History is taken from mother who is educated up to A/L P/C Abnormal walking pattern after start walking. Protrusion of the chest at the age of the 6 month. Lump over the head since birth. H/P/C Apparently healthy baby girl who started to walk at the age of 1 year & 8 months of age presented to the ward due to abnormal walking pattern since this age.That was noticed by mother.Initialy mother thought that will improve with time. Apart from this mother had noticed that baby has bony lump over the head since birth & protruding chest at the age of 6 months.But she wasn’t get medical advice for that. Due to above problems mother carry the baby to consultant paeditriation.Here there was taken chest &limb radiograph.Then he adviced to mother baby has problem with calcium deposition in bone.So he asked to admit the baby to ward for further investigation. Baby hasn’t polyurea , polydypsia or passing of red colour urine.Usually she micturate 6-8 times per day.She isn’t complain of about abdominal pain.There is no history suggestive of anemia. Baby hasn’t recurrent nausea,vomiting or diarrhoea.She had good appetite.But recently it is reduce. No history of prolong use of anticonvulsant or antacid. No history of seizure attack .Baby hasn’t recurrent chest infection .She is not complain of muscle weakness .Baby was expose enough sun light. No history of fracture. P/M/H No relevant finding in past medical history. BIRTH HISTORY That was a planned pregnancy. Mother used oral contraceptive pills for 6 month duration before this pregnancy .She wasn’t taken preconceptional folic acid. She had vaccinated against rubella. After first trimester she got Ca+, Fe+, &vitamin supplement. Anti natal period was uneventful. During pregnancy she hasn’t nutritional problem or infection. She had enough exposure to sunlight. Baby was delivered by caesarean section due to past section & vaginal varices at 38 weeks of gestation. Birth weight is 2.95Kg.After birth no PBU admission. At the age of 3 days baby had develop neonatal jaundice which was manage conservatively. IMMUNIZATION HISTORY Complete up to age. FAMILY HISTORY 28yrs 31yrs 4yrs 1yrs 11months Non consanguinity marriage. No family history suggestive of bone disease leg deformity, difficulties with walking or unexplained short stature. DEVELOPMENTAL HISTORY Baby raised her head at the age of 3 months &sit without support at the age of 7 months. She started to walk with support at the age of 1 year & 5 months of age. After 1 year & 8months of age she could walk alone. Now she can walk alone but can’t climb the stair. Her teeth eruption started at the age of 3 months. Now it is complete. She is use 2 to 3 words to make simple phase. She can pull off some clothes. She isn’t well toilet trained. DIETARY HISORY Baby was exclusively breast at the age of 6 months. Then there was started weaning food with kanji. Then gradually introduce the other food including cereal, vegetable & fruits. At the age of 10 to 12 months baby got normal adult diet. Most of the time her diet contain fibers. According to mother at this age baby ate enough. Baby likes to eat diary food. Now her diet contains rice, fish, eggs, milk (formula & breast milk) &fruits. Now her daily nutrition supplement is 1195Kcal (24 hour survey) But requirement is 1560 Kcal. SOCIAL HISTORY Baby is lived with her mother & elder sister in their own home which is fully build. They get water from their well which is protected. They use water seal toilet. Their home is situated 10 miles away from the Ambalangoda town Baby is very active at the home. They go to Balapitiya base hospital when they have emergency. That takes 45 min to reach there by three wheal. Her mother is housewife educated up to A/L. Father works at Korea at Rubber Company. He educated up to A/L. He will stay there for 3 years. Now only 10 months. He sent enough money to family. Her grand mother helps to them who is 59 years of age. She lives near the baby’s home with her daughter. All ways they look after two babies. Elder baby goes to nursery. Due to hospital stay of mother this baby lives with her grand mother. EXAMINATION GENARAL Active baby with fair skin Height -75Cm Below the third centile Weight-8.8Kg Below the third centile Height/age - 84.28 Weight/height - 89.79 OFC - 46Cm On second centile Afebrile She has not alopecia She has frontal bossing Anterior frotanelle is fused Not pale. No cervical lymphadenopathy She has Harrison sulcus & rachitic rosary Abdomen is protruded Wrist is widening No bowing of legs or valgas or varus deformities No spinal deformities like kyphosis or scoliosis She has waddling gait CARDIOVASCULAR SYSTEM EXAMINATION Pulse Rate 92 beats per minute with regular rhythm &normal volume Blood pressure is 90/70 Hgmm No visible pulsation over precodium No parasternal heaving or thrill Apex is at mid clavicular line in 5th inter costal space First & second heart sounds heard all four cardiac area No murmur RESPIRATORY SYSTEM EXAMINATION Respiratory Rate 18 cycles per minute Chest expansion equal in both sides Resonant to percussion Vesicular breathing in all zones of the lung No added sounds ABDOMINAL EXAMINATION Anterior abdominal wall move with respiration Abdomen is distended No surgical scars Abdomen is distended No free fluid Abdomen is soft & non tender No hepato spleenomegaly No ballotable lump NERVOUS SYSTEM Baby is conscious & rational No visual impairment. No cataract No evidence of cranial nerve abnormalities No muscle wasting Muscle tone is normal Reflexes are normal SUMMARY 1year &11 months old apparently healthy active baby girl presented to the ward after prominent skull lump since birth, protruded chest after 6 months of age, &waddling gait after start walking. She had achieved her development milestone age appropriately except walking, which achieved at the age of 1 year &8 months of age. There is no history suggestive of chronic liver disease or chronic renal disease. In dietary assessment there is 200Kcal deficiency per day. On examination baby has frontal bossing, Harrison sulcus, Rachatic rosary, widening of wrist & protruded abdomen. On nutritional assessment there is reveal chronic malnutrition. PROBLEM LIST Medical Baby has features suggestive of rickets Baby has chronic malnutrition Social Problem Mother has to stay at hospital with this child. Therefore other baby is with grand mother DIFFERENTIAL DIAGNOSIS 1. Renal rickets 2. Nutritional rickets 3. Fanconi syndrome INVESTIGATION Radiograph –upper limb, Lower limb, Chest Show frying, & cupping Rachitic change in growth plate Serum calcium 10mg/dl -Normal Serum electrolyte Sodium-138meq/l -Normal Potasium-4.6meq/l -Normal Blood urea 37mg/l -Normal Serum ALP 443IU -Normal Serum phosphate 2.8mg/dl -Low ABG - (Done after vomiting) pH -7.468 -High Pco2 -28.7mmHg -Low Po2 - 89.9mmHg SaO2-97.6% Results are compatible with metabolic alkalosis. That may due to vomiting Urine ward test Benedict test –Green Urine protein –Nil DISCUSSION Rickets is the disease condition where failure in mineralization of bone or osteoid tissue. When mineralization impaired epiphyseal growth area become disorganized & hypertrophic. Here following clinical features can be seen. Frontal bossing Rickety rosary Harrison’s sulcus Expansion of metaphyses Failure to thrive Craniotabes Delayed closure of anterior frontanelle Delayed dentition Bowing of weight bearing bone Hypotonia This child has above four clinical features with radiological finding like cupping of the metaphyses of wrist joint & poor mineralization of bone. So this child is clinically diagnosed as rickets. There are many causes for rickets. Those are as follows Nutritional rickets Diet low calcium, phosphorus, vitamin D Decreased exposure to sunlight Prolong parental nutrition Intestinal malabsorption Defective production of 1, 25 dihydroxycholecalciferol Hereditary type 1 vitamin D resistant rickets Familial hypophosphataemic rickets Fanconi syndrome Target organ resistant to 1, 25 dihydroxy cholecalciferol Hereditary vitamin D dependant rickets type 2 When consider this child, she has a history of low calorie intake .Waterlow classification reveal she has chronic malnutrition. In addition baby is still breast fed. Breast milk is poor source for these mineral. Therefore there is high chance to develop Calcium deficiency & phosphorus deficiency which leads rickets. This baby has enough exposure to sun light, which is a main source for vitamin D. Therefore this may be due to a defect in the formation of active vitamin D, which is help to increase the calcium level in the body. Formation of active Vit D takes place at liver & kidney. If these organ has defective function it leads to reduce active Vit D & leads rickets. In this child urine ward test reveal Benedict test positive. That means reducing substances like glucose excrete via urine. That is seen in Fanconi syndrome. In this condition serum calcium level is normal with reduce phosphate level. That also sees with child’s report. Therefore urine sample was sent for the urinary amino acid chromatography to conform metabolic condition. Baby was discharge on one alpha cholecalciferol 0.25 mg/daily dose. Apart from the above condition baby has protein energy malnutrition grade 2. Her height & weight are below the third centile. Weight deficit is 27.6%.Therefore I did 24 hour dietary survey. It reveal 370Kcal deficit. So I advised to mother stop breast feeding .I hand over the leaflet to mother about balance diet according to dietician opinion. At the discharge there was planed revive the baby at clinic with USS abdomen & urinary amino acid chromatography reports.
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