Page 279 - Textbook of Pathology, 6th Edition

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CHAPTER 10

Figure 10.5 Diagrammatic view of comparative features of typical
Gaucher cell (A). B, typical macrophage in Niemann-Pick disease. C, A
Gaucher cell (arrow) in bone marrow aspirate smear.

and vacuolated which stains positively with fat stains 1. Neonatal period is the period of continuation of Genetic and Paediatric Diseases
(Fig. 10.5, B). These cells are widely distributed in the dependent intrauterine foetal life to independent postnatal
spleen, liver, lymph nodes, bone marrow, lungs, bowel period. Therefore, this is the period of maximum risk to life
and brain. due to perinatal causes (e.g. prematurity, low birth weight,
perinatal infections, respiratory distress syndrome, birth
asphyxia, birth trauma etc) and congenital anomalies. If
MULTIFACTORIAL INHERITANCE
adequate postnatal medical care is not provided, neonatal
Some normal phenotypic characteristics have also mortality is high. Neonatal mortality in first week after birth
multifactorial inheritance e.g. colour of hair, eye, skin, height is about 10-times higher compared to second week, and
and intelligence. Multifactorial disorders are those disorders shows improvement with every passing week at this stage.
which result from the combined effect of genetic composition 2. In infancy, the major health problems are related to
and environmental influences. Some common examples of congenital anomalies, infections of lungs and bowel, and
such disorders in which environmental influences mask the sudden infant death syndrome (often during sleep).
mutant genes are as under: 3. Young children from 1-4 years are exposed to higher risk
1. Cleft lip and cleft palate of sustaining injuries, and manifest certain congenital
2. Pyloric stenosis anomalies. Some malignant tumours are peculiar to this age
3. Diabetes mellitus group.
4. Hypertension 4. Older children from 5-14 years too have higher risk of
5. Congenital heart disease injuries from accidents and have other problems related to
6. Coronary heart disease. congenital anomalies and certain malignant tumours at this
age.
OTHER PAEDIATRIC DISEASES Thus, hazardous effects of congenital anomalies are a
common denominator for all age groups from birth to
As mentioned in the foregoing discussion, many diseases adolescence. Specific tumours peculiar to infants and
affecting infancy and childhood are genetic or developmental children are discussed along with discussion in related
in origin. Here, other diseases affecting the period from birth chapters of Systemic Pathology. However, a short note on
to puberty are discussed under the heading of paediatric general aspects of this subject is given below.
diseases. This period is conventionally subdivided into 4
stages: TUMOURS OF INFANCY AND CHILDHOOD
Neonatal period: birth to first 4 weeks
Infancy: first year of life Tumours of infancy and childhood comprise 2% of all
malignant tumours but they are the leading cause of death
Early childhood: 1-4 years in this age group exceeded only by accidents. Benign tumours
Late childhood: 5-14 years are more common than malignant neoplasms but they are
Each of these four stages has distinct anatomic, generally of little immediate consequence. Another aspect
physiologic and immunologic development compared to requiring consideration here is the difficulty in differentiating
adults and, therefore, has different groups of diseases unique benign tumours from tumour-like lesions.
to particular age groups. Before discussing these diseases
affecting different age groups, a few general comments about HISTOGENESIS. Histogenetic evolution of tumours at
these stages can be made: different age groups takes place as under: