Flashcards in VII - Genetic and Pediatric Diseases Deck (184)
Single most important cause of primary amenorrhea
Turner syndrome (TOPNOTCH)Robbins Basic Pathology, 9th ed., p. 166
Most important cause of increased mortality in children with Turner syndrome.
Cardiovascular abnormalities (TOPNOTCH)Robbins Basic Pathology, 9th ed., p. 166
Patient presents with mental retardation, long face with large mandible, large everted ears, and large testicles. The most likely diagnosis is:
Fragile X Syndrome (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 169
Most distinctive feature of Fragile X syndrome
Macro-orchidism(TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 169
The neonate was noted to have microcephaly, short palpebral fissure, maxillary hypoplasia, growth retardation, and psychomotor disturbances. The mother denies intake of drugs during pregnancy. The most likely cause
Deficiency in homogentisic oxidase results in this condition which manifests black discoloration of the urine
Most common cause of respiratory distress in the newborn
Hyaline Membrane Disease (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 457
This teratogenic drug disrupts expression of homeobox proteins implicated in the patterning of lims, vertebrae, and craniofacial structures.
Valproic acid (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 456
Most commonly responsible for fetal growth restriction.
TORCH infections (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 457
Most common maternal condition associated with SGA infants
Vascular diseases (chronic hypertension, preclampsia) (TOPNOTCH) Robbins Basic Pathology, 9th ed, p. 457
A 28 week old male delivered via CS by a diabetiic mother presented with dyspnea and cyanosis. Fine rales are heard over both lung fields. CXR revealed uniform minute reticulogranular densities, producing a ground glass appearance. The fundamental defect in this condition is:
Pulmonary surfactant (Case of RDS) (TOPNOTCH)
The most common cause of mortality in children ages 1-4 years old.
Accidents (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 452
A 28 week old male dies 20 hours after birth. Autopsy findings showed a solid, airless, and reddish purple lungs with poorly developed alveoli. Necrotic cellular debris incorporated within eosinophilic hyaline membranes lines the respiratory bronchioles, alveolar ducts and alveoli. The most likely cause of death of the neonae is:
Respiratory distress syndrome/Hyaline membrane disease (TOPNOTCH)
Premature infant, bottle-fed, developed bloody stool, abdominal distention. Abdominal radiograph showed pneumotis intestinalis. Diagnosis:
Morphology: intestinal segment is distended, friable and congested, with transmural coagulative necrosis, ulceration, bacterial colonization, and submucosal bubbles.
Most common cause of early-onset neonatal sepsis and early-onset bacterial meningitis
Group B streptococcus(TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 460
The most serious threat of fetal hydrops
CNS damage -kernicterus (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 463
Most common site of neuroblastoma
Adrenal medulla (TOPNOTCH)
Presents with a large abdominal mass crossing the midline, hematuria, intestinal obstruction, and hypertension.
Wilm's tumor (TOPNOTCH)
A 22 year old male consults an ophthalmologist for sudden blindness on the right. He is found to have lens subluxation. He is unusually tall and lean, with long limbs and fingers. These findings are due to abnormalities in fibrillin 1, which is secreted by (A) megakaryocytes (B) fibroblasts (C) histiocytes (D) fibroclasts
fibroblasts (TOPNOTCH)Robbins Basic Pathology, 8th Ed, p 230
A lysosomal storage disease with a mutation in the gene that encodes glucosylceramidase presents with an accumulation of glucosylceramide in mononuclear phagocytic cells in the liver, spleen, and marrow. These pathognomonic cells are (A) enlarged, with a "wrinkled tissue paper" cytoplasm (B) epithelioid, with "slipper-shaped" nuclei (C) multinucleated, with 8 to 20 nuclei (D) studded with reddish brown cytoplasmic granules
enlarged, with a "wrinkled tissue paper" cytoplasm (TOPNOTCH)Robbins Basic Pathology, 8th Ed pp237-238
A baby is born with epicanthic folds, flat facial profile, simian crease, and a gap between the first and second toe. Auscultation reveals a holosystolic murmur. The clinical findings are due to an extra chromosome that is most commonly caused by (A) meiotic duplication (B) meiotic nondisjunction (C) fertilization by two spermatozoa (D) translocation
meiotic nondisjunction (TOPNOTCH)Robbins Basic Pathology, 8th Ed p 244
A premature female neonate admitted at the PICU develops sepsis, with blood cultures showing growth of Candida sp. She is also found to be persistently hypocalcemic. She dies on her 7th day. On autopsy, she was found to have fungal endocarditis and thymic hypoplasia. She most likely has (A) an extra chromosome 22 (B) a deletion in chromosome 22 (C) a 9:22 chromosomal translocation (D) a duplication in chromosome 22
a deletion in chromosome 22 (TOPNOTCH)Robbins Basic Pathology, 8th Ed pp 245-246
A stillborn fetus is found to have polydactyly, an umbilical hernia, and cleft lip and palate. Autopsy showed a ventral septal defect, renal dysplasia, and holoprosencephaly. Karyotyping will likely show (A) Monosomy X (B) Deletion in chromosome 5 (C) Trisomy 13 (D) Trisomy 18
Trisomy 13 (TOPNOTCH)Robbins Basic Pathology, 8th Ed p 245.
A 19 year old female consults a gynecologist for primary amenorrhea. Apart from her short stature, there are no other unusual clinical findings. Why must Turner Syndrome be ruled out? (A) mosaicism or partial monosomy may produce a mild form of the syndrome (B) 45,X abnormalities manifest in only half of females by the age of 18 (C) when combined with Fragile X, the typical features such as neck webbing and cubitus valgus are masked (D) supplementation with folate during gestation masks the typical features of neck webbing and cubitus valgus
mosaicism or partial monosomy produces a milder form (TOPNOTCH)Robbins Basic Pathology, 8th Ed pp247-248
A stillborn male fetus delivered to a 41 year old G7P7 is found to have flattened facies and clubbed feet. Autopsy showed renal agenesis and pulmonary hypoplasia. What is the main culprit of the findings in the fetus? (A) maternal age (B) multiparity (C) renal agenesis (D) pulmonary hypoplasia
renal agenesis (TOPNOTCH)Robbins Basic Pathology, 8th Ed pp 253-254
A G3P3 mother has premature rupture of membranes at 35 weeks age of gestation, and delivers a live baby boy with poor APGAR scores. The obstetrician delivered a placenta with dull-looking membranes, which showed chorioamnionitis on histopathology. Culture of which organism from the placental tissue suggests an transcervical origin of infection? (A) Group B Streptococcus (B) Toxoplasma (C) Plasmodium (D) Rubella
Group B Streptococcus (TOPNOTCH)Robbins Basic Pathology, 8th Ed p. 256
A G1P1 preeclamptic mother delivers a live baby boy at 27 weeks age of gestation. The baby develops respiratory distress a few minutes later and is admitted at the PICU. He dies the next day, and is sent for autopsy. Which of the following supports respiratory distress syndrome of the newborn? (A) thickened alveolar septa with lymphocytic infiltrates (B) alveolar spaces filled with neutrophils (C) eosinophilic material lining the alveolar walls (D) hemosiderin laden macrophages in the alveolar spaces
eosinophilic material lining the alveolar walls (TOPNOTCH)Robbins Basic Pathology, 8th Ed pp 257-258
A premature male neonate who was delivered at 33 weeks AOG and admitted at the PICU develops abdominal distention, bloody stools, and hypotension. An abdominal radiograph shows gas within the intestinal wall. What is the expected histologic findings of the involved intestine? (A) coagulative necrosis of the mucosa and muscularis (B) arteriovenous fistulas in the submucosa (C) melanosis of the mucosa (D) crypt abscesses and noncaseating granulomas
coagulative necrosis of the mucosa and muscularis (TOPNOTCH)Robbins Basic Pathology, 8th Ed p 259