydroxylase Deficiency

A

Congenital Adrenal Hyperplasia

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21
Q

Mutation of CYP21A2 on short arm of chromosome 6

A

Congenital Adrenal Hyperplasia

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22
Q

Define Tall Stature?

A

Taller than 2 standard deviation ABOVE the mean

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23
Q

Cerebral Gigantism

A

Sotos Syndrome

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24
Q

Define Short Stature?

A

More than 3 standard deviation BELOW mean for age and gender

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25
Q

Male phenotype of Turner’s Syndrome

A

Noonan Syndrome

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26
Q

Pigeon breast
Web neck
Hypertelorism

A

Noonan Syndrome

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27
Q

Most common caused by thyroid dysgenesis

A

Hypothyroidism

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28
Q

Seen in maternal autoimmune disease like Hashimoto’s Ds.

A

Thyrotropin Receptor-Blocking Antibody

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29
Q

Most common cause by some form of THYROID DYSGENESIS of which ectopic thyroid is the most frequent

A

Congenital Hypothyroidism

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30
Q

Most common location of congenital hypothyroidism

A

Base of the tongue or sublingual

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31
Q

Earliest sign of congenital hypothyroidism

A

Prolonged jaundice

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32
Q

Earlobe crease + Macroglossia

A

Beckwith Syndrome

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33
Q

Thyroid panel result of Congenital Hypothyroidism

A

TSH ⬆️
T3 ⬆️
T4 ⬇️

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34
Q

Most common cause of thyroid disease in children

A

Thyroiditis

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35
Q

Most common cause of acquired hypothyroidism

A

Thyroiditis

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36
Q

Lymphocytic thyroiditis

A

Hashimoto’s Thyroiditis

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37
Q

Autoimmune thyroiditis

A

Hashimoto’s Thyroiditis

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38
Q

Components of Triple Screen Test

A

Beta HCG
Estriol
Alpha Fetoprotein

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39
Q

Triple Screen Test aka

A

Kettering Test

Barts Test

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40
Q

Catecholamine secreting tumor of the chromaffin cells

A

Pheochromocytoma

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41
Q

Guthrie Test

A

Newborn Screening

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42
Q

Guthrie Test Includes:

A 
Congenital Adrenal Hyperplasia
Congenital Hypothyroidism
G6PD Deficiency
Galactosemia
PKU
Maple Syrup Disease
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43
Q

Prolonged physiologic jaundice + genital edema

A

Congenital Hypothroidism

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44
Q

Female Pseudo-Hermaphroditism

A

21 Hydroxylase Deficiency
11 alpha-hydroxlase Deficiency
3 beta hydroxysteroid dehydrogenase Deficiency

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45
Q

5 alpha reductase deficiency

A

Male PseudoHermaphrodism

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46
Q

Persistent Mullerian Duct Syndrome

A

Male PseudoHermaphrodism

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47
Q

Deficiency of Cortisol

A

Congenital Adrenal Hyperplasia

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48
Q

Classic form of Galactosemia

A

Galactose-1-phosphate uridyl transferase deficiency (GALT)

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49
Q

Episode or chronic hemolytic anemia

A

G6PD Deficiency

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50
Q

Heinz bodies + Reticulocytosis

A

G6PD Deficiency

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51
Q

Mousy or Musty Odor

A

Phenylketonuria

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52
Q

Deficiency of Tetrahydrobiopterin

A

Phenylketonuria

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53
Q

PAH Gene associated with Seizures

A

Folling’s Disease

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54
Q

Required to convert Phenylalanine to Tyrosine

A

Tetrahydrobiopterin

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55
Q

Pre-natal diagnosis of defects in phenylalanine hydroxylase deficiency or dihydropterin reductase

A

DNA Probes

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56
Q

Less reliable screening test employs FeCl3 to detect phenylpyruvate

A

Urinalysis

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57
Q

Tyrosine Precursors except:

A

Tryptophan
Niacin
Serotonin

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58
Q

Tyrosinemia Type 1

A

Fumaryl Acetoacetate Hydroxylase (FAH) deficiency

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59
Q

Tyrosinemia Type II

A

Tyrosine aminotransferase (TAT) Deficiency

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60
Q

Tyrosinemia Type III

A

4-hydroxy-phenylpyruvate dioxygenase (4-HPPD) Deficiency

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61
Q

Clinical Manifestation of TYROSINEMIA

A

Acute hepatic Crisis
Renal involvement
Acute peripheral neuropathy

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62
Q

Diagnostic result of Tyrosinemia found in Urinalysis

A

Succinyacetoacetate

Succinylacetone

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63
Q

Most common inborn error of METHIONINE metabolism

A

Homocystinuria

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64
Q

Basic Defect of Homocystinuria

A

Cystathione synthase deficiency

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65
Q

Tx of Homocystinuria

A

Vitamin B6 (Pyridoxine) 200mg-1g/day

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66
Q

Branched chain alpha ketoacid dehydrogenase deficiency

A

Maple Syrup Urine Disease

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67
Q

On Physical Exam:
Hypertonicity
Muscular rigidity
Opisthotonus

A

Maple Syrup Urine Disease

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68
Q

Urine Odor: Sweaty Feet

A

Glutaric Acidemia (Type III)

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69
Q

Urine Odor: Acrid

A

Glutatic Acidemia (Type III)

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70
Q

Urine Odor: Swimming pool

A

Hawkinsinuria

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71
Q

Urine Odor: Boiled Cabbage

A

Hypermethioninemia

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72
Q

Urine Odor: Tom Cat Urine

A

Multiple Carboxylase Deficiency

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73
Q

Urine Odor: Rotting Fish

A

Trimethylaminuria

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74
Q

Urine Odor: Rancid Butter + Boiled Cabbage

A

Tyrosinemia

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75
Q

Peroxisomal Deficiency

A

Zellweger Syndrome
Infantile Refsum Disease
Adrenoleukodystrophy

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76
Q

7-dehydrocholesterol reductase deficiency

A

Smith-Lemi-Optiz Syndrome

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77
Q

Mutation in the Sterol Delta - 7 - Reductase Gene (DHCR7)

A

Smith-Lemi-Optiz Syndrome

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78
Q

Characterized of hypospadias and syndactyly between toes 2 & 3 (fusion)

A

Smith-Lemi-Optiz Syndrome

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79
Q

Hexosamide A Deficiency

A

Tay-Sachs Disease

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80
Q

GM2 Gangliosidosis

A

Tay-Sachs Disease

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81
Q

Cherry-Red Spot with Optic Atrophy

A

Tay-Sachs Disease

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82
Q

Hexosaminidase A and B Deficiency

A

Sandhoff Disease

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83
Q

Coarse granulation in bone marrow histiocytes

A

Sandhoff Disease

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84
Q

Glucocerebrosidase Deficiency

A

Infantile Gaucher Disease

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85
Q

Crumpled Paper/Tissue Appearance

A

Gaucher Cells

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86
Q

Oculomotor Apraxia and Bilateral Strabismus

A

Infantile Gaucher Disease

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87
Q

Spingomyeline Deficiency

A

Infantile Neimann-Pick Disease

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88
Q

Vacuolated Histiocytes (Foam Cells)

A

Infantile Neimann-Pick Disease

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89
Q

Lipogranulomatosis

A

Farber Disease

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90
Q

Ceramidase Deficiency

A

Farber Disease

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91
Q

Horse Cry

A

Farber Disease

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92
Q

CerebroHepatoRenal Disease

A

Zellweger Disease

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93
Q

Pipecolate Oxidase Deficiency

A

Zellweger Disease

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94
Q

Lorenzo’s Oil

A

Adrenoleukodystrophy

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95
Q

Kinky or Steely Hair Disease

A

Menkes Disease

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96
Q

Trichopoliodystrophy

A

Menkes Disease

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97
Q

2nd most common Deficiency in Copper-dependent enzyme

A

Menkes Disease

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98
Q

Most common Deficiency in Copper-dependent enzyme

A

Willson’s Disease

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99
Q

Pili Torti

A

Menkes Disease

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100
Q

Arylsulfatase A Deficiency

A

Metachromatic Leukodystrophy (MLD)

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101
Q

Fronto-Occipital Demyelination

A

Metachromatic Leukodystrophy

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102
Q

Globoid Cell Leukodystrophy

A

Krabbe Disease

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103
Q

Galactocerebrosidase Deficiency

A

Krabbe Disease

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104
Q

Chromosome 14

A

Krabbe Disease

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105
Q

Pellagra-like Dermatosis

A

Hartnup Disease

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106
Q

Tryptophan Deficiency

A

Hartnup Disease

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107
Q

Phytanoyl-CoA Hydroxylase(Chromosome 10) or Peroxin-7(Chromosome 6)
Deficiency

A

Refsum Disease

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108
Q

Cannot Digest Dairy Products

A

Refsum Disease

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109
Q

Glycogen Deficiency Type 1

A

Von Gierke’s Disease

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110
Q

Glucose-6-Phosphate Deficiency

A

Von Gierke’s Disease

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111
Q

Galactose 1-Phosphate Uridyl Transferase (GALT) Deficiency

A

Galactosemia

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112
Q

Hypoxanthine guanine phosphoribosyl transferase (HPRT) Deficiency

A

Lesch-Nyhan Syndrome

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113
Q

Clinical Manifestation:
Self injurious behavior
Self mutilation

A

Lesch-Nyhan Syndrome

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114
Q

MOA: Inhibits xanthine oxidase

A

Allupurinol

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115
Q
  • Progressive external ophthalmoplegia

- Retinitis pigmentosa

A

Kearans-Sayre Syndrome

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116
Q

Bony Spicule Appearance

A

Retinitis Pigmentosa

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117
Q

Most frequent mitochondrial disease of the perinatal period and early infancy

A

Leigh Encephalopathy

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118
Q

Subacute Periventricular Necrotizing Encephalopathy (SPNE)

A

Leigh Encephalopathy

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119
Q

Most common vasculitis in children

A

Henoch-Schonlein Purpura

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120
Q

Anaphylactoid purpura

A

Henoch-Schonlein Purpura

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121
Q

Vasculitis of SMALL VESSELS

A

Henoch-Schonlein Purpura

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122
Q

Rash describe as palpable purpura on dependent area

A

Henoch-Schonlein Purpura

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123
Q

Mucocutaneous Lymphadenopathy

A

Kawasaki Disease

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124
Q

Polyarteritis nodosa

A

Panarteritis nodosa

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125
Q

Necrotizing vasculitis of small and medium sized vessels

A

Panarteritis nodosa

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126
Q

Vasculitis of large vessels

A

Takayasu’s Arteritis

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127
Q

Pulseless Disease

A

Takayasu’s Arteritis

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128
Q

Hammer Toes

A

Friedreich Ataxia

129
Q

Stork Legs

A

Charcot-Marie-Tooth Disease

130
Q

Cerebellar Hemangioblastomas

A

Von Hippel Lindau Disease

131
Q

47, XXY

A

Klinefelter Syndrome

132
Q

45, XO

A

Turner Syndrome

133
Q

Most common sex chromosome abnormalities in females

A

Turner Syndrome

134
Q

Paternal microdeletion of Chromosome 15

A

Prader-Willi Syndrome

135
Q

Happy Puppet

A

Angelman Syndrome

136
Q

Maternal microdeletion of chromosome 15

A

Angelman Syndrome

137
Q

Facial nevus flammeus

Earlobe crease

A

Beckwith-Wiedemann Syndrome

138
Q

Loss of normal peristalsis in the body of the esophagus and failure of the lower esophageal sphincter (LES) to relax in response to swallowing

A

Achalasia

139
Q

Beaking on barium swallow

A

Achalasia

140
Q

Nonbilous vomiting starts at 3rd week of life

A

Hypertrophic Pyloric Sphincter

141
Q

Olive-shaped mass

A

Hypertrophic Pyloric Sphincter

142
Q

Shoulder sign

A

Hypertrophic Pyloric Sphincter

143
Q

Double Tract Sign

A

Hypertrophic Pyloric Sphincter

144
Q

String Sign

A

Hypertrophic Pyloric Sphincter

145
Q

Triad of Gastric Volvulus

A

Severe epigastric pain
Inability to pass tube into the stomach
Retching with emesis

146
Q

Retching + Hematemesis

A

Mallory Weis Tear

147
Q

Bird’s Beak Sign

A

Gastric Volvulus

148
Q

Inverted U Sign

A

Gastric Volvulus

149
Q

Coffee Bean Sign

A

Gastric Volvulus

150
Q

Failure to RECANALIZE the lumen after the solid phase of the intestinal development during the 4th and 5th week AOG

A

Duodenal Atresia

151
Q

BILIOUS VOMITING without abdominal distension usually noted on the 1st day of life

A

Duodenal Atresia

152
Q

Double Bubble Sign

A

Duodenal Atresia

153
Q

In duodenal atresia, obstruction usually at

A

Distal to the ampulla of vater

154
Q

Soap Bubble Sign

A

Meconium Ileus

155
Q

Egg Shell Pattern

A

Meconium Ileus

156
Q

Ground Glass appearance in the RIGHT LOWER QUADRANT

A

Meconium Ileus

157
Q

Most common congenital gastrointestinal anomaly

A

Meckels Diverticulum

158
Q

Most common cause of lower GI bleeding in children

A

Meckels Diverticulum

159
Q

Brick Colored Stool

A

Meckels Diverticulum

160
Q

Most common cause of lower intestinal obstruction in the neonate

A

Hirschsprung Disease

161
Q

Sausage Shaped Mass

A

Intussuseption

162
Q

Absence of Meissner and Auerbach Plexus

A

Hirschsprung Disease

163
Q

Currant Jelly Stool + Colicky Pain

A

Intussuseption

164
Q

Pellet-Like Stool

A

Hirschsprung Disease

165
Q

Ribbon-like stool

A

Hirschsprung Disease

166
Q

Most common cause of INTESTINAL OBSTRUCTION between 3 months and 6 years of age

A

Intussuseption

167
Q

Coiled Spring Appearance

A

Intussuseption

168
Q

UTZ: Doughnut or Target Sign

A

Intussuseption

169
Q

Prolonged elevated levels of conjugated bilirubin after 14th day of life

A

Neonatal Cholestasis

170
Q

Neonatal infection resulting from inadequate care of the umbilical cord

A

Omphalitis

171
Q

Most common surgical emergency in neonate

A

Necrotizing Enterocolitis

172
Q

Most common site of Necrotizing Enterocolitis

A

Distal Ileum

Proximal Colon

173
Q

Hemoglobin -> Biliverdin

A

Heme oxygnase

Metalloporphyrins

174
Q

Biliverdin -> Bilirubin

A

Biliverdin reductase

Phenobarbital

175
Q

Bilirubin-Albumin Complex -> Conjugated Bilirubin

A

Glucuronyl transferase

176
Q

Conjugated bilirubin -> Urobilinogen

A

Beta-glucuronidase

177
Q

Inherited form of non-hemolytic jaundice

A

Crigler-Najjar Syndrome

178
Q

Autosomal recessive disorder that causes an increase of conjugated bilirubin without elevation of liver enzymes

A

Dubin-Johnson Syndrome

179
Q

Most common hereditary cause of increased bilirubin

A

Gilbert-Meulengracht Syndrome

180
Q

Autosomal recessive metabolic disorder affecting enzyme involved in bilirubin metabolism

A

Lucey-Driscoll Syndrome

181
Q

Non-itching jaundice

A

Rotor Syndrome

182
Q

Transplacental Infections:

A

CMV
Rubella
Listeria monocytogenes
Treponema pallidum

183
Q

Predominant Pathogens in Early Onset of Sepsis

A 
Staph. aureus
Listeria monocytogenes
Strep. agalactiae
Pseudomonas aeruginosa
E. Coli
Kliebsiella pneumoniae
184
Q

Capable of causing corneal perforation and blindness

A

Neisseria gonorrhea

Pseudomonas

185
Q

Classic Triad of Toxoplasmosis

A

Chorioretinitis
Hydrocephalus
Intracranial calsification

186
Q

Intracranial calsification

A

TB
Toxoplasmosis
Cisticercosis
Schistosomiasis

187
Q

Pseudoparalysis of Parrot

A

Osteochondritis

188
Q

Saddle nose vasculitis

A

Wegeners granulomatosis

189
Q

Spoke like pattern

A

Rhagades

190
Q

A zigzag scarring often in a dermatomal distribution

A

Cicatrix

191
Q

Most common clinical manifestation of german measles

A

Sensorineural hearing loss

192
Q

Blueberry Muffin Lesion

A

Congenital Rubella

193
Q

Discrete rose-colored spot on soft palate found in congenital rubella

A

Forscheimer Spot (F Spot)

194
Q

Heterophile NEGATIVE

Most common cause of congenital infection

A

CytoMegaloVirus

195
Q

Striking enlarged epithelial

Mesenchymal cells with LARGE INTRANUCLEAR INCLUSIONS

A

CytoMegaloVirus

196
Q

A vesicular rash that is present at birth or appear shortly thereafter

A

Herpes Simplex

197
Q

Bullneck Appearance

A

Diphtheria

198
Q

Pharyngeal PSEUDOMEMBRANE

A

Diphtheriae

199
Q

haEMOPhilus influenza

A

Epiglotittis
Meningitis
Otitis
Pneumonia

200
Q

Machine gun-like cough

A

Pertussis

201
Q

Seal-like Cough

A

Croup

202
Q

Reversible obstruction airway disease involving both the small and large airways

A

Bronchial Asthma

203
Q

3 components of asthma attack

A

Bronchospasm
Airway obstruction
Mucus production

204
Q

Common disease of the lower respiratory tract of infants

A

Bronchiolitis

205
Q

Severe form of pediatric bronchiolitis

A

Bronchiolitis obliterans

206
Q

Peasoup diarrhea and Rose spots maculopapular rash

A

Salmonella typhi

Enteric Fever

207
Q

Upper airway infection but does not involve the epiglottis

A

Bacterial Tracheitis

208
Q

Brassy Cough

A

Bacterial Tracheitis

209
Q

Texas Star

A

Vibrio Cholera

210
Q

Excessive methylmalonic acid in the urine

A

Vitamin B12 (Cobalamin) Deficiency

211
Q

Most common hematologic disease of infancy & childhood

A

Iron Deficiency Anemia

212
Q

Most common familial and congenital abnormality of the red cell membrane

A

Hereditary Spherocytosis

213
Q

In hereditary spherocytosis, what is the cytoskeletal protein defects

A

SPECTRIN

214
Q

Hamarthrosis

A

Factor VIII Deficiency

215
Q

Disease of Royalty

A

Factor IX Deficiency

216
Q

Most common hereditary bleeding disorder

A

Von Willebrand Disease

217
Q

Factors affecting Vitamin K Deficiency

A

Factors II, VII, IX, X

218
Q

Jaundice within first 24hrs

A

ABO Hemolytic Disease of the Newborn

219
Q

Most common cause of hemolytic disease of the newborn

A

ABO Incompatibility

220
Q

Increased erythrocyte adenosine deaminase

A

Diamond Blackfan Syndrome

221
Q

Congenital Hypoplastic Bone Marrow

A

Diamond Blackfan Syndrome

222
Q

Most common malignant neoplasm in childhood

A

Leukemias

223
Q

Most common childhood malignancy

A

Acute Lymphoblastic Leukemia

224
Q

Predominant neonatal / congenital leukemia

A

Acute Myelogenous Leukemia

225
Q

Positive Myeloperoxidase

A

Acute Myelogenous Leukemia

226
Q

Reed Stenberg Cells

A

Hodgkin Disease

227
Q

Owls Eye Cell

A

Hodgkin Disease

228
Q

Lacunar Cells

A

Hodgkin Disease

229
Q

Most common type of Hodgkin Disease

A

Nodular Sclerosing

230
Q

Most number of Reed Sternberg Cell

A

Mixed Cellularity

231
Q

Worst Prognosis of Hodgkins Disease

A

Lymphocytic Depletion

232
Q

Philadelphia Chromosomal Translocation

A

CML

233
Q

Most common EXTRACRANIAL tumor of CHILDHOOD

A

Neuroblastoma

234
Q

Most frequent diagnosed tumor in infants

A

Neuroblastoma

235
Q

Will cross the midline

A

Neuroblastoma

236
Q

Does not cross the midline of the abdomen

A

Willm’s Tumor

237
Q

Most common EXTRACRANIAL tumor in ADULTS

A

Pheochromocytoma

238
Q

Homer Wright Pseudorosette

A

Neuroblastoma

239
Q

Salt and Pepper Chromatin

A

Neuroblastoma

240
Q

Most common PRIMARY BONE TUMORS in CHILDREN

A

Osteosarcoma

241
Q

Most common PRIMARY BONE TUMORS in ADULTS

A

Multiple Myeloma

242
Q

Spindle-Cell Producing Osteoid

A

Osteosarcoma

243
Q

Metaphysis of long bones

A

Osteosarcoma

244
Q

Diaphysis of long bones

A

Ewing Sarcoma

245
Q

Onion-Skinning

A

Ewing Sarcoma

246
Q

Blue Cells

A

Ewing Sarcoma

247
Q

Moth-Eaten Appearance

A

Ewing Sarcoma

248
Q

Primary tumors arising from the Chest Wall of Ewing Sarcoma

A

Askin Tumors

249
Q

Most common pediatric soft tissue tumor

A

Rhabdomyosarcoma

250
Q

Most common SOFT TISSUE tumor in vaginal (grape-like mass) of pediatrics

A

Botyroid

251
Q

Most common INTRA-OCULAR tumor in childhood

A

Retinoblastoma

252
Q

Flexner-Wintersteiner Bodies/Rosettes

A

Retinoblastoma

253
Q

Most common primary malignancy LIVER neoplasm in CHILDREN

A

Hepatoblastoma

254
Q

Most common primary malignant LIVER neoplasm in ADULT

A

Hepatoma

255
Q

Most common chronic glomerular disease WORLWIDE

A

IgA Nephropathy

256
Q

Most common cause of gross hematuria in children

A

IgA Nephropathy

257
Q

Most common hereditary nephritis

A

Alport’s Syndrome

258
Q

Crescents and LUMPY BUMPY DEPOSITS

A

Acute PSGN

259
Q

Most common of bacterial spontaneous PERITONITIS

A

Nephrotic Syndrome

260
Q

Most common nephrosis in childhood

A

Idiopathic Nephrotic Syndrome

261
Q

Nephroblastoma

A

Wilm’s Tumor

262
Q

WAGR Syndrome

A

Wilm’s Tumor
Aniridia
Genitourinary anomalies
mental Retardation

263
Q

Most severe form of neural tube defect

A

Meningocele

264
Q

Fluctuant mass that transilluminates

A

Meningocele

265
Q

Most severe form of dysraphism involving the VERTEBRAL COLUMN

A

Myelomeningocele

266
Q

Failure of closure of the ANTERIOR (ROSTRAL) NEUROPORE

A

Anencephaly

267
Q

Most common location is occipital but for Asians it is in the FRONTAL or NASOFRONTAL areas

A

Encephalocele

268
Q

Most common cause of OBSTRUCTIVE or noncommunicating hydrocephalus

A

Aqueductal Stenosis

269
Q

Most common cause of NON-OBSTRUCTIVE or communicating hydrocephalus

A

Obliteration of the SUBARACHNOID CISTERNS (subarachnoid hemorrhage)

270
Q

Foreshortened Occiput

A

Chiari Malformation

271
Q

Prominent Occiput

A

Dandy-Walker Malformation

272
Q

Partial or Complete absence of the CEREBELLAR VERMIS

A

Dandy-Walker Malformation

273
Q

Most common seizure disorder in childhood

A

Febrile Seizure

274
Q

5 minutes of seizure without regain of consciousness

A

Status Epilepticus

275
Q

Petit Mal and Blank Stare

A

Absence Seizures

276
Q

Parinaud’s Syndrome

A

Pineal Tumors
Paralysis of upward gaze
Nystagmus (retraction or convergence)
Lid retractions

277
Q

Neurofibromatosis 1

A

Von Recklinghausen Disease

278
Q

Hallmark of neurofibromatosis 1

A

6 or more Café Au Lait Macules

279
Q

Bilateral Acoustic Schwannoma (Aucostic Neuroma)

A

Neurofibromatosis 2

280
Q

Spider Cell

A

Tuberous Sclerosis

281
Q

Candle-Dripping

A

Tuberous Sclerosis

282
Q

Serpentine or Railroad Tract Appearance

A

Sturge Weber

283
Q

Most common chronic motor disability

A

Cerebral Palsy

284
Q

Most common HEREDITARY NEUROMUSCULAR disorder in children

A

Duchenne Muscular Dystrophy

285
Q

Gowers Sign

A

Duchenne Muscular Dystrophy

286
Q

Xp21 Locus

A

Duchenne Muscular Dystrophy

287
Q

Dystrophin Gene

A

Duchenne Muscular Dystrophy

288
Q 
Prominent forhead
Bitemporal hollowing
Anteverted nostrils
Prominent upper lip
Micrognathia
A

Miller-Dieker Syndrome

289
Q

Milk Maid’s Grip

Darting or Parting Tongue

A

Sydenham Chorea

290
Q

Motor and Vocal Tic
Snorting
Coprolalia

A

Gilles de la Tourette Syndrome

291
Q

Emaciation

A

Marasmus

292
Q

Shrunken and wizened face

A

Marasmus

293
Q

Hair is sparse and thin

A

Kwashirkor

294
Q

Cause of Edematous PEM

A

Aflatoxin poisoning

295
Q

Autosomal recessive metabolic disorder affecting the uptake of zinc

A

Acrodermatitis enteropathica

296
Q

“Brandt Syndrome” / “Dandbolt-Cross Syndrome

A

Acrodermatitis enteropathica

297
Q

Scorbutic Rosary

A

Scurvy

298
Q

DISTAL ENDS OF LONG BONES with a ground glass appearance

A

Scurvy

299
Q

Corkscrew Hair

A

Scurvy

300
Q

Disease of growing bones which occurs in children only BEFORE FUSION OF THE EPIPHYSES

A

Rickets

301
Q

Rachitic Rosary

A

Rickets

302
Q

Harison’s Groove

A

Rickets

303
Q

Windswept Deformity

A

Rickets

1 leg valgus other leg varus

304
Q

Most commonest respiratory problem of a premature infant

A

Hyaline Membrane Disease

305
Q

Most common cyanotic heart disease surviving infancy

A

Tetralogy of Fallot

306
Q

Blalock-Taussing Shunt

A

Tetralogy of Fallot

307
Q

Pulmonary arteries arise from aorta

A

Truncus Arteriosus

308
Q

Rostelli Repair

A

Truncus Arteriosus

309
Q

Second most common cause is IDIOPATHIC

A

Primary Pulmonary Hypertension

310
Q

Black Lung

A

Primary Pulmonary Hypertension

311
Q

Coarse streaking granular pattern in both lung field

A

Primary Pulmonary Hypertension

312
Q

Rib Notching

A

Coarctation of the Aorta

313
Q

Most common in children / young adults between 5-15 years old

A

Rheumatic Fever

314
Q

EGG on its side

EGG on a string

A

Transposition of Great Vessels

315
Q

Box Shaped Heart

A

Ebstein’s Anomaly

316
Q

Brock’s Procedure

A

Pulmonary Stenosis

317
Q

Casal’s Necklace

A

Pellagra

dermatitis encircling the neck

318
Q

Premature closure of skull sutures

A

Craniosyntosis

319
Q

Arylsulfatase A Deficiency

A

Metachromatic Leukodystrophy (MLD)

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