History is taken from mother who is educated up to A/L
Abnormal walking pattern after start walking.
Protrusion of the chest at the age of the 6 month.
Lump over the head since birth.
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.
No relevant finding in past medical 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.
Complete up to age.
4yrs 1yrs 11months
Non consanguinity marriage.
No family history suggestive of bone disease leg deformity, difficulties
with walking or unexplained short stature.
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
She is use 2 to 3 words to make simple phase. She can pull off
some clothes. She isn’t well toilet trained.
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.
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.
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
She has not alopecia
She has frontal bossing
Anterior frotanelle is fused
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
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
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
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
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
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.
Baby has features suggestive of rickets
Baby has chronic malnutrition
Mother has to stay at hospital with this child. Therefore other
is with grand mother
1. Renal rickets
2. Nutritional rickets
3. Fanconi syndrome
Radiograph –upper limb, Lower limb, Chest
Show frying, & cupping
Rachitic change in growth plate
ABG - (Done after vomiting)
pH -7.468 -High
Pco2 -28.7mmHg -Low
Po2 - 89.9mmHg
Results are compatible with metabolic alkalosis. That may due to
Urine ward test
Benedict test –Green
Urine protein –Nil
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.
Expansion of metaphyses
Failure to thrive
Delayed closure of anterior frontanelle
Bowing of weight bearing bone
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
Diet low calcium, phosphorus, vitamin D
Decreased exposure to sunlight
Prolong parental nutrition
Defective production of 1, 25 dihydroxycholecalciferol
Hereditary type 1 vitamin D resistant rickets
Familial hypophosphataemic rickets
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
Baby was discharge on one alpha cholecalciferol 0.25 mg/daily
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.