This document summarizes several pediatric disorders including Coeliac Disease, Acrodermatitis Enteropathica, Fanconi's Anemia, Steven-Johnson Syndrome, Henoch–Schönlein purpura, Congenital Adrenal Hyperplasia, Myasthenia Gravis, Cleft Hand, Rectal Prolapse, Thyroglossal cyst, and Omphalocele. For each disorder, it provides information on prevalence, etiology, pathophysiology, clinical presentation, diagnosis, management, and sometimes prognosis. The document is intended as an educational overview of these conditions for medical professionals.

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