2. CASE HISTORY AND EXAMINATION
2.1 History and examination:-
a 2 years old, previously healthy, fully immunized, developmentally normal male child presented with a history of decreased appetite for 1 month and a history of irritability and increased paleness for the last 10 days. No history of fever, cough, altered bowel habit, pain abdomen, abdominal distension, pica symptoms, yellowish discoloration of body, bleeding from any site, bone pain, oral ulcer, skin rashes, multiple swellings in the body, repeated blood transfusion, TB contact. He had a family history of the death of 1st cousin, due to metabolic syndrome at the age of 11. On examination, he was active and alert, with stable vitals ( Temperature- 98 F, RR- 24 breaths/mins, HR- 104 bpm, BP- 90/60 in right arm(50th centile for age and sex), CRT of < 2 sec). He was pale but there was no icterus, lymphadenopathy, edema, cyanosis, dehydration or clubbing. Anthropometric parameters are shown in table-1. On systemic examination, there was hepatomegaly ,with liver span of 8cm and palpable spleen 2 cm below costal margin. Rest of the physical examination was unremarkable.
2.2 Investigation:-
Blood investigation showed the TLC 12,700 N46 L50, Hb/Hct: 8.4/25%, MCV/MCH/MCHC: 65/25/32, Platelet: 2,14,000. Liver function test was also normal( TSB:0.5, DB:0.2, AST:48, ALT:14, ALP:121). Iron Profile study showed, Iron:71(30-100), TIBC:281(250-425), Ferritin:73(7-142), Transferrin saturation:25.26(17-34). Ultrasound of abdomen and pelvic showed splenomegaly of 9.6 cm. Peripheral blood smear showed RBC anisopoikilocytosis morphology , predominantly microcytic hypochromic with ew tear drop cells and pencil cells, WBC and platelet morphology was normal. Vit B12 was also normal(450 pg/ml), serology and mantoux was non reactive. Ophthalmic evaluation did not show evidence of cherry red spots. We initially treated the case as anemia under evaluation with hemoglobinopathies and metabolic syndrome to be ruled out. The patient was discharged with iron and followed up in 1 week.
2.3 Follow-up
On follow up, his appetite had improved and his irritability had decreased. The haemoglobin electrophoresis showed a normal report. Then we planned to go for a genetic test to rule out the inborn error of metabolism but the patient party initially refused due to financial issues.
2.4 Re- admission (History and examination)
The child was again admitted after one month to the hospital for the complaint of insidious onset non progressive slowness of gaze when head moves in horizontal direction, as noticed by mother. It was not associated with abnormal body movement, uprolling of eyes, frothing from mouth, or urinary or stool incontinence. And other history was also not significant. On examination, we noticed the slowing of the right eye when the head was moved horizontally(saccadic eye movement). No focal neurological deficits, no features of raised ICP. Rest of the physical examination was unremarkable except the persistence of hepatosplenomegaly that was not changed from the last time. Ophthalmologic examination did not show evidence of cherry red spots and ophthalmoplegia.