Combined Clinical case discussion
Name: Manjunath Age: 2 yrs 10 mo Sex: Male Addr: Channandur Gouribidanoor (Tq) Kolar (Dt) D. O. A: 4 -10 -04 Informant: Grand mother(Reliable)
Presenting complaints l Not able to stand even with support since birth l Deformity of left upper limb & pain on touching it------Since 3 months l Keeping the head turned to left side—Since 21/2 mon
History of presenting complaints l Grand mother noticed that child is not able to stand even with support at this age. when child was made to stand with support he used to lift his legs off the ground without supporting his body wt on legs. But he attained neck controle at 4 th month, sitting with support at 6 th mo, sitting without support at around 9 mo. Feed hiself successfully at 18 mo, holds pen & scribble at 11/2 yr
History of presenting complaints l Social smile around 21/2 mo, waving bye-bye at 1 yr & now plays with other siblings normally l Using l Now bisyllables around 1 yr(Ajji, jiyya) child goes from one part of room to other by shuffling
l Grand mother thought that child will start walking only after 3 yrs of age i. e. after his mother’s delivery & after offering his hair to the God Manjunatha at 3 yrs of age. l For above reasons child was not shown to any doctor. l 3 mo back gr mother noticed the deformity over child’s Lt forearm i. e. curved fore arm bones & child used to cry on touching the limb.
l She doesn’t remember any antecedent h/o truama or fall l Movements at wrist or elbow were not restricted & there was no abnormal movement at the site of deformity. l She also complained that child always used to keep his head turned to left side & could not turn to rt side completely.
l Used to cry excessively when gr mother tried to move the neck to Rt side No h/o trauma to the neck But gr mother tells that child is not puttingon wt & in fact child has lost wt. Grand mother also c/o polyuria & polydypsia No h/s/o recurrent cough & chest retraction No h/o deformities in other limbs, no h/o drug intake no h/o ear dicharge or vision defect
l For similar complaints child was taken to some nati vaidya for puttur bone cast physician in gouribidanoor govt hosp pediatricin adv to go to VVCH HISTORY: At the age of 1 yr had fever lasting 3 -4 days/mo for 2 -3 months associated with nasal discharge Rx on opd basis in Koratagere. l PAST Child also had loose stools lasting for abt 15 days
5 -6 episodes/day, small qty, watery in cons, foul smelling & was Rx on opd basis with inj & syr but no I. v. fluids. After child was branded on back in lumbar region, it subsided. Child had convlsions at the age of 11/2 yr, 3 -4 episodes, each lasting for abt 2 -3 min. it was in the form of tonic posturing of limbs. No h/o postictal drowsiness or bowel/bladder incontinence & it subsided after branding & no Rx was given
l Family history: ML--5 yrs 28 no similar compl in family 18 No deaths or abortion 2 yrs 10 mo 6 months
Birth history l Ante natal—B&I at GH 2 TT inj taken. >100 IFA taken All trimisters were unevntfull NATAL: Full term delivery by LSCS in Gouribidanoor Pvt N. H. ? indi CPD. duration of labor was around 24 hrs. BCIAB birth wt— 2. 75 kg no NICU admission. breast fed immediately
l POST NATAL: Un eventful(no jaundice) FEEDING HISTORY: Braest fed immediately after birth No pre lacteal feeds, was breast fed for 1 yr Weaned at 5 th with ragi seri , ghee & cow’s milk After 9 mo started giving rice in the afternoon & ragi seri at night
Present diet l TIME Calories Proteins 6 am. 1 cup milk with water 1: 1 dil C sugar+2 pcs bread 10 am ¼ ragi ball +1/2 cup rice C sambar & 1 tsp ghee 12 NOON 2 biscuits 60 20+140 30+80 40 40 3 4 2+1 --1
2 PM ½ cup rice c sambar 4 PM Milk 60 ml(1: 1)dil c 2 biscuits & sugar 8 PM ¼ ragi ball+1/2 cup rice c sambar l 80+10 60+40+20 2. 5 3+1 120 3 740 kcal 20 gms
calories proteins required 1200 20 Getting 740 20 Deficit 460 kcal 39% def Adequate
Immunisation history Upto date Developmental history Neck controle--4 thmonth Rolling over— 6 th month Sitting without support— 81/2 months Creeping – 1 yr Standing with support ---not yet attained
Fine motor l Attained pincer grasp---10 months Can feed himself without spillage Plays with toys normally LANGUAGE Uses only bisyllables like ajji thatha & jiyya can not make sentences. Social: normal , plays with siblings , recognises relatives.
Socio economic history Father— 5 th std, coolie works in fields, Rs 30/day Mother— 8 th std, H. W. 5 membered family, father is only earning member. own house, pakka house with mud floor, 2 windows, 1 door &no sep rooms, open air defecation lower SES l
Summary 2 yrs 10 months old child came with h/o not able to stand even with support. Deformity of Lt UL C tender to touch— 3 mo Keeping head turned to Lt— 21/2 mo C no h/o trauma/fall H/o polydypsia & poly uria C past h/o febrile convlsion & loose stools & no significant ? family history C gross & language developmental delay
Provisional diagnosis 1 Resistant rickets —Adequate diet -- Adequate sun exposure --Failure to thrive -- Fracture 2 Renal tubular acidosis –Rickets feature -- Polyuria & polydypsia - Failure to thrive
GPE l 2 yrs 10 mos old child is sittting in gr mother’s lap comfortably, conscious but irritable for examination. Anthropometry Wt----7 kgs 3 rd perc 11. 4, 50 th per 14. 3. <50% Length— 70 cm <3 rd percentile(88 cm) stunted H. C. ------46 cm expected 47— 50 cms C. C. ------43 cm not over taken the head circmf MAC-----12 cm severe mal nutrition
Comments l Child is both stunted & wasted l Wt age= 6 months l Ht age = 6 months l WT/HT= normal l HC =1 yr l UL/LL= 1. 2 proportionate dwarf
Vitals l Afebrile l RR-28/min l Pulse rate-98/min l BP-92/60 l Hydration -adequate
Head to toe examination l Head –parietal prominance+ AF-open 3 x 3 cm, PF-closed, no pingpong ball feel Eyes: appear prominantn, no blue sclera, no pallor Nose: upturned nares with broad base Ears: normal Oral cavity: hygenic
l Dentition; 112 211 no caries& other anomalies 112 211 Neck; : no restricted novements, no LN pathy no mass in sternocleido mastoid muscle Chest: costo chondral beading+ rounded, no harrison sulcus Abdomen: protruberant Spine: no kypho scoliosis Bones & joints: Deformity of Lt fore arm+
l Left fore arm: deformity+, curved forearm bones, tender to touch. no crepitous or psuedo arthrosis
l Wrists—widening + l Ankle—double malleoli
Systemic examination l CVS– normal s 1 s 2 heard no murmur l RS: b/l equal chest movement NVBS+, occ crept+ l P/A: soft, protrberant liver palpable 1. 5 cm RCM, BS+
Provisional Dx l Resistant Rickets with GR IV PEM l Osteogenesis imperfecta type IV l RTA
l URINE: PH-5. 5 , Sp. Gravity 1. 010 aminoacidurias—Neg 24 hrs urinary ca++ 240 mg/dl high N 24 hrs urinary posp— 120 mg/dl Normal • Blood urea— 30 mg% • Serum creatinine— 0. 1 mg% • ABG: PH: 7. 36 PCO 2: 38 PO 2: 44 Na: 137, HCO 3: 21. 8 BE: 3. O 2 sat: 79. 7
X-ray UL-multiple # on both ulnas with gen osteoporosis 2 carpal bones are+ X-ray femora—generalised osteoporosis+, No # X-ray skull– no wormian bones, C-spine normal l X-ray LL: Generalised osteoporosis+ C green stick # of Lt tibia at middle of shaft. l U/S abdomen: Rt kidney is not visualized ? Agenesis? ectopic
l Diagnosis
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