Q.
Short Stature with Recurrent Pallor and Constipation

13 years old Muslim male child born of non consanguineous marriage was brought with chief complaints of progressively increasing jaundice for 15 days, gradually increasing pallor for 10 – 15 days, constipation and abdominal distention for 2 days. There was no history of fever, nausea or vomiting. There was no history of any tuberculosis contact. Child was operated for anal atresia {Sigmoid Colostomy} was done on 4 th day of life. Definitive surgery done at 1 ½ years. Child has had 3-4 episodes of constipation earlier, requiring enema each time starting from 3 years of age and last such episode occurring at the age of 9 years. He has had two episode of pallor at the age of 6 and 11 years requiring blood transfusion each time. Some blood investigation was done then, details of which is not available.
On examination his weight was15 kgs and height was 114 cm. US, LS ratio was 1.1, 1. Mid parental height was 161 cm. Hemodynamics was stable. Pallor and icterus present. No evidence of Vitamin deficiency. No lymhadenopathy, pedal oedema or discolouration of gums. On systemic examination his abdomen was distended. Fecolith were palpable in hypogastrium. Percussion note was tympanic in all areas apart from hypogastrium. There was no organomegaly or free fluid. RS and CVS was clear.
Hb – 6.6 gm percent, microcyitc hypochromic anemia, no basophilic stippling, RDW – 44. TLC – 14,000, cmm, platelets – 10 lacs. Bili – 8 mg percent, direct – 5.3 mg percent, ALT – 302, AST – 163, Alk. PO4 – 653, Tot. Protein – 5.3, Alb – 3.8. RFT – Normal, Urine – Normal, Calcium and Phosphorus – normal, Viral Serology for Hep A and Hep E – Negative, Bone age – 11 – 13 years, no evidence of bone sclerosis suggestive of lead poisoning, Thyroid function – Normal. X – ray abdomen – Fecolith in the lower abdomen, Serum iron chemistry – not done.
Enema given – Constipation relieved.
What are the differentials_?
How should I investigate him further_?