1. CLINICAL PRESENTATIONS OF
SOME PEDIATRIC DISORDERS
BY
DR MUNAZZA SALEEM

3. Coeliac Disease
 Prevalence: 1:2000 population
 Pathology: Gluten sensitive
enteropathy
 Atypical features: stature, delayed
puberty
 antibody, tissue transglutaminase
 Diagnosis: small bowel biopsy
 Treatment: Avoidance of wheat, rye,
barley, oats

5. Acrodermatitis Enteropathica
 Etiology Genetic,
acquired( malnutrition, chronic
diarrhoea, prematurely)
 Pathology defect in Zinc absorption
or transport
 Characteristic Presentation acute
vesicobullous,aczematous,
psoriasiform eruptions around the
hands, feet, eyes, mouth and genitals
of infant
 Treatment Supplemental oral zinc
sulphate

7. Fanconi’s Anemia
 Constitutional aplastic anemia
 Genetic defects in proteins
involved in DNA repair
 Clinical findings
 Development of malignancies
 Diagnosis increased
chromosomal breakage when
exposed to DNA damaging
agents
 Androgen/ steroid therapy
 Bone marrow transplantation

9. Steven-Johnson Syndrome
 Severe life threatening
hypersensitivity reaction
 Etiology drugs, infections
 Clinical course
 Diagnosis
 Management
 prognosis

11. Henoch – Schonlein Purpura
Most common vasculitis of childhood
Diagnostic cutaneous manifestation
Systemic involvement renal, GIT, CNS, pulmonary, joints
Management
prognosis

12. Congenital Adrenal Hyperplasia
 Hereditary disorder
 Genetic defect resulting in enzyme
deficiency
 Clinical manifestations salt loosing
variety, virilization

14. Myesthenia Gravis
 Autoimmune disorder antiacetylcholinestrase receptor antibodies
 Diagnosis tensilon test, EMG
 Treatment acetylcholine estrase inhibitors, thymectomy, immunosupression

16. Cleft Hand
 Autosomal dominant,new mutation
 Etiology unknown
 Associated anomalies cleft lip and palate, cardiac, ophthalmic, anal
 management

17. Rectal Prolapse
 Associated with malnutrition,
chronic diarrhoea, cystic fibrosis
 May be ideopathic

19. Thyroglossal cyst
 Developmental defect
 Benign
 Symptoms associated
 Diagnosis
 Management

20. Omphalocele
 Developmental defect 1:6000
births
 Anatomical features
 Associated defects cardiac,
neurogenic, genitourinary, skeletal
 Management

21. Thanks