CLINICAL PRESENTATIONS OF SOME PEDIATRIC DISORDERS

BY

DR MUNAZZA SALEEM

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

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

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

Steven-Johnson Syndrome

Severe life threatening hypersensitivity reaction

Etiology drugs, infections

Clinical course

Diagnosis

Management

prognosis

Henoch – Schonlein Purpura

Most common vasculitis of childhood

Diagnostic cutaneous manifestation

Systemic involvement renal, GIT, CNS, pulmonary, joints

Management

prognosis

Congenital Adrenal Hyperplasia

Hereditary disorder Genetic defect resulting in enzyme

deficiency Clinical manifestations salt loosing

variety, virilization

Myesthenia Gravis

Autoimmune disorder antiacetylcholinestrase receptor antibodies Diagnosis tensilon test, EMG Treatment acetylcholine estrase inhibitors, thymectomy, immunosupression

Cleft Hand

Autosomal dominant,new mutation Etiology unknown Associated anomalies cleft lip and palate, cardiac, ophthalmic, anal management

Rectal Prolapse

Associated with malnutrition, chronic diarrhoea, cystic fibrosis

May be ideopathic

Thyroglossal cyst

Developmental defect Benign Symptoms associated Diagnosis Management

Omphalocele

Developmental defect 1:6000 births

Anatomical features Associated defects cardiac,

neurogenic, genitourinary, skeletal Management

Thanks