Genetics & Developmental Pathology Situational Analysis

University of Santo Tomas Faculty of Medicine and Surgery Department of Pathology

Genetics & Developmental Pathology

Dr. Normando C. Gonzaga Dr. Lorna B. Lioanag

A 32 year old primigravida delivered at 36 weeks AOG. The newborn died after a few days. This is the microscopic picture of the lungs at autopsy.

Discuss the following:  Salient

features  Diagnosis and basis for diagnosis.  Differential diagnosis  Pathophysiology  Treatment  Prognosis

Four days after delivery, the premature newborn develop bloody stools accompanied by abdominal distention. Abdominal radiograph shows gas within intestinal wall. Below are microscopic features of the intestine.

Discuss the following:  Salient

features  Diagnosis  Differential diagnosis  Pathophysiology  Treatment  Prognosis

A one year-old boy developed fever one month PTA. One week PTA, he was noted to be irritable. He developed vomiting and stiffness of the neck. On admission lumbar tap was done. CSF exam shows 50,000 neutrophils/mm3, decreased glucose, and increased protein. Patient died a week after admission. Below are the gross pictures of the brain during autopsy.

Discuss the following:

       

Salient features Diagnosis Etiologic agents Differential diagnosis Pathophysiology Differentiating features from TB meningitis Treatment Prognosis

A seven year-old girl was noticed to have anorexia for the last 6 months. She is also having low grade afternoon fever. On physical examination, prominent matted lymph nodes are appreciated in the supraclavicular and post-auricular areas. Below are the gross and microscopic features.

:Discuss the following:  Salient

features  Diagnosis  Pathophysiology  Differential diagnosis; differences from secondary tuberculosis  Treatment  Prognosis

A ten-year old boy was diagnosed to be malnourished. Below are the gross and microscopic features of the liver.

Discuss the following:  Diagnosis  Bases

for diagnosis  Differentiate marasmus from kwashiorkor  Discuss the various pathologic changes in malnutrition  Treatment, Prevention, Impact to society

A 5-year old boy was brought to a pediatrician because of abdominal mass. He was subsequently operated on. Below are the gross and microscopic features of the tumor

Discuss the following:  Diagnosis  Clinical

bases for diagnosis  Pathogenesis and genetics  Gross and microscopic features  Treatment and prognosis

Below are gross pictures of kernicterus.

Discuss the following:  Definition  Clinical

manifestations  Etiology and Pathophysiology  Relationship to physiologic jaundice of the newborn  Treatment and prognosis

Below is the gross picture of a stillborn.

Discuss the following:  Diagnosis  Differentiate

the forms of congenital

anomalies  Genetics and pathophysiology of this condition  Risk factors from the parents

Examination of a stillborn fetus or neonate should consist of a careful and detailed physical examination. You must note the presence of any anomalies, as well as detail size and gestational age.

 Give

the diagnosis.  Congenital anomalies are classified into the following: – Malformation – Disruption – Deformation – Sequence – Syndrome Which type of congenital anomaly is this condition?  What other congenital abnormalities are usually associated with this condition?  What are the possible causative factors?  What should be included in counseling the parents of this patient?

In this case, the diaphragmatic dome is missing on the left, allowing herniation of the abdominal contents into the chest cavity. The metal probe in the photograph is behind the left lung, which has been displaced by the stomach. Below the stomach is a dark spleen (at the white arrow). The white arrow overlies the left lobe of liver which is extending upward.

 What

other congenital abnormalities are usually associated with this condition?  What are the possible causative factors?  What should be included in counseling the parents of this patient?

Agenesis refers to the absence of formation of a body part in embryogenesis. Here the kidneys are absent from the retroperitoneum, and this renal agenesis will result in oligohydramnios, because amniotic fluid is mainly derived from fetal urine.

 Define

agenesis.  Differentiate between agenesis and hypoplasia.  What is the pathogenesis of this condition?  State the relationship of this condition to oligohydramnios.  What are the possible causative factors in agenesis?

The most serious consequence of oligohydramnios is pulmonary hypoplasia. Note the extremely small lungs in this case on each side of the heart in the middle of the chest.

 What

is the expected clinical manifestation of this condition?  Is this condition compatible to life? Give the reason for your answer.

This is a case of omphalocoele. It is a ventral abdominal wall defect that requires surgical repair. It involves the region of the umbilical cord. A thin membrane covers the herniated abdominal contents. The bowels has mainly developed outside the abdominal cavity. It is malrotated and the cavity is too small.

 State

the pathogenesis of this condition.  What are the chances that this will recur in succeeding pregnancies?

End