COSTOCHONDRITIS ?TREACHER COLLINS SYNDROME ? DOWNS SYNDROME LARGE ASD

 A 19 YR OLD FEMALE CAME WITH C/O RIGHT SIDED CHEST PAIN SINCE EVENING

HOPI-

PT WAS APPARENTLY ASYMPTOMATIC 1 DAY BACK LATER SHE DEVELOPED CHEST PAIN RIGHT SIDED, INSIDIOUS IN ONSET, TENDERNESS+, PAIN IS NON RADIATING, SHARP TYPE OF PAIN.

NO H/O HEAVY WEIGHT LIFTING AND WORKING

NO H/O TRAUMA, PALPITATIONS, SWEATING, SOB

NO H/O FEVER, COLD, COUGH, NAUSEA, VOMITINGS

NO H/O BURNING MICTURITION, CONSTIPATION, PEDAL EDEMA, DECREASED URINE OUTPUT, ABDOMINAL PAIN.

PAST HISTORY-

NOT A K/C/O HTN, DM, CVA, CAD, TB, ASTHMA

NO H/O SIMILAR COMPLAINTS IN THE PAST

H/O DELAYED MILESTONES +

COURSE IN HOSPITAL:

PT WAS ADMITTED I/V/O CHEST PAIN ON FURTHER EVALUATION,GENERAL EXAMINATION,SHE HAS ANTIMONGOLOID PALPEBRAL FISSURE,MICROTIA,MICROGNATHIA,LOW SET EARS,ADONTOTIA?PARTIAL CLEFT LIP,HIGH ARCHED PALATE,SANDAL GAP,NAIL DYSTROPHY IN ALL FINGERS AND TOES.

SHE HAS DELAYED MILESTONES IN INFANCY

2D ECHO SHOWED LARGE ASD

BASED ON ABOVE FINDINGS SHE IS SUSPECTED TO HAVE ? TREACHER COLLINS  SYNDROME,? DOWNS SYNDROME.GENETIC COUNSELLING WAS DONE.

GEENRAL EXAMINATION-

PT IS C/C/C

NO PALLOR, ICTERUS, CYANOSIS, CLUBBING, LYMPHADENOPATHY, EDEMA

HEAD TO TOE EXAMINATION-

BUILT AND NOURISHMENT POOR

MICROTIA

LOW SET EARS

ANTI MONGOLOID PALPEBRAL FISSURE

MICROGNATHIA

?PARTIAL CLEFT LIP

ANODONTIA

HIGH ARCHED PALATE

VITALS-

AFRBILE

BP- 90/60MMHG

PR- 94BPM

RR-18 CPM

SP02- 98 AT RA

GRBS- 115 MG/DL

SYSTEMIC EXAMINATION

CVS- S1 S2+, S2 WIDE FIXED, PARASTERNAL HEAVE+, EJECTION SYSTOLIC MURMUR+

CNS- NFND

RS- BAE+

PA- SOFT, NT



BLOOD UREA 06-03-2024 12:15:AM 24 mg/dl 42-12 mg/dl

SERUM CREATININE 06-03-2024 12:15:AM 0.8 mg/dl 1.1-0.6 mg/dl

SERUM ELECTROLYTES (Na, K, C l) 06-03-2024 12:15:AM

SODIUM 139 mEq/L 145-136 mEq/L

POTASSIUM 3.8 mEq/L 5.1-3.5 mEq/L

CHLORIDE 99 mEq/L 98-107 mEq/L

HBsAg-RAPID 06-03-2024 12:15:AM Negative

Anti HCV Antibodies - RAPID 06-03-2024 12:15:AM Non Reactive

HEMOGRAM 

HB- 11.3

TLC- 15000

PCV-33.4

RBC-3.54

PLT-2.24

TROP I- 3.4 PG/ML


INJ TRAMADOL 1 AMP IN 100ML NS IV/STAT

INJ PAN 40MG IV/STAT

T.ULTRACET PO/BD

T.PAN 40MG PO/OD

T.NEUROBION FORTE PO/OD

T.ZOFER 4 MG PO/SOS

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